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111 Study Matches

Testing the Addition of the Chemotherapy Drug Lomustine (Gleostine®) to the Usual Treatment (Temozolomide and Radiation Therapy) for Newly Diagnosed MGMT Methylated Glioblastoma

This phase III trial compares the effect of adding lomustine to temozolomide and radiation therapy versus temozolomide and radiation therapy alone in shrinking or stabilizing newly diagnosed MGMT methylated glioblastoma. Chemotherapy drugs, such as lomustine and temozolomide, work in different ways to stop the growth of tumor cells, either by killing the cells, by stopping them from dividing, or by stopping them from spreading. Radiation therapy uses high energy photons to kill tumor cells and shrink tumors. Adding lomustine to usual treatment of temozolomide and radiation therapy may help shrink and stabilize glioblastoma.
Call 833-722-6237
canceranswerline@utsouthwestern.edu
Nawal Shaikh
215214
All
18 Years to 70 Years old
Phase 3
This study is NOT accepting healthy volunteers
NCT05095376
STU-2022-0465
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Inclusion Criteria:

• STEP 1 REGISTRATION: No known IDH mutation. (If tested before step 1 registration, patients known to have IDH mutation in the tumor on local or other testing are ineligible and should not be registered)
• STEP 1 REGISTRATION: Availability of formalin-fixed paraffin-embedded (FFPE) tumor tissue block and hematoxylin and eosin (H&E) stained slide to be sent for central pathology review for confirmation of histology and MGMT promoter methylation status. Note that tissue for central pathology review and central MGMT assessment must be received by the NYU Center for Biospecimen Research and Development (CBRD) on or before postoperative calendar day 23. If tissue cannot be received by postoperative calendar day 23, then patients may NOT enroll on this trial as central pathology review will not be complete in time for the patient to start treatment no later than 6 weeks following surgery. Results of central pathology review and central MGMT analysis will generally be conveyed to NRG Oncology within 10 business days of receipt of tissue. Note: In the event of an additional tumor resection(s), tissue must be received within 23 days of the most recent resection and the latest resection must have been performed within 30 days after the initial resection. Surgical resection is required; stereotactic biopsy alone is not allowed because it will not provide sufficient tissue for MGMT analysis
• STEP 1 REGISTRATION: Contrast-enhanced brain MRI within 4 days after surgery
• Magnetic resonance imaging (MRI) with Axial T2 weighted FLAIR{preferred} or T2 TSE/FSE and 3D contrast-enhanced T1 sequences are required.
• 3-dimensional (3D) pre contrast-enhanced T1 sequences are strongly suggested
• STEP 1 REGISTRATION: Willing to use highly effective method of contraception for participants of childbearing potential (participants who may become pregnant or who may impregnate a partner) during therapy and for 6 months after completing treatment; this inclusion is necessary because the treatment in this study may be significantly teratogenic
• STEP 1 REGISTRATION: The patient or a legally authorized representative must provide study-specific informed consent prior to study entry and, for patients treated in the United States (U.S.), authorization permitting release of personal health information
• STEP 2 REGISTRATION: Histopathologically proven diagnosis of glioblastoma (or gliosarcoma as a subtype of glioblastoma) confirmed by central pathology review
• STEP 2 REGISTRATION: MGMT promoter with methylation confirmed by central pathology review (See Section 10 for details). Note: Patients with tissue that is insufficient or inadequate for analysis, fails MGMT testing, or has indeterminate or unmethylated MGMT promoter are excluded. Patients with unmethylated MGMT may be considered for enrollment on NRG-BN007
• STEP 2 REGISTRATION: IDH mutation testing by at least one method (such as immunohistochemistry for IDH1 R132H) must be performed as part of standard of care and no mutation must be found (i.e IDH wildtype). (If a mutation is identified then the patient will be ineligible and must be registered as ineligible at Step 2.)
• STEP 2 REGISTRATION: History/physical examination within 28 days prior to Step 2 registration
• STEP 2 REGISTRATION: Karnofsky performance status (KPS) >= 70 within 28 days prior to Step 2 registration
• STEP 2 REGISTRATION: Neurologic function assessment within 28 days prior to Step 2 registration
• STEP 2 REGISTRATION: Age 18-70 years
• STEP 2 REGISTRATION: Hemoglobin >= 10 g/dl (Note: the use of transfusion or other intervention to achieve hemoglobin (Hgb) >= 10.0 g/dl is acceptable)
• STEP 2 REGISTRATION: Leukocytes >= 2,000/mm^3
• STEP 2 REGISTRATION: Absolute neutrophil count >= 1,500/mm^3
• STEP 2 REGISTRATION: Platelets >= 100,000/mm^3
• STEP 2 REGISTRATION: Total bilirubin =< 1.5 x institutional/lab upper limit of normal (ULN)
• STEP 2 REGISTRATION: Aspartate aminotransferase (AST) (serum glutamic-oxaloacetic transaminase [SGOT]) =< 2.5 x ULN
• STEP 2 REGISTRATION: Alanine aminotransferase (ALT) (serum glutamate pyruvate transaminase [SGPT]) =< 2.5 x ULN
• STEP 2 REGISTRATION: Serum creatinine =< 1.5 x ULN OR creatinine clearance (CrCl) >= 50 mL/min (if using the Cockcroft-Gault formula
• STEP 2 REGISTRATION: For patients with evidence of chronic hepatitis B virus (HBV) infection, the HBV viral load must be undetectable on suppressive therapy, if indicated
• Note: Known positive test for hepatitis B virus surface antigen (HBV sAg) indicating acute or chronic infection would make the patient ineligible unless the viral load becomes undetectable on suppressive therapy. Patients who are immune to hepatitis B (anti-hepatitis B surface antibody positive) are eligible (e.g. patients immunized against hepatitis B)
• STEP 2 REGISTRATION: For patients with a history of hepatitis C virus (HCV) infection must have been treated and cured. For patients with HCV infection who are currently on treatment, they are eligible if they have an undetectable HCV viral load
• Note: Known positive test for hepatitis C virus ribonucleic acid (HCV ribonucleic acid [RNA]) indicating acute or chronic infection would make the patient ineligible unless the viral load becomes undetectable on suppressive therapy
• STEP 2 REGISTRATION: Known human immunodeficiency virus (HIV) infected patients on effective anti-retroviral therapy with undetectable viral load within 6 months prior to step 2 registration are eligible for this trial. Testing is not required for entry into protocol
• STEP 2 REGISTRATION: Negative serum or urine pregnancy test (in persons of childbearing potential) within 7 days prior to Step 2 registration
• Childbearing potential is defined as any person who has experienced menarche and who has not undergone surgical sterilization (hysterectomy or bilateral oophorectomy) or who is not postmenopausal
Exclusion Criteria:

• STEP 2 REGISTRATION: Prior therapy for tumor except for resection. For example, prior chemotherapy, immunotherapy, or targeted therapy for GBM or lower grade glioma is disallowed (including but not limited to temozolomide, lomustine, bevacizumab, any viral therapy, ipilimumab or other CTLA-4 antibody, PD-1 antibody, CD-137 agonist, CD40 antibody, PDL-1 or 2 antibody, vaccine therapy, polio or similar viral injection as treatment for the tumor, and/or any other antibody or drug specifically targeting T-cell co-stimulation or immune checkpoint pathways) as is prior Laser interstitial thermal therapy (LITT), Gliadel wafer, radiotherapy, radiosurgery, vaccine or other immunotherapy, brachytherapy, or convection enhanced delivery
• Note: 5-aminolevulinic acid (ALA)-mediated fluorescent guided resection (FGR) photodynamic therapy (PDT) or fluorescein administered prior to/during surgery to aid resection is not exclusionary and is not considered a chemotherapy or intracerebral agent
• STEP 2 REGISTRATION: Current or planned treatment with any other investigational agents for the study cancer
• STEP 2 REGISTRATION: Definitive clinical or radiologic evidence of metastatic disease outside the brain
• STEP 2 REGISTRATION: Prior invasive malignancy (except non-melanomatous skin cancer, cervical cancer in situ and melanoma in situ) unless disease free for a minimum of 2 years
• STEP 2 REGISTRATION: Prior radiotherapy to the head or neck that would result in overlap of radiation therapy fields
• STEP 2 REGISTRATION: Pregnancy and individuals unwilling to discontinue nursing due to the potential teratogenic effects and potential risk for adverse events in nursing infants
• STEP 2 REGISTRATION: History of allergic reactions attributed to compounds of similar chemical or biologic composition to temozolomide or lomustine
• STEP 2 REGISTRATION: History of pulmonary fibrosis
• STEP 2 REGISTRATION: Uncontrolled intercurrent illness including, but not limited to:
• Ongoing or active infection requiring IV antibiotics, IV antiviral, or IV antifungal treatment
• Symptomatic congestive heart failure, defined as New York Heart Association Functional Classification III/IV (Note: Patients with known history or current symptoms of cardiac disease, or history of treatment with cardiotoxic agents, should have a clinical risk assessment of cardiac function using the New York Heart Association Functional Classification)
• Unstable angina pectoris within 6 months prior to Step 2 registration
• Uncontrolled cardiac arrhythmia
• Psychiatric illness/social situations that would limit compliance with study requirements
Drug: Lomustine, Radiation: Photon Beam Radiation Therapy, Other: Quality-of-Life Assessment, Other: Questionnaire Administration, Drug: Temozolomide
Glioblastoma, Gliosarcoma
UT Southwestern; Parkland Health & Hospital System
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Assessment of Potential for Chronic Liver Injury in Participants Treated With Epidiolex (Cannabidiol) Oral Solution

This study will monitor for potential chronic liver injury and liver fibrosis, in participants treated with cannabidiol oral solution.
Call 214-648-5005
studyfinder@utsouthwestern.edu, Madeleine.Euckert@UTSouthwestern.edu
Jay Harvey
13028
All
1 Year and over
Phase 4
This study is NOT accepting healthy volunteers
NCT05044819
STU-2021-0660
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Inclusion Criteria:

• Participant is within the approved age range as per labeling recommendations.
• Participant is either on existing Epidiolex therapy for treatment of a seizure disorder or is to be started on Epidiolex for treatment of an Food and Drug Administration (FDA)-approved indication.
• Participant is willing to refrain from strenuous exercise 48 to 72 hours prior to all study visits with the exception of unscheduled visits.
• Any non-pharmacological therapies (e.g., ketogenic diet) must also be stable up to 4 weeks prior to Screening Visit and expected to be stable throughout the duration of the study.
Exclusion Criteria:

• Participant is currently using or within 3 months of screening has used recreational or medicinal cannabis, or synthetic cannabinoid-based medications, not including Epidiolex if currently prescribed.
• Participant is not planning to abstain from using recreational cannabinoids or medicinal cannabis, or synthetic cannabinoid-based medications during the study.
• Female participant is pregnant (positive pregnancy test), lactating or planning pregnancy during the course of the study and for 3 months thereafter.
• Participant has any other significant disease or disorder which, in the opinion of the investigator, may either put the participant, other participants, or site staff at risk because of participation in the study, may influence the result of the study, or may affect the participant's ability to take part in the study
• Participant has diseases or disorders which are associated with known severe liver fibrosis with a FibroScan score of ≥ 6.5 Kilopascals.
• Positive serology panel (including hepatitis B surface antigen and hepatitis C virus antibody) and/or positive human immunodeficiency virus antibody/p24 antigen screens at screening.
• Following a physical examination, if the participant has any abnormalities that, in the opinion of the investigator, would prevent the participant from safe participation in the study.
• Participant has significantly impaired hepatic function at Screening Visit alanine aminotransferase or aminotransferase > 3 x upper limit of normal (ULN), and total bilirubin > 2 x ULN or international normalized ratio > 1.5.
• Participant is planning to have epilepsy surgery or other major surgery within five years.
• Participant has or plans to have any medical device implanted that is contraindicated for use with FibroScan, with the investigator consulting with the Sponsor as needed.
• Participation in any clinical trial involving an investigational medicinal product within 3 months prior to the Screening Visit or at any point during this study.
Drug: Cannabidiol
Lennox Gastaut Syndrome, Dravet Syndrome, Brain and Nervous System, Tuberous Sclerosis Complex
Liver injury, Liver fibrosis, Epidiolex, Cannabidiol
UT Southwestern
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Study of NGM707 as Monotherapy and in Combination With Pembrolizumab in Advanced or Metastatic Solid Tumor Malignancies

Study of NGM707 as Monotherapy and in Combination with Pembrolizumab in Advanced or Metastatic Solid Tumor Malignancies
Call 833-722-6237
canceranswerline@utsouthwestern.edu
Hans Hammers
169573
All
18 Years and over
Phase 1/Phase 2
This study is NOT accepting healthy volunteers
NCT04913337
STU-2022-0183
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Inclusion Criteria:

• Histologically or cytologically documented locally advanced or metastatic solid tumor malignancy.
• Progressed or was intolerant to all available therapies known to confer clinical benefit appropriate for their tumor type, and for which the patient was eligible and willing to receive, or refused SOC treatments that are perceived to have marginal clinical benefit.
• Adequate bone marrow, kidney and liver function.
• Performance status of 0 or 1.
• Resolved acute effects of any prior therapy to baseline severity or CTCAE Grade 1 except for AEs not constituting a safety risk by Investigator judgement.
Exclusion Criteria:

• Prior treatment targeting ILT2 and/or ILT4 or targeting HLA-G.
Drug: NGM707, Drug: NGM707 plus pembrolizumab, Drug: NGM707, Drug: NGM707, Drug: NGM707, Drug: NGM707 plus pembrolizumab, Drug: NGM707 plus pembrolizumab
Esophageal Cancer, Breast Cancer, Melanoma, Gastric Cancer, Colorectal Cancer, Ovarian Cancer, Glioblastoma, Cervical Cancer, Renal Cell Carcinoma, Non Small Cell Lung Cancer, Mesothelioma, Cholangiocarcinoma, Pancreatic Ductal Adenocarcinoma, Brain and Nervous System, Breast - Female, Breast - Male, Kidney, Liver, Lung/Thoracic, Melanoma, skin, Other Digestive Organ, Other Skin, Ovary, Pancreas, Squamous Cell Carcinoma of Head and Neck, Endocervical Cancer
UT Southwestern
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Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias

Spinocerebellar ataxias (SCA) are genetic neurological diseases that cause imbalance, poor coordination, and speech difficulties. There are different kinds of SCA and this study will focus on types 1, 2,3, and 6 (SCA 1, SCA 2, SCA 3 , also known as Machado-Joseph disease and SCA 6). The diseases are rare, slowly progressive, cause increasingly severe neurological difficulties and are variable across and within genotypes. The purpose of this research study is to bring together a group of experts in the field of SCA for the purpose of learning more about the disease. The research questions are: 1. How does your disease progress over time? 2. What are the best ways to measure the progression? 3. Do some genes, other than the gene that is abnormal in your disease, have any effect on the way the disease behaves? This is a nationwide study and we expect that 800 patients will participate all over the USA. The participants will be in the study for an indeterminate period of time. Study visits will be done every 6 or 12 months depending on the participating site.
Call 214-648-5005
studyfinder@utsouthwestern.edu, jan.cameronwatts@utsouthwestern.edu
Vikram Shakkottai
174588
All
6 Years and over
This study is NOT accepting healthy volunteers
NCT01060371
STU-2021-0569
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Inclusion Criteria:

• Presence of symptomatic ataxic disease
• Definite molecular diagnosis of SCA 1, 2,3,or 6 either in the subject or another affected family member
• Willingness to participate in the study and ability to give informed consent.
• Age 6 years and above
Exclusion Criteria:

• Known recessive, X-linked and mitochondrial ataxias
• Exclusion of SCA 1, 2, 3 and 6 by previous DNA testing,
• A lack of willingness to participate in the study
Genetic: All Participants
Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 3, Spinocerebellar Ataxia Type 6
Spinocerebellar Ataxia, Natural History, Genetic Modifiers, DNA testing
UT Southwestern
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Motor Network Physiology

The brain networks controlling movement are complex, involving multiple areas of the brain. Some neurological disorders, like Parkinson's disease (PD) and essential tremor (ET), cause abnormalities in these brain networks. Deep brain stimulation is a treatment that is used to treat these types of neurological diseases and is thought to help patients by modulating brain networks responsible for movement. Levodopa medication is also used to modulate this brain networks in patients with PD. The overall objective is to develop a unified theory of basal ganglia thalamocortical (BGTC) circuit dynamics that accounts for disease symptomatology, movement, and their inter-relationship. The underlying hypothesis, is that the rigidity and bradykinesia of PD are fundamentally related to excessive functional coupling across nodes in the BGTC motor circuit impeding effective information flow. In this research, the investigator will take advantage of the unique opportunity provided by awake deep brain stimulation surgery to learn more about how the brain functions in a diseased state and how deep brain stimulation changes these networks to make movement more normal. The investigator will simultaneously assess cortical and subcortical electrophysiology in relation to clinical symptoms and behavioral measures and in response to deep brain stimulation, cortical stimulation, and pharmacologic therapy in patients undergoing Deep Brain Stimulation (DBS) implantation surgery.
Call 214-648-5005
studyfinder@utsouthwestern.edu, Lillian.Whipple@UTSouthwestern.edu
Nader Pouratian
205161
All
18 Years to 89 Years old
This study is NOT accepting healthy volunteers
NCT04957095
STU-2021-0376
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Inclusion Criteria:

• Diagnosis of Parkinson's disease or Essential Tremor who have been recommended to undergo deep brain stimulation for management of their movement disorder
• Preoperative MRI without evidence of cortical or subdural adhesions or vascular abnormalities
• Willingness and ability to cooperate during conscious operative procedure for up to 40 minutes
Exclusion Criteria:

• Patients with recent use (within one week) of anticoagulant or antiplatelet agents
• Neurocognitive testing indicating amnestic cognitive deficits
Drug: Inbrija, Other: Subcortical Stimulation
Parkinson Disease, Essential Tremor, Brain and Nervous System
deep brain stimulation, levodopa medication, motor cortex, basal ganglia, thalamus
UT Southwestern
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Mapping the Phenotype in Adults With Phelan-McDermid Syndrome

The protocol aims to comprehensively define the phenotype of Phelan-McDermid Syndrome and to identify potential genetic factors, which may play a role in the variability of the disease's outcomes. The first aim involves a physical exam, a neurological exam, collection of medical history information, a clinical genetic evaluation, blood work and neuropsychological assessments. If clinically indicated, the protocol collects information from medical tests. These medical tests may include electrocardiography, echocardiography, renal ultrasonography, and renal ultrasound.
Call 214-648-5005
studyfinder@utsouthwestern.edu, adrian.avila@utsouthwestern.edu
Kimberly Goodspeed
95398
All
22 Years and over
This study is NOT accepting healthy volunteers
NCT03426059
STU 022018-082
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Inclusion Criteria:

• Participant is 22 years of age and older at the time of enrollment
• Participant has been diagnosed with pathogenic deletions or mutations of the SHANK3 gene
• Participant is proficient in English
• Participant provided consent
Exclusion Criteria:
Other: No Intervention
Intellectual Disability, Phelan-McDermid Syndrome, Autism Spectrum Disorder
Phelan-McDermid Syndrome, PMS, Genotype, Phenotype, Mapping, 22q13 Deletion Syndrome, SHANK3, Autism Spectrum Disorder, ASD, Intellectual Disability, ID
UT Southwestern
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Exploring the Modulatory Role of Sex Hormones Along the Neuromechanical Axis in Females (EMRSHN)

The goal of this project is to test our central hypothesis that changes in sex hormone concentration result in changes to the basic elements of motor control - at multiple levels, from the musculotendinous unit to motor control circuitry. Under Aim 1 the investigator will determine the influence of sex hormone fluctuations on the muscle stretch reflex during active and passive states, and the time lag between hormone concentration changes and the reflex response. The investigator will use a technically simple assessment that could be implemented in the field. Under Aim 2 the investigator will determine the influence of sex hormone fluctuations on spinal motor neuron excitability using H-reflex as a probe and the simultaneous change in the muscle mechanics using muscle twitch response. Aims 1 & 2 will include a focus on the differential role of oral contraceptives. In Aim 3 the investigator will use paired-pulse transcranial magnetic stimulation during active contraction to determine the influence of sex hormone fluctuation.
Call 214-648-5005
studyfinder@utsouthwestern.edu, Kathleen.Mcgovern@UTSouthwestern.edu
Yasin Dhaher
175158
All
18 Years to 39 Years old
N/A
This study is also accepting healthy volunteers
NCT03947684
STU-2018-0192
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Inclusion Criteria:

• Females: ages 18-39 years, who are eumenorrheic (regular monthly cycles of 24-35 days) or on a stable hormonal contraceptive regimen for 6 months (oral, transdermal or vaginal), no history of pregnancy, moderately active (less than 7 hours of vigorous physical activity per week)
• Males: Ages 18-39
Exclusion Criteria:

• History of musculoskeletal or orthopedic injury of the spine, hip, knee, ankle or foot, history of neurological injury of the peripheral or central nervous system, current smoker, history of disordered eating, history of stress fracture in the lower limb, history of a connective tissue disorder (Marfan's syndrome, Ehlers-Danlos disease).
• For female participants only: Point of care screening for anemia will be completed, and individuals with hemoglobin levels <11.6 g/dl will be excluded from participating in the study.
• Specific exclusion criteria for TMS (male and female): pacemaker, metal implants in the head region, history of epilepsy or seizures, skull fractures or skull deficits, concussion within the last 6 months, unexplained recurring headaches, medications that lower seizure threshold, and pregnancy.
• Additional exclusion criteria for female participants: History of menstrual dysfunction (primary or secondary amenorrhea, oligomenorrhea, anovulatory cycles, polycystic ovarian disease), current or past pregnancy, started or stopped taking oral contraceptives within the previous 6 months, exercise vigorously more than 7 hours per week or currently participating in competitive level sports. The reason for excluding highly active or competitive athletes is due to the high rate of undiagnosed menstrual dysfunction in females of this population.
• This study will not include: adults unable to consent, Individuals who are not yet adults (infants, children, teenagers), pregnant women or prisoners.
Device: Transcranial Magnetic Stimulation Device
Role of Sex Hormones Along the Neuromechanical Axis
Sex Hormones
UT Southwestern; Parkland Health & Hospital System
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Brain Networks and Consciousness

General anesthesia (GA) is a medically induced state of unresponsiveness and unconsciousness, which millions of people experience every year. Despite its ubiquity, a clear and consistent picture of the brain circuits mediating consciousness and responsiveness has not emerged. Studies to date are limited by lack of direct recordings in human brain during medically induced anesthesia. Our overall hypothesis is that the current model of consciousness, originally proposed to model disorders and recovery of consciousness after brain injury, can be generalized to understand mechanisms of consciousness more broadly. This will be studied through three specific aims. The first is to evaluate the difference in anesthesia sensitivity in patients with and without underlying basal ganglia pathology. Second is to correlate changes in brain circuitry with induction and emergence from anesthesia. The third aim is to evaluate the effects of targeted deep brain stimulation on anesthesia induced loss and recovery of consciousness. This study focuses on experimentally studying these related brain circuits by taking advantage of pathological differences in movement disorder patient populations undergoing deep brain stimulation (DBS) surgery. DBS is a neurosurgical procedure that is used as treatment for movement disorders, such as Parkinson's disease and essential tremor, and provides a mechanism to acquire brain activity recordings in subcortical structures. This study will provide important insight by using human data to shed light on the generalizability of the current model of consciousness. The subject's surgery for DBS will be prolonged by up to 40 minutes in order to record the participant's brain activity and their responses to verbal and auditory stimuli.
Call 214-648-5005
studyfinder@utsouthwestern.edu, Lillian.Whipple@UTSouthwestern.edu
Nader Pouratian
205161
All
18 Years and over
This study is NOT accepting healthy volunteers
NCT04502550
STU-2021-0396
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Inclusion Criteria:

• Willingness and ability to cooperate during conscious operative procedure for up to 40 minutes
• Clinical diagnosis of Parkinson's disease or essential tremor
• Preoperative MRI without evidence of cortical or subdural adhesions or vascular abnormalities
Exclusion Criteria:

• Patients with recent use (within one week) of anticoagulant or antiplatelet agent use
• Neurocognitive testing indicating amnestic cognitive deficits
• History of intolerance of propofol or medical indications to use an anesthetic other than propofol
Drug: Propofol
Parkinson Disease, Anesthesia, Essential Tremor, Brain and Nervous System, Loss of Consciousness
general anesthesia, deep brain stimulation, basal ganglia, thalamus, sensorimotor cortex
UT Southwestern
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Multicenter Sub-study for LAANTERN Registry NCT02392078 That Will Include Comprehensive Neuropsychological Assessment Data Collection

PatiEnt Neuropsychological outcomeS After laseR ablation
Call 214-648-5005
studyfinder@utsouthwestern.edu, Madeleine.Euckert@UTSouthwestern.edu
Christian LoBue
127352
All
16 Years and over
This study is NOT accepting healthy volunteers
NCT05075850
STU-2022-0076
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Inclusion Criteria:
1. Patient or legally authorized representative provides written authorization and/or consent. 2. Patient is enrolled in the LAANTERN trial and had an epilepsy diagnosis without the presence of a malignant brain tumor. 3. Patient is 16 years of age or older. 4. Patient has completed a baseline comprehensive neuropsychological assessment with a neuropsychologist.
Exclusion Criteria:
1. Patient does not complete the index LITT procedure as specified in the LAANTERN registry.
Device: Neuroblate System
Brain and Nervous System, Cognitive Change
Quality of Life, Neuropsychological Test Scores, Visual Field
UT Southwestern
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Dystonia Genotype-Phenotype Correlation

The purpose of this study is to (1) investigate the effect of known dystonia-causing mutations on brain structure and function, to (2) identify structural brain changes that differ between clinical phenotypes of dystonia, and to (3) collect DNA, detailed family history, and clinical phenotypes from patients with idiopathic dystonia with the goal of identifying new dystonia-related genes. Investigators will be recruiting both healthy control subjects and subjects with any form of dystonia. For this study there will be a maximum of two study visit involving a clinical assessment, collection of medical and family history, task training session, an MRI using the learned tasks, and finally a blood draw for genetic analysis. In total, these visits will take 3-5 hours. If the dystonia subjects receive botulinum toxin injections for treatment, the participants and their matched controls will be asked to come for a second visit.
Call 214-648-5005
studyfinder@utsouthwestern.edu, Jessica.Clark@UTSouthwestern.edu
Jeffrey Waugh
40638
All
11 Years and over
This study is also accepting healthy volunteers
NCT03428009
STU 122017-069
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General Exclusion (both Dystonia and Control groups):
• Metal in any part of the body (including metal injury to the eye) OR carrying a medical device incompatible with MRI (e.g., metal implants such as surgical clips or pacemakers) OR positive screening per UTSW MRI screening form
• Claustrophobia
• Non-fluent English
• Weight incompatible with MRI safety
• History of head trauma with neurological sequelae, including multiple concussions and/or history of stroke
• Pregnancy
• Serious medical illness or history of serious medical illness, including cancer that was treated with radiation or chemotherapy, heart attack, or a known history of HIV-1 + status
• Subjects with Hepatitis C (by Hepatitis C+ titer)
• Subjects with insulin dependent diabetes mellitus (IDDM)
• Severe respiratory compromise
• In the opinion of the investigator, not able to safely participate in this study
Inclusion Criteria:

• Dystonia group Previous diagnosis of dystonia which include but is not limited to:
• cervical dystonia (50 subjects)
• blepharospasm (25 subjects)
• limb dystonia (50 subjects)
• spasmodic dysphonia (25 subjects)
• segmental dystonia
• multi-focal dystonia
• Any childhood-onset dystonia (25 subjects) Age > 11 years
• Control group: No prior dystonia diagnosis (175 subjects) Age > 11 years
Exclusion Criteria:

• Dystonia group Prior history of or concurrent neurological or psychiatric diagnosis - depression and/or anxiety accepted Current use of non-dystonia neuroactive medications
•SSRI/medication for depression and/or anxiety accepted Current use of cervical brace designed for dystonia treatment Prior structural brain injury Control group: History of or current neurological or psychiatric diagnosis
•depression and/or anxiety accepted, but must not be in active phase Current use of any neuroactive medication, SSRI/medication for depression and/or anxiety accepted
Other: Magnetic Resonance Imaging
Dystonia, Dystonia, Idiopathic, Dystonia, Primary, Dystonia, Secondary, Dystonia, Familial, Dystonia Disorder, Dystonias, Sporadic, Dystonia, Orofacial, Dystonia Lenticularis, Dystonia, Paroxysmal, Dystonia 6, Dystonia 5, Dystonia 8, Dystonia 9, Dystonia 19, Dystonia 10, Dystonia 11, Dystonia 20, Dystonia 12, Dystonia, Focal, Dystonia of Head, Dystonia, Diurnal
Dystonia, Control, Magnetic Resonance Imagine, Genotype, Phenotype
UT Southwestern; Children’s Health
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Multimodal Monitoring of Cerebral Autoregulation After Pediatric Brain Injury

Various methods have been studied to evaluate autoregulation. However, there is currently no universally accepted technique to assess integrity of the cerebral autoregulation neurovascular system. In the last decade, significant progress has been achieved in developing methods to assess cerebral autoregulation by quantifying cross-correlation between spontaneous oscillations in CBF or oxygenation and similar oscillations in arterial blood pressure. In this study the investigators will analyze the relationship between spontaneous fluctuations in mean arterial blood pressure and cerebral blood flow velocity or cerebral regional oxygenation to investigate two novel methods for measuring cerebral autoregulation, Transfer Function Analysis and Wavelet Coherence after acute pediatric brain injury.
Call 214-648-5005
studyfinder@utsouthwestern.edu, DARRYL.MILES@UTSouthwestern.edu
Darryl Miles
55956
All
28 Days to 18 Years old
N/A
This study is also accepting healthy volunteers
NCT04242602
STU 042018-056
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Inclusion Criteria:

• Ages 28 days-18 years admitted to the PICU at Children's Medical Center Dallas
• Acute presentation (< 24 hour) onset of neurologic injury
• Acute neurologic injury can be due to any of the following mechanisms:
• Severe accidental or abusive traumatic brain injury
• Severe encephalopathy secondary to cardiac arrest
• Spontaneous intracranial hemorrhage
• Status epilepticus
• Stroke
• Presence of or pending placement of invasive indwelling arterial line for stand medical care
• Any patient with an ICP monitor placed as standard of care
Exclusion Criteria:

• Patients without an arterial line placed as standard of care
• Patients unable to cooperate with wearing a TCD headpiece device
• Expected death within 24-48 hours
• Inability to place NIRS probes or insonate TCD signal due to massive facial or cranial injury
• Receiving an inhalational anesthetic agent
• Hemoglobinopathy, myoglobinemia or and hyperbilirubinemia (due to inaccurate NIRS readings)
Device: Transcranial Doppler
Traumatic Brain Injury, Brain Injuries, Brain Injury, Vascular, Brain and Nervous System
Children’s Health
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Brain Metabolism Observed at 7 Tesla

The goal is to develop methodology to monitor flux in the citric acid cycle in brain via 13C nuclear magnetic resonance (NMR) spectroscopy at 7 Tesla.
Call 214-648-5005
studyfinder@utsouthwestern.edu, adrian.avila@utsouthwestern.edu
Juan Pascual
85158
All
16 Years to 65 Years old
This study is also accepting healthy volunteers
NCT05085704
STU-2021-0560
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Inclusion Criteria:
1. Adolescents and adults with previously documented diagnosis of Glut1 Deficiency with diagnosis genetically confirmed or confirmed by PET scan of the brain. 2. Ages 16 to 65 3. Persons with dental fillings, dental crowns, and short (max.4 cm) dental retainer wires can be included.
Exclusion Criteria:
1. People or patients with uncontrolled seizure disorder, defined as grand mal (not absence) seizure in the preceding 3 months. 2. Pregnant females will be excluded. A serum or urine pregnancy test will be administered to all females of child bearing potential within 24 hours of administration of the tracer and MRI scan. The pregnancy test will be communicated in person by the study PI. Positive results in subjects 17 years old or younger will be disclosed to parent/guardian only. 3. Subjects with typical implanted orthopedic metal in bone may be considered for inclusion in a 7T scan providing the implant is not within the volume of the radio frequency coil. The PI and the AIRC Medical Director will discuss each case and determine eligibility. 4. Persons with ICD, pacemakers, neurostimulators and other such devices will be excluded. 5. Persons with claustrophobia are excluded. 6. Persons with questionable ferrous implants, bullets, BB's, and shrapnel will be excluded. 7. Subjects who are not fluent in English will be excluded because immediate cooperation and the ability to respond to instructions from the investigators are necessary.
Device: Magnetic resonance imaging
Glucose Transporter Type 1 Deficiency Syndrome, Epilepsy, Glut1 Deficiency Syndrome 1, Autosomal Recessive, Glucose Metabolism Disorders, Glucose Transport Defect, Glucose Transporter Protein Type 1 Deficiency Syndrome, Glut1 Deficiency Syndrome 1
UT Southwestern
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Framing Eighteen Coils in Cerebral Aneurysms Trial (FEAT)

This trial is being conducted in order to compare angiographic outcomes in patients receiving 0.014-0.0155" platinum framing and filling coils (larger diameter coils) versus those treated solely with coils less than 0.014" (with a standard diameter). Hypothesis: Angiographic occlusion at follow-up imaging will be more frequent in patients receiving 0.014-0.0155" platinum coils during embolization compared to those receiving smaller-diameter coils.
Call 214-648-5005
studyfinder@utsouthwestern.edu, Tashinga.Mupambo@UTSouthwestern.edu
Babu Welch
67812
All
18 Years to 80 Years old
Phase 3
This study is NOT accepting healthy volunteers
NCT01655784
STU 072012-063
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Inclusion Criteria:
1. Patient presenting with ruptured or unruptured cerebral aneurysm appropriate for endovascular treatment as determined by the neurovascular treating team (neurointerventionist and/or neurosurgeon). 2. The neurointerventionist feels that the aneurysm can be safely treated with either using, or not using, a 0.015-0.0155" platinum coil. 3. Patients are 18-80 years of age (inclusive). 4. Patient must be Hunt and Hess grade 0 to 3. 5. Patient has given fully informed consent to endovascular coiling procedure. If the patient cannot consent for themselves, appropriate written consent has been sought from their next of kin or appropriate power of attorney. 6. Aneurysm 6-14 mm in maximum diameter. 7. Patient is willing and able to return for clinical evaluation and follow-up imaging evaluation (angiography or MRA) at 3-6 months and 12-18 months after endovascular treatment. 8. The patient has not been previously randomized into this trial or another related ongoing trial. 9. The aneurysm has not been previously treated by coiling or clipping.
Exclusion Criteria:
1. Patient has more than one aneurysm requiring treatment in the current treatment session, and only one of those to be treated aneurysms fits the FEAT inclusion criteria (ie
•if either (1) a patient has multiple aneurysms, but only one will be treated at enrollment; or (2) if two or more aneurysms are treated during the current treatment session and BOTH are able to be enrolled, then they remain eligible for the trial). Non-treated additional aneurysms may be treated at a later date with any coil type that the operator chooses). 2. Target aneurysm has had previous coil treatment or has been surgically clipped. 3. Hunt and Hess score is 4 or 5 after subarachnoid hemorrhage. 4. Inability to obtain informed consent. 5. Medical or surgical co-morbidity such that the patient's life expectancy is less than 2 years.
Procedure: Coil Embolization with larger Diameter Coils, Procedure: Coil Embolization with Standard Diameter Coils
Cerebral Aneurysm
aneurysm, intracranial aneurysm, cerebral aneurysm, intracranial embolization, aneurysm embolization, intracranial coil, eighteen coils, bare platinum coils, GDC Coil, Target Coil
Parkland Health & Hospital System
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Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD) (MOVE FSHD)

The primary goal of this proposal is to collect motor and functional outcomes specific to FSHD over time. By collecting measures specific to FSHD, this will help ensure the best level of clinical care is being provided. Also, the hope is to speed up drug development by gaining a better understanding of how having FSHD impacts motor function and other health outcomes (i.e. breathing, wheelchair use, etc.) and how big a change in motor function would be clinically meaningful to those with FSHD. Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD) will have approximately 450 FSHD participants followed for a minimum of 3 years. A subset of MOVE FSHD participants, approximately 200, will participate in the MOVE+ sub-study which includes whole body MRI and muscle biopsy.
Call 214-648-5005
studyfinder@utsouthwestern.edu, Sean.Evans@UTSouthwestern.edu
Jaya Trivedi
46764
All
Not specified
This study is NOT accepting healthy volunteers
NCT04635891
STU-2020-0726
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Inclusion Criteria:

• Genetically confirmed FSHD (types 1 or 2) or clinical diagnosis of FSHD with characteristic findings on exam and an affected parent or offspring.
Exclusion Criteria:

• Unwilling or unable to provide informed consent.
• Any other medical condition which in the opinion of the investigator would interfere with study participation.
FSHD
UT Southwestern
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Validation of Early Prognostic Data for Recovery Outcome After Stroke for Future, Higher Yield Trials (VERIFY)

VERIFY will validate biomarkers of upper extremity (UE) motor outcome in the acute ischemic stroke window for immediate use in clinical trials, and explore these biomarkers in acute intracerebral hemorrhage. VERIFY will create the first multicenter, large-scale, prospective dataset of clinical, transmagnetic stimulation (TMS), and MRI measures in the acute stroke time window.
Call 214-648-5005
studyfinder@utsouthwestern.edu, Madeleine.Euckert@UTSouthwestern.edu
Nneka Ifejika
166870
All
18 Years and over
This study is also accepting healthy volunteers
NCT05338697
STU-2021-1134
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Inclusion Criteria:

• Age 18 years or older
• Unilateral stroke due to ischemia or intracerebral hemorrhage
• Motor deficits in the acutely affected UE, defined as a Shoulder Abduction and Finger Extension (SAFE) score ≤ 8 out of 10 points (i.e., excluding full or nearly full motor strength in both shoulder abduction and finger extension) within 48 to 96 hours of stroke onset (or time last known well).
• Provision of signed and dated informed consent form within 48 to 96 hours of stroke onset (or time last known well).
• Stated willingness to comply with all study procedures and availability for the duration of the study
• Fluent in English or Spanish
Exclusion Criteria:

• UE injury or conditions on paretic side that limited use prior to the stroke.
• Legally blind.
• Dense sensory loss indicated by a score of 2 on NIHSS sensory item
• Unable to abduct the shoulder or extend the fingers of the non-paretic arm/hand/wrist on verbal command
• Isolated cerebellar stroke
• Bilateral hemisphere acute strokes
• Co-enrollment in a trial of an intervention targeting the incident stroke (acute treatment or rehabilitation/recovery intervention) after baseline assessments for VERIFY are initiated
• Known or expected inability to maintain follow-up with study procedures through 90 days
• Cognitive or communication impairment precluding informed consent by the participant.
• Major medical, neurological, or psychiatric condition that would substantially affect functional status
• Non-cerebrovascular diagnosis associated with unlikely survival at 90 days
• Pregnancy
• Contraindication to noncontrast MRI (i.e., certain metallic implants, metallic foreign bodies or severe claustrophobia)
• Contraindication to TMS (i.e., cardiac pacemaker or other electronic devices in the body at or above the level of the seventh cervical vertebra, such as cochlear implant, cortical stimulator, deep brain stimulator, vagus nerve stimulator, cervical spine epidural stimulator, or ventriculoperitoneal shunt; Skull defect related to current stroke; Seizure after onset of current stroke; Seizure within the last 12 months while taking anti-epileptic medications; Previous serious adverse reaction to TMS)
• Unable to perform behavioral assessments within 48-120 hours of symptom onset
• Unable to receive TMS or get MRI within 72-168 hours of symptom onset
• Anticipated inability to perform study procedures within 168 hours of symptom onset.
Diagnostic Test: Transcranial Magnetic Stimulation (TMS)
Stroke, Stroke, Acute, Stroke Hemorrhagic, Stroke, Ischemic
UT Southwestern
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Efficacy in iNPH Shunting (PENS) Trial (PENS)

The Placebo-Controlled Efficacy in Idiopathic Normal Pressure Hydrocephalus (iNPH) Shunting (PENS) trial is a multi-center blinded, randomized, placebo-controlled design investigation of cerebrospinal fluid (CSF) shunt surgery to study the shunt efficacy in iNPH patients.
Call 214-648-5005
studyfinder@utsouthwestern.edu, Tashinga.Mupambo@UTSouthwestern.edu
Jonathan White
35953
All
60 Years and over
N/A
This study is NOT accepting healthy volunteers
NCT05081128
STU-2022-0007
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Inclusion Criteria:
1. Age ≥ 60 years; and 2. Diagnosis of iNPH and recommendation for shunt surgery based on the Investigator's clinical judgement based on criteria and testing as described in the iNPH Guidelines; 3. Evans Ratio ≥ 0.30; and 4. One positive supplementary test to include either large volume Lumbar Puncture or extended CSF drainage per institutional standards; and 5. History or evidence of gait impairment (such as decreased step height or length, decreased speed, retropulsion as described in the iNPH Guidelines) duration ≥ 6 months; and 6. Participant has the sensory motor skills, communication skills and understanding to comply with the testing and reporting required in the PENS trial; and 7. Participant is able to give written informed consent.
Exclusion Criteria:
1. Unable to walk 10 meters with or without an assistive device; or 2. Baseline fastest gait velocity (out of three gait trials) >1 m/sec prior to drainage trial and fastest gait velocity improvement is < 30% with or without an assistive device; or 3. Unable to return to the study center for follow up evaluation and shunt programming; or 4. Participant is not medically cleared for shunt surgery per local standards; or 5. Secondary NPH. (Prior encephalitis, meningitis, subarachnoid hemorrhage, traumatic brain injury (including concussion) within two years or with brain injury or skull fracture on baseline imaging, brain abscess, brain tumor, obstructive hydrocephalus (including acquired aqueductal stenosis and carcinomatous meningitis); or 6. Prior or existing shunts, endoscopic third ventriculostomy, or any previous surgical intervention for hydrocephalus; or 7. Previous intracranial neurosurgical procedure; or 8. Symptomatic cerebral or cerebellar infarction occurring within 6 months from screening (asymptomatic lacunar infarctions are permitted); or 9. Diagnosis of Parkinsonian syndrome that, in the investigator's judgment, will complicate the outcome evaluation; or 10. Diagnosis of schizophrenia or any psychiatric diagnosis (including depression) that, in the investigator's judgment, will complicate the outcome evaluation (such as neuroleptic treatment for schizophrenia); or 11. Diagnosis of dementia disorder where the investigator considers cognition deficit limits participation in the study; or 12. Conditions impairing gait that are considered to be unrelated to hydrocephalus, such as hemiparesis, spasticity, cerebellar ataxia or musculoskeletal and joint disease, which will interfere with gait assessment or the potential for gait improvement. 13. Individuals with contraindication to MRI (e.g., implanted electric and electronic devices, aneurysm clip(s), any metallic fragment or foreign body, coronary and peripheral artery stents, cardiac pacemaker, known claustrophobia, or known/possible pregnancy or breast-feeding) will be excluded according to institutional guidelines.
Device: programmable CSF shunt valve
Idiopathic Normal Pressure Hydrocephalus (INPH)
UT Southwestern
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Environmental Epidemiology of Essential Tremor (RULET)

This study's research is devoted to studying the causes of tremor, and especially essential tremor (ET), which is the most common type of tremor. Previous studies have revealed a link between harmane [HA], a dietary neurotoxin, and ET; these studies now also suggest a link between this toxin and Parkinson's disease (PD), a related tremor disorder. Yet these links are tentative rather than conclusively established; therefore, in this new patient-based proposal, which incorporates investigations spanning two continents (North America and Europe), utilizes several complementary study designs (prospective cohort, case control), and draws on several types of tissue (blood, brain), our goal is to nail down the links between HA and ET and to further solidify the emerging links between HA and PD.
Call 214-648-5005
studyfinder@utsouthwestern.edu, Nora.Hernandez@UTSouthwestern.edu
Elan Louis
197185
All
50 Years and over
This study is also accepting healthy volunteers
NCT04576676
STU-2020-0563
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Inclusion Criteria:

• Essential Tremor
• Subjects must be 50 years of age or older.
• Subjects must have been diagnosed with Essential Tremor
• Subjects must live within 3 hours of UTSW
• Parkinson's Disease
• Subjects must be 50 years of age or older.
• Subjects must have been diagnosed with Parkinson's Disease
• Subjects must live within 3 hours of UTSW
• Healthy Individuals
• Healthy individuals living within 3 hours of UTSW
• Subjects must be 50 years of age or older
• You are healthy and have not being diagnosed with any neurological disease
• Essential Tremor and Parkinson's Disease
• Subjects must be 50 years of age or older.
• Subjects must have been diagnosed with Essential Tremor
• Subjects must have been diagnosed with Parkinson's Disease preceded by at least 3 years of enrollment in study
• Subjects must live within 3 hours of UTSW
Exclusion Criteria:

• Healthy Individuals
• Subjects with medical history of neurological conditions
• Subjects with family history of neurological condition
• Subjects with spouse diagnosed with Essential Tremor or Parkinson's Disease
• Essential Tremor
• Subjects with medical history of another movement disorder such as Parkinson's Disease or dystonia
• Subjects with head tremor that preceded hand tremor
• Parkinson's Disease --Subjects with medical history of Essential Tremor
• Essential Tremor and Parkinson's Disease
• Criteria that does not meet inclusion
Parkinson Disease, Essential Tremor, Brain and Nervous System
UT Southwestern
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Study of Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy (DEVOTE)

The primary objectives of this study are to examine the clinical efficacy of nusinersen administered intrathecally at higher doses to participants with spinal muscular atrophy (SMA), as measured by change in Children's Hospital of Philadelphia-Infant Test of Neuromuscular Disorders (CHOP-INTEND) total score (Part B); to examine the safety and tolerability of nusinersen administered intrathecally at higher doses to participants with SMA (Parts A and C). The secondary objectives of this study are to examine the clinical efficacy of nusinersen administered intrathecally at higher doses to participants with SMA (Parts A, B and C); to examine the effect of nusinersen administered intrathecally at higher doses to participants with SMA (Parts A and C); to examine the safety and tolerability of nusinersen administered intrathecally at higher doses to participants with SMA, to examine the effect of nusinersen administered intrathecally at higher doses compared to the currently approved dose in participants with SMA (Part B).
Call 214-648-5005
studyfinder@utsouthwestern.edu, Tammy.Ramm@UTSouthwestern.edu
Susan Iannaccone
13463
All
7 Days and over
Phase 3
This study is NOT accepting healthy volunteers
NCT04089566
STU-2019-1689
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Key
Inclusion Criteria:
Part A, B and C:
•Genetic documentation of 5q SMA (homozygous gene deletion, mutation, or compound heterozygote) Part A:
• Onset of clinical signs and symptoms consistent with SMA at > 6 months (> 180 days) of age (i.e., later-onset SMA)
• Age 2 to ≤ 15 years, inclusive, at the time of informed consent Part B:
• Participants with SMA symptom onset ≤ 6 months (≤ 180 days) of age (infantile onset) should have age > 1 week to ≤ 7 months (≤ 210 days) at the time of informed consent
• Participants with SMA symptom onset > 6 months (> 180 days) of age (later onset):
• Age 2 to < 10 years at the time of informed consent
• Can sit independently but has never had the ability to walk independently
• HFMSE score ≥ 10 and ≤ 54 at Screening Part C:
•Currently on nusinersen treatment at the time of Screening, with the first dose being at least 1 year prior to Screening Part C Cohort 1:
•Participants of any age (individuals ≥18 years of age at Screening must be ambulatory) Part C Cohort 2:
• Participants ≥18 years of age at Screening (can be ambulatory or nonambulatory)
• HFMSE total score ≥4 points at Screening
• RULM entry item A score ≥3 points at Screening Key
Exclusion Criteria:
Part A, B and C:
• Presence of an untreated or inadequately treated active infection requiring systemic antiviral or antimicrobial therapy at any time during the Screening period
• Presence of an implanted shunt for the drainage of cerebrospinal fluid (CSF) or of an implanted central nervous system (CNS) catheter
• Hospitalization for surgery, pulmonary event, or nutritional support within 2 months prior to Screening or planned within 12 months after the participant's first dose Part A:
• Respiratory insufficiency, defined by the medical necessity for invasive or noninvasive ventilation for > 6 hours during a 24-hour period, at Screening
• Medical necessity for a gastric feeding tube
• Treatment with an investigational drug given for the treatment of SMA, biological agent, or device within 30 days or 5 half-lives of the agent, whichever is longer, prior to Screening or anytime during the study; any prior or current treatment with any survival motor neuron-2 gene (SMN2)-splicing modifier or gene therapy; or prior antisense oligonucleotide treatment, or cell transplantation Part B:
• Treatment with an investigational drug including but not limited to the treatment of SMA, biological agent, or device within 30 days or 5 half-lives of the agent, whichever is longer, prior to Screening or anytime during the study; any prior or current treatment with any SMN2-splicing modifier or gene therapy; or prior antisense oligonucleotide treatment, or cell transplantation
• Participants with SMA symptom onset > 6 months (> 180 days) of age (later onset):
• Respiratory insufficiency, defined by the medical necessity for invasive or noninvasive ventilation for > 6 hours during a 24-hour period, at Screening
• Medical necessity for a gastric feeding tube
• Participants with SMA symptom onset ≤ 6 months (≤ 180 days) of age (infantile onset): Signs or symptoms of SMA present at birth or within the first week after birth Part C:
• Concurrent or previous participation and/or administration of nusinersen in another clinical study
• Concomitant or previous administration of any SMN2-splicing modifier (excluding nusinersen) or gene therapy, either in a clinical study or as part of medical care.
• Concurrent or previous participation in any interventional investigational study for any other drug or device within 30 days or 5 half-lives of the agent, whichever is longer, prior to Screening NOTE: Other protocol defined Inclusion/Exclusion criteria may apply.
Drug: Nusinersen
Muscular Atrophy, Spinal
Children’s Health
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Aging and Disease Course: Contributions to Lifespan Neurobiology of Schizophrenia

The 2020 NIMH Strategic Plan for Research calls for investigations targeting neurobiology of mental illness across the lifespan. Growing evidence suggests that lifespan neurobiology of schizophrenia (SZ) incorporates two distinct dimensions: aging and disease course. However, their clinical correlates, associated biomarker trajectories, and implications for treatment are unknown. This study will investigate differential aspects of SZ neurobiology captured by aging and disease course, in order to develop specific biomarkers which may offer actionable targets for SZ stage-dependent intervention. The study is predicated on a novel mechanistic Model of SZ Trajectories across the Adult Lifespan, positing distinct biological fingerprints within the anterior limbic system for aging and disease course in SZ: (1) alterations in the circuit's function and structure that occur earlier in the lifespan and are larger in magnitude than the alterations expected with normal aging (accelerated aging dimension); and (2) regionally-specific anterior limbic "hyperactivity" in early SZ, with a subsequent transformation into "hypoactivity" in advanced SZ (disease course dimension). In a sample of SZ and matched healthy controls (n=168, 84/group) aged 18-75 years the investigators will ascertain a broad panel of biomarkers [via multimodal brain imaging: optimized 1H-MRS, high-resolution task-based fMRI, perfusion (Vascular Space Occupancy) and structural MRI], along with comprehensive cognitive and clinical assessments. All measures will be acquired at baseline and repeated at 2-year longitudinal follow-up. Using cutting-edge computational approaches, the study will examine (i) effects of aging and SZ course on anterior limbic system biomarkers; (ii) lifespan trajectories for different biomarkers; (iii) patterns of limbic system biomarkers in age- and SZ course-based subgroups (e.g., Younger vs. Older, Early-Course vs. Advanced SZ), as well as in data-driven subgroups (e.g., those with vs. without accelerated aging profiles); and (iv) associations between biomarkers and cognitive and clinical outcomes. This research will advance the field by providing novel biomarkers that capture unique neurobiological contributions of aging and disease course in SZ, and will motivate future studies on SZ mechanisms across the lifespan and development of precision treatments.
Call 214-648-5005
studyfinder@utsouthwestern.edu, Monserrat.Feria-Vargas@UTSouthwestern.edu
Elena Ivleva
70523
All
18 Years to 75 Years old
This study is also accepting healthy volunteers
NCT04951700
STU-2021-0413
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Inclusion Criteria:

• 18-65 years of age (SZ); 18-75 years of age (CON)
• Women and men
• All races and ethnicities
• Psychiatric diagnoses: Patient participants (SZ): Meet DSM-5 criteria for schizophrenia or schizoaffective disorder Healthy control participants (CON): No personal history of lifetime psychiatric disorders, or a family history of psychotic disorders in 1st-or 2nd- degree relatives
• Able to read, speak, and understand English
• Able and willing to provide written informed consent; and willing to commit to the study protocol, including 2-year longitudinal follow-up
Exclusion Criteria:
• Compromised cognitive function: Both SZ and CON participants: Estimated premorbid intellectual ability <75 age-corrected score on Wide Range Achievement Test-4/Word Reading Subtest (WRAT-4) CON participants: <26 score on the Montreal Cognitive Assessment (MoCA)
• Neurological or medical disorder that may affect brain function (history of stroke, head injury with a loss of consciousness >10 min, seizure disorder, AIDS, poorly controlled hypertension, poorly controlled diabetes, decompensated lung disease, etc.)
• Co-morbid DSM-5 diagnosis of drug/alcohol use disorder in prior 3 months
• Current treatment with benzodiazepine or non-benzodiazepine sedatives/hypnotics, and/or anticonvulsants
• Presence of ferromagnetic objects in body
• Weight or body size exceeding MRI scanner capacity [>300 lbs]
• Claustrophobia in MRI scanner
• Pregnant women
• Breastfeeding women (VASO scan will not be administered. All other imaging modalities are safe to administer.)
• Impaired kidney function: Glomerular Filtration Rate (GFR) < 30 ml/min/1.73m2 (VASO scan will not be administered due to an association between Gadolinium-based MR contrast use and Nephrogenic Systemic Fibrosis in individuals with severely impaired renal function. All other imaging modalities are safe to administer.)
• History of hypersensitivity to any MRI contrast agent (VASO scan will not be administered. All other imaging modalities are safe to administer.)
Other: Other
Schizophrenia, Aging, Disease Course, Biomarker, Neuroimaging, Cognitive Dysfunction
UT Southwestern
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Subclinical Transthyretin Cardiac Amyloidosis in V122I TTR Carriers

Approximately 1.5 million of the 44 million Blacks in the United States are carriers of the valine-to-isoleucine substitution at position 122 (V122I) in the transthyretin (TTR) protein. Virtually exclusive to Blacks, this is the most common cause of hereditary cardiac amyloidosis (hATTR-CA) worldwide. hATTR-CA leads to worsening heart failure (HF) and premature death. Fortunately, new therapies that stabilize TTR improve morbidity and mortality in hATTR-CA, especially when prescribed early in the disease. However, hATTR-CA is often diagnosed at an advanced stage and conventional diagnostic tools lack diagnostic specificity to detect early disease. The overall objectives of this study are to determine the presence of subclinical hATTR-CA and to identify biomarkers that indicate amyloid progression in V122I TTR carriers. The central hypothesis of this proposal is that hATTR-CA has a long latency period that will be detected through subclinical amyloidosis imaging and biomarker phenotyping. The central hypothesis will be tested by pursuing 2 specific aims: Aim 1) determine the association of V122I TTR carrier status with CMRI evidence of amyloid infiltration; Sub-aim 1) determine the association of V122I TTR carrier status with cardiac reserve; Aim 2) determine the association between amyloid-specific biomarkers and V122I TTR carrier status; and Sub-aim 2) determine the association of amyloid-specific biomarkers with imaging-based parameters and evaluate their diagnostic utility for identifying subclinical hATTR-CA. In Aim 1, CMRI will be used to compare metrics associated with cardiac amyloid infiltration between a cohort of V122I TTR carriers without HF formed by cascade genetic testing and age-, sex-, and race-matched non-carrier controls. For Sub-Aim 1, a sub-sample of carriers and non-carrier controls enrolled in Aim 1 will undergo novel exercise CMRI to measure and compare cardiac systolic and diastolic reserve. Aim 2 involves measuring and comparing amyloid-specific biomarkers in V122I TTR carriers without HF with samples matched non-carriers (both from Aim 1) and individuals with symptomatic V122I hATTR-CA from our clinical sites. These biomarkers detect and quantify different processes of TTR amyloidogenesis and include circulating TTR, retinol binding protein 4, TTR kinetic stability, and misfolded TTR oligomers. Sub-aim 2 will establish the role of these biomarkers to detect imaging evidence of subclinical hATTR-CA disease.
Call 214-648-5005
studyfinder@utsouthwestern.edu, Carolyn.Kelly@UTSouthwestern.edu
Justin Grodin
74652
All
30 Years to 80 Years old
This study is NOT accepting healthy volunteers
NCT05489549
STU-2022-0404
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(V122I TTR carriers (or matched non-carriers))
Inclusion Criteria:

• Men and women ages 30-80 who are V122I TTR carriers (or matched non-carriers) without history of HF (this will be assessed by study personnel) and defined as: a) No history of hospitalization within the previous 12 months for management of HF; b) Without an elevated B-type natriuretic peptide level ≥100 pg/mL or NT-proBNP ≥360 pg/mL within the previous 12 months; or c) No clinical diagnosis of HF from a treating clinician
• Signed informed consent
Exclusion Criteria:

• A self-reported history or clinical history of HF
• Other known causes of cardiomyopathy
• History of light-chain cardiac amyloidosis
• Prior type 1 myocardial infarction (non-ST segment elevation myocardial Infarction {NSTEMI} or ST-elevation myocardial infarction {STEMI})
• Cardiac transplantation
• Body weight >250 lbs
• Estimated glomerular filtration rate ≤30 mL/min/1.73 m2
• Inability to safely undergo CMRI (For participants with symptomatic V122I hATTR-CA, we will enroll probands with HF from Aim 1 or patients with symptomatic V122I hATTR-CA from the three study sites.)
Inclusion Criteria:

• Men and women ages 30-80 who have symptomatic V122I hATTR-CA as determined by a history of HF (this will be assessed by study personnel) and defined as: a) History of hospitalization within the previous 12 months for management of HF; b) An elevated B-type natriuretic peptide level ≥100 pg/mL or NT-proBNP ≥360 pg/mL within the previous 12 months; or c) A clinical diagnosis of HF from a treating clinician.
• Have an established diagnosis of hATTR-CA based on either a) Biopsy confirmed by Congo red (or equivalent) staining with tissue typing with immunohistochemistry or mass spectrometric analysis or immunoelectron microscopy, OR b) positive technetium-99m (99mTc)-pyrophosphate or -bisphosphonate scan, combined with accepted laboratory criteria without abnormal M-protein.
• TTR gene sequencing confirming the V122I variant
• Signed informed consent
Exclusion Criteria:

• Other known causes of cardiomyopathy
• History of light-chain cardiac amyloidosis
• Cardiac transplantation
• Liver transplantation
• Previous Treatment with a TTR stabilizer (tafamidis, acoramidis) or TTR silencer (inotersen, patisiran, eplontersen)
• Estimated glomerular filtration rate ≤30 mL/min/1.73 m2
Amyloidosis, Hereditary, Cardiovascular, Transthyretin-Related (ATTR) Familial Amyloid Cardiomyopathy, Amyloidosis Cardiac, Amyloidosis, Familial, Transthyretin Gene Mutation
Amyloidosis, Transthyretin Amyloidosis, V122I TTR, p.Val142Ile TTR, Cardiac magnetic resonance imaging
UT Southwestern
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Late Onset Alzheimer's Disease (LOAD)

The goal of this study is to is to focus on the genetic influences on Alzheimer's Disease (AD) risk. The investigators are looking for families and/or individuals (affected or unaffected) of any ethic background (African American, Caucasian, and Hispanics) with a family history of AD and willing to participate.
Call 214-648-5005
studyfinder@utsouthwestern.edu, MARIBEL.NUNEZ@UTSouthwestern.edu
Ihab Hajjar
215372
All
55 Years and over
This study is also accepting healthy volunteers
NCT05010603
STU 082012-046
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Inclusion Criteria:

• Established diagnosis of definite or probable AD or have a diagnosis of a related neurodegenerative disorder such as Frontotemporal Dementia (FTD) or Lewy Body Dementia (LBD) (will also recruit sporadic FTD and LBD) cases.
• a living sibling with probable or possible AD;
• a third living relative affected with AD (onset age 50 or older) or unaffected (60 or older);
• participants in the proband's generation with an identified companion serving as an informant;
• participants who have capacity to consent or participants lacking capacity to consent with a surrogate/proxy in place to provide consent.
Exclusion Criteria:

• failure to identify an appropriate informant;
• uncertainty of the clinical diagnosis of Alzheimer's disease or other related disorder;
• discovery of additional diagnosis that could account for the clinical manifestations;
• unwillingness to participate;
• failure to identify a living sibling with AD or other related disorder (except in the cases of sporadic FTD and sporadic LBD);
• participants lacking the capacity to consent who do not have a surrogate or proxy or next of kin to provide consent.
Genetic: Blood Draw, Other: Late Onset Alzheimer's Disease (LOAD) Neuropsychological Battery Test
Alzheimer Disease
Genetic testing, Genetic influence
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