Here are the studies that match your search criteria. If you are interested in participating, please reach out to the contact listed for the study. If no contact is listed, contact us and we'll help you find the right person.
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.
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
Minimal change disease (MCD), focal segmental glomerulosclerosis (FSGS), and Membranous
nephropathy (MN), generate an enormous individual and societal financial burden, accounting
for approximately 12% of prevalent end stage renal disease (ESRD) cases (2005) at an annual
cost in the US of more than $3 billion. However, the clinical classification of these
diseases is widely believed to be inadequate by the scientific community. Given the poor
understanding of MCD/FSGS and MN biology, it is not surprising that the available therapies
are imperfect. The therapies lack a clear biological basis, and as many families have
experienced, they are often not beneficial, and in fact may be significantly toxic. Given
these observations, it is essential that research be conducted that address these serious
obstacles to effectively caring for patients.
In response to a request for applications by the National Institutes of Health, Office of
Rare Diseases (NIH, ORD) for the creation of Rare Disease Clinical Research Consortia, a
number of affiliated universities joined together with The NephCure Foundation the NIDDK,
the ORDR, and the University of Michigan in collaboration towards the establishment of a
Nephrotic Syndrome (NS) Rare Diseases Clinical Research Consortium.
Through this consortium the investigators hope to understand the fundamental biology of
these rare diseases and aim to bank long-term observational data and corresponding
biological specimens for researchers to access and further enrich.
Patients presenting with an incipient clinical diagnosis for FSGS/MCD or MN or pediatric
participants not previously biopsied, with a clinical diagnosis for FSGS/MCD or MN meeting
the following inclusion criteria:
• Documented urinary protein excretion ≥1500 mg/24 hours or spot protein: creatinine
ratio equivalent at the time of diagnosis or within 3 months of the
screening/eligibility visit.
• Scheduled renal biopsy
Cohort B (non-biopsy, cNEPTUNE)
Inclusion Criteria:
• Age <19 years of age
• Initial presentation with <30 days immunosuppression therapy
• Proteinuria/nephrotic
• UA>2+ and edema OR
• UA>2+ and serum albumin <3 OR
• UPC > 2g/g and serum albumin <3
Exclusion Criteria (Cohort A&B):
• Prior solid organ transplant
• A clinical diagnosis of glomerulopathy without diagnostic renal biopsy
• Clinical, serological or histological evidence of systemic lupus erythematosus (SLE)
as defined by the ARA criteria. Patients with membranous in combination with SLE will
be excluded because this entity is well defined within the International Society of
Nephrology/Renal Pathology Society categories of lupus nephritis, and frequently
overlaps with other classification categories of SLE nephritis (68)
• Clinical or histological evidence of other renal diseases (Alport, Nail Patella,
Diabetic Nephropathy, IgA-nephritis, monoclonal gammopathy (multiple myelomas),
genito-urinary malformations with vesico-urethral reflux or renal dysplasia)
• Known systemic disease diagnosis at time of enrollment with a life expectancy less
than 6 months
• Unwillingness or inability to give a comprehensive informed consent
• Unwillingness to comply with study procedures and visit schedule
• Institutionalized individuals (e.g., prisoners)
Multicenter Trial of Congenital Pulmonic Valve Dysfunction Studying the SAPIEN 3 THV With the Alterra Adaptive Prestent (ALTERRA)
To demonstrate the safety and functionality of the Edwards Alterra Adaptive Prestent in
conjunction with the Edwards SAPIEN 3 Transcatheter Heart Valve (THV) System in patients with
a dysfunctional right ventricular outflow tract/pulmonary valve (RVOT/PV) who are indicated
for treatment of pulmonary regurgitation (PR).
1. The patient/patient's legally authorized representative has been informed of the
nature of the study, agrees to its provisions and has provided written informed
consent.
2. Pediatric or adult patent whose weight is ≥ 20 kg (44 lbs).
3. The patient has a dysfunctional RVOT/PV.
4. RVOT/PV proximal and distal landing zone diameter ≥ 27 mm and ≤ 38 mm and/or minimum
of 35 mm from contractile tissue to lowest pulmonary artery takeoff immediately prior
to Alterra Prestent insertion.
Exclusion Criteria:
1. Active infection requiring current antibiotic therapy (if temporary illness, patient
may be a candidate 2 weeks after discontinuation of antibiotics).
2. History of or active endocarditis (active treatment with antibiotics) within the past
180 days.
3. Leukopenia (WBC < 2000 cells/μL), anemia (Hgb < 7 g/dL), thrombocytopenia (platelets <
50,000 cells/μL) or any known blood clotting disorder.
4. Inappropriate anatomy for introduction and delivery of the Alterra Adaptive Prestent
or the SAPIEN 3 THV.
Device: Edwards Alterra Adaptive Prestent with SAPIEN 3 THV
The RAD study is a longitudinal study to prospectively characterize the biological mechanisms
of resilience in adolescents and young adults at risk for developing depression. The study
will capture biomarkers from the domains of socio-demographic and clinical data, cognitive
and psychological assessments, fluid-based biomarkers, neuroimaging and EEG. Such biomarkers
will compose a human biosignature of resilience and identify risk factors for depression,
contributing to effective treatment selection or may represent moderators of response or
non-response to treatments in subjects with depression. A cohort of 1,500 participants, age
10-24 will be recruited over a 5 year period. Participants will be followed for 10 years
following an initial baseline visit. Study visits are conducted 4 times per year.
• Adolescents and young adults aged 10-24, male and female of all races and ethnicity.
• Participants must be English-speaking (because several study assessments are only
available in the English language), however the parent(s) or legal guardian may either
speak English or Spanish as the consenting process can be conducted bilingually.
• Adults age 18 and older must be able to provide written informed consent; for youth
younger than age 18, a parent or legal guardian must provide written informed consent,
and the child or teen must provide written informed assent.
• Ability to complete clinical evaluations and neuropsychological testing.
Exclusion Criteria:
• Individuals who are unable to provide informed consent.
• Participants who are non-English speaking.
• Individuals with any of the following psychotic features: MDD with psychotic features,
schizophrenia, schizoaffective disorder, or other Axis I psychotic disorder.
• Individuals with a depression diagnosis or a history of depression diagnosis at the
initial visit (participants who develop depression during the longitudinal follow-up
will continue in the study).
• A PHQ-9 score of 10 or greater.
• Individuals who are unable to provide a permanent home address and contact
information.
• Individuals with any condition for which, in the opinion of the investigator, study
participation would not be in their best interest (e.g., compromise their well-being)
or that could prevent, limit, or confound the protocol-specified assessments.
Asthma is a chronic inflammatory airway disease that leads to episodic symptom exacerbations,
which exerts a substantial burden on quality of life and can influence other health domains
if not adequately controlled. Asthma prevalence rates have increased in the past decade,
affecting 8.4% (25.7 million people) of the United States population. The economic costs of
asthma have been estimated annually with $56 billion in the US alone. Despite progress in
pharmacological treatment, overall asthma control remains unsatisfactory and treatment
non-adherence is extremely high. Asthma is particularly under diagnosed and understudied in
aging adults. This problem will increase in coming decades given demographic trends and will
disproportionally contribute to the societal and personal economic costs associated with
asthma treatment and management. In the proposed 4-year project we will evaluate, in a
two-session assessment recruiting a total of 126 asthma patients and 66 healthy controls aged
40-69 years, the extent to which asthma and aging are associated with changes in cognition
and brain chemistry, structure, and function.
• For asthma patients: diagnosis of asthma (verified by a medical documentation) for at
least 2 years; for healthy volunteers: no significant medical or psychiatric history.
• Ages 40 to 69 years old.
• Proficient in English.
• Education level of at least 10th grade level.
Exclusion Criteria:
• Treatment with oral corticosteroids in the previous 6 weeks, because of the potent
effects of this drug on airway reactivity.
• Spirometry: Peak expiratory flow (PEF) below 60% of predicted.
• Diagnosis of vocal cord dysfunction (identified by abnormalities in spirometric
flow-volume curves), clinically significant chronic obstructive pulmonary disease, or
emphysema.
• Presence or history of medical or neurological disorder that may affect brain function
and the physiological systems of interest (e.g. angina, myocardial infarction,
congestive heart failure, transient ischemic attacks, cerebrovascular accidents,
emphysema, or chronic obstructive pulmonary disease, history of seizures or head
trauma, endocrine disorders or renal disease, chemotherapy or radiation presently or
in the past 5 years, uncontrolled diabetes, blood pressure above 160/90 (self-reported
or measured at session 1).
• Corrected vision poorer than 20/30 on Snellen Eye Chart.
• Presence or history of Schizophrenia, Psychosis, Dementia, Bipolar I, Bipolar II, PTSD
or Acute Stress Disorder
• Current or recent history (within 1 year) of Substance Related Disorders, current
recreational drug use (defined as past 30 days) or consuming more than 20 alcoholic
drinks per week.
• Current treatment with anti-psychotics, sedatives, benzodiazepines with a half-life
longer than 6 hours.
• Previous electroconvulsive therapy.
• Presence of history of orthopaedic circumstances and metallic inserts interfering with
MR scanning (prior surgeries and/or implant pacemakers, pacemaker wires, artificial
heart value, brain aneurysm surgery, middle ear implant, non-removable hearing aid or
jewelry, braces or extensive dental work, cataract surgery or lens implant, implanted
mechanical or electrical device, artificial limb or joint, foreign metallic objects in
the body such as bullets, BB's, shrapnel, or metalwork fragments, pregnancy,
claustrophobia, uncontrollable shaking, or inability to lie still for one hour.
• Not proficient in English.
• In the opinion of the principal investigator, participant is otherwise unsuitable for
this study.
Other: Functional and Structural Magnetic Resonance Imaging (research grade), Other: Cognitive Function Testing (non-diagnostic), Other: Asthma and Psychological Questionnaires (non-diagnostic)
The purpose of this research study is to create a clinical database and bio-repository. To do
this, we will obtain blood, urine, and stool samples (e.g., biological samples) and personal
health information from you to use in future research studies related to alcoholic hepatitis
or other diseases. Part of your blood sample will be used to extract your DNA. DNA is the
genetic material that gives us unique characteristics. We are doing this research study
because we are trying to find out more about how and why illnesses related to alcoholic
hepatitis or other diseases occur in people. To do this, we will study the biological samples
and personal health information from healthy and sick people.
A "biological sample" is usually blood, but can be any body fluid. "Personal Health
Information" includes such items as your name, age, gender, race, and/or your medical
information. It can also include data from measurements and tests that you had while
participating in another research study or that were done during the course of your regular
medical care or doctor visits.
CASES: Heavy drinkers with alcoholic hepatitis Inclusion criteria
1. A clinical diagnosis of alcoholic hepatitis
2. Serum total bilirubin >3 mg/dL
3. Subject or guardian ability to understand and willingness to provide written consent
4. Age greater or equal to 21 years
5. Re-enrolment of an alcoholic hepatitis donor is permissible up to 4 times if the donor
presents with a new episode of alcoholic hepatitis 24 weeks or longer after the most
recent enrolment in the study
Exclusion criteria
1. Liver disease significantly caused by hemochromatosis, autoimmune liver disease,
Wilson disease, NAFLD, and acute viral hepatitis
2. (NOTE: The presence of chronic hepatitis C, hepatitis B, or HIV is not exclusion to
participation.)Pregnant or breast feeding Based on the judgment of the investigator,
subject is not capable of understanding or complying with the study requirements.
CONTROLS: Heavy drinkers without significant liver disease Inclusion criteria
1. History of chronic alcohol consumption sufficient to cause liver damage. Generally,
this is considered to be >40 g/day or >280g/week on average for women and >60 g/day or
>420 g/week on average for men, for many years (usually decades). Judgement about
chronic alcohol consumption will be made by the site investigator.
2. Subject or guardian ability to understand and willingness to provide written consent
3. Age greater or equal to 21 years
Exclusion criteria
1. Past evidence of alcoholic liver disease, defined as a bilirubin > 2.0 mg/dL, an AST >
1.5 ULN, and any hospital admission for liver disease, or the presence of esophageal
varices or ascites (at any time in the past).
2. Liver disease significantly caused by hemochromatosis, autoimmune liver disease,
Wilson disease, NAFLD, and acute viral hepatitis (NOTE: The presence of chronic
hepatitis C, hepatitis B, or HIV is not exclusion to participation.)
3. Alcohol intake at less than 40 g/day or 280g/week on average for women and 60 g/day or
420 g/week on average for men for longer than the past 28 days
4. If liver stiffness has been assessed within the prior 90 days, then stiffness
suggesting fibrosis of F1 or greater is excluded. For Fibroscan, this is a fibrosis
score >7.0 kPa.
5. Pregnant or breast feeding
6. Any of the following laboratory abnormalities within 90 days prior to signing the
consent.
1. Total bilirubin: >ULN*
2. INR: > 1.4 5 *Individuals with a diagnosis of Gilbert's can have total bilirubin
up to 3.0 mg/dL and still be eligible for participation.
Healthy Controls
Inclusion criteria
1. AUDIT-C scores of <4 for men and <3 for women (signifying no alcohol misuse)
2. Abstinent (consumption of less than one standard drink/week) during the 6 months prior
to enrolment
3. Ability to understand and willingness to provide written consent.
Exclusion criteria
1. Clinical history or laboratory evidence of liver disease including alcoholic liver
disease, NAFLD, hemochromatosis, alcoholic hepatitis, autoimmune liver disease, Wilson
disease, hepatitis C, or hepatitis B.
2. Presence of diabetes (requiring treatment with oral agents or insulin).
3. Significant heart disease (prior history of heart disease, other than hypertension)
4. Chronic lung disease (requiring chronic treatment)
5. Immune related conditions (such as Crohn's disease, rheumatoid arthritis, ulcerative
colitis, systemic lupus erythematosus, severe psoriasis, etc.)
6. Known infection with HIV
7. Presumed infection, or use of antibiotics or other medications (e.g., corticosteroids)
that would affect immune function, within the past 14 days
8. BMI>35
9. Current or known history of cancer (except in situ carcinoma of the cervix or
adequately treated basal or squamous cell carcinoma of the skin) within 5 years prior
to enrollment
10. Pregnant or breast feeding
11. Any of the following laboratory abnormalities within 90 days prior to signing the
consent.
1. Hemoglobin: <10 g/dL
2. Conjugated bilirubin: > ULN
3. INR: > 1.4
4. AST: >40 IU/mL
5. ALT: >40 IU/mL
12. Based on the judgment of the investigator, subject is not capable of complying with
the study requirements
Alcoholic Hepatitis, Liver
UT Southwestern; Parkland Health & Hospital System
Cryopreserved vs. Lyopreserved Stravix as an Adjunct to NPWT in the Treatment of Complex Wounds
This study is a prospective, 2-arm parallel assignment, randomized clinical trial to compare
lyopreserved vs cryopreserved Stravix as an adjunct therapy to NPWT.
• Diagnosis of a diabetes mellitus
• Men/women ≥21 years old
• Post-operative foot or ankle wounds sized >4cm2 that have presented for <1 year
• ABI ≥0.5 or toe pressures >30 mmHg
• Wounds indicated for treatment with NPWT
Exclusion Criteria:
• Active Charcot arthropy
• Unable to use NPWT at home
• Untreated bone or soft tissue infection
• Is pregnant or plans to become pregnant
• Is nursing or actively lactating
• Developmental disability/significant psychological disorder that in the opinion of the
investigator could impair the subject's ability to provide informed consent,
participate in the study protocol or record study measures, including untreated
schizophrenia, bipolar disorder and psychiatric hospitalization within the last 2
years.
• Active alcohol or substance abuse in the opinion of the investigator that could impair
the subject's ability to provide informed consent, participate in the study protocol
or record study materials
Device: NPWT and lyopreserved Stravix, Device: NPWT and cryopreserved Stravix
Diabetic Wound
UT Southwestern; Parkland Health & Hospital System
Youth Depression and Suicide Research Network (YDSRN)
The objective of this study is to build the Texas Youth Depression and Suicide Research
Network to support the development of a Network Participant Registry and characterization of
systems and interventions to examine statewide population health outcomes. All 12-13 sites
represented in the Texas Child Mental Health Care Consortium
(https://www.utsystem.edu/pophealth/tcmhcc/) have been invited to participate in the Texas
Youth Depression and Suicide Research Network as "Nodes." 12 Nodes have been selected for
this project. Each Node has obtained support of senior institutional leadership including the
department chair. Leadership from each Node provided input and edits in the study design
process by committee, with a focus on the inclusion of the "end user" in design decisions.
Nodes will work closely with the Network Hub leadership to recruit, monitor, and retain
participants. This will require active engagement and sustained relationships with clinics
within the academic medical center as well as clinics in the community (i.e., psychiatry,
psychology, counselling).
1. Be 8 to 20 years of age;
2. Have a positive screen for depression (e.g., based on PHQ-2 (score ≥3) and/or PHQ-A of
10 or greater, OR positive for suicidal ideation or behavior (e.g., based on CHRT-SR
or PHQ-A item 9); OR be in treatment for depression;
3. Be willing to provide consent/assent (parents/LAR/guardian or young adult participant,
aged 18-20, must be willing to provide consent; youth, aged 8-17, must be willing to
provide assent);
4. Be able to speak English or Spanish sufficiently to understand the study procedures
and provide written informed consent to participate in the study;
5. Be willing to dedicate appropriate time to complete scheduled study assessments and
measures (both parent/LAR/guardian and youth).
6. Be able to provide a reliable means of contact.
Exclusion Criteria:
1. Have an acute medical or psychological condition(s) that that would, in the judgment
of the study medical clinician, make participation difficult or unsafe;
2. Have an acute medical or psychological condition(s) that would result in an inability
to accurately complete study requirements (e.g., neurological conditions or
significant neurodevelopmental concerns);
3. Have active psychotic symptoms resulting in altered mental status and inability to
provide assent or requiring immediate attention and/or higher level of intervention;
4. Have a parent/LAR/guardian who is deemed cognitively unable to provide consent (if
youth participant, aged 8-17).
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.
• 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.
• Ages 8 to ≤ 21 years
• Participant must be able to speak and understand English
• Be willing to participate and able to comply with the study protocol
• For participants with PE: Children with acute, radiologically confirmed pulmonary
embolism (PE) with our without DVT
• For control group: Children who are prescribed physical activity restrictions for 2 up
to 12 weeks following any minor outpatient surgery or, minor injury (surgery or injury
is referred to as "diagnosis" hereafter)
Exclusion Criteria:
• Congenital heart disease with abnormal pulmonary circulation or with in-situ pulmonary
artery thrombosis
• Chronic kidney disease
• Chronic inflammatory or an autoimmune disorder (such as systemic lupus erythematosus,
juvenile rheumatoid disorder, inflammatory bowel disease, and sickle cell disease)
• A metabolic or endocrinological disorder such as diabetes mellitus or thyroid disorder
• History of or active cancer
• Pregnant
• Musculoskeletal limitations to exercise expected to be present uptil 4 months
post-diagnosis
• Weight ≥ 300 lbs
• Contraindications to magnetic resonance imaging
• Frequent severe exacerbations of asthma defined by two or more bursts of systemic
glucocorticoids (more than three days each) in the previous year or at least one
hospitalization, intensive care unit stay or mechanical ventilation in the previous
year. Patients should also be excluded if there are daily symptoms of asthma requiring
daily use of short-acting bronchodilators such as albuterol or levalbuterol
administration. The use of controller medications such as daily inhaled
corticosteroids for mild persistent asthma is not exclusionary.
• Has any other medical condition, which in the opinion of the investigator may
potentially compromise the safety or compliance of the patient or may preclude the
patient's successful completion of the clinical study
Additional exclusion criteria for participants with PE:
• Prior history of DVT or PE (upper extremity, cerebral sinus venous thrombosis and
abdominal thromboses encountered as a neonate are not exclusion criteria)
• Lack of anticoagulant treatment for the acute VTE due to contraindications
Transanastomotic Tube for Proximal Esophageal Atresia With Distal Tracheoesophageal Fistula Repair (TEF)
This trial will compare the effectiveness of two common surgical practices for Type C
esophageal atresia repair: esophageal atresia (EA) with distal tracheoesophageal fistula
(TEF). Infants with EA/TEF requiring surgical intervention will be recruited. Subjects will
be randomized to either repair with or without transanstomotic tube (TT) during esophageal
anastomosis creation. Primary outcome is symptomatic anastomotic stricture development
requiring dilation within 12 months.
• Infants diagnosed with type C esophageal atresia: proximal esophageal atresia and
distal tracheoesophageal fistula
• Primary repair of the esophageal atresia within the first six months of life
• Minimum follow up of 1 year (12 months)
Exclusion Criteria:
• Other types of esophageal atresia without esophageal anastomosis creation
• Major anomaly that influences likelihood of developing primary outcome or affects
surgical treatment considerations
Device: Transanastomotic Tube (5FR), Other: No Transanastomotic Tube
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.
• 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)
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.
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.
The purposes of this project are 1) to compare the impact of maternal obesity versus
excessive gestational weight gain on obstructive sleep apnea (OSA) in obese and non-obese
women; 2) to investigate the mechanism(s) by which obesity and OSA increase cardiovascular
risk during pregnancy; and 3) to identify biomarker(s) for obesity-related OSA in pregnant
women.
• Both obese and non-obese (normal weight) early pregnant women aged ≥18 years old will
be permitted to participate in this project.
• No restriction with respect to race and socioeconomic status
• Women with a prior history of complicated pregnancy (i.e., gestational hypertension,
preeclampsia, HELLP syndrome, gestational diabetes, preterm birth, intrauterine growth
restriction, etc.) will be allowed to participate.
• Obese women with previously diagnosed OSA will be allowed to participate if they are
not currently on any recognized treatments such as Continuous Positive Airway Pressure
(CPAP), oral appliances or nasal expiratory positive airway pressure.
• Those who have had surgery for OSA in the past will be excluded.
• Women taking low-dose aspirin will be allowed to participate in this project.
Exclusion Criteria:
• Current multiple pregnancy;
• Known major fetal chromosomal or anatomical abnormalities;
• Recurrent miscarriage (three or more);
• Chronic essential hypertension (systolic BP >140 mmHg and/or diastolic BP >90 mmHg);
• Any evidence of cardiovascular and pulmonary diseases by history or by physical
examination;
• Kidney disease (serum creatinine >1.5 mg/dL);
• Coagulation disorders;
• Diabetes mellitus (fasting glucose ≥126 mg/dL or 2-hour oral glucose tolerance test
glucose level ≥200 mg/dL) or other systemic illness;
• Any evidence of neurological disease;
• Psychiatric disease or psychological disorders;
• History of drug or alcohol abuse within the last 2 years; and
• Given the effects of exercise training on sympathetic neural control,
endurance-trained athletes will be excluded. As this project focuses on sleep apnea in
pregnancy, Women with other significant sleep disorders such as restless legs syndrome
by Rest Leg Syndrome Diagnostic Index and insomnia by the Insomnia Severity Index or
Pittsburgh Sleep Quality Index will be excluded; In addition, women who report taking
a sleeping aid >1 time per month will be excluded.
Morphea in Adults and Children (MAC) Cohort Study: A Morphea Registry and DNA Repository (MAC)
The Morphea in Adults and Children (MAC) cohort is the first registry for both children and
adults with morphea (also known as localized scleroderma) in the country. The purpose of the
registry is to learn more about morphea, specifically:
- How morphea behaves over time
- How frequently specific problems occur along with morphea (for example, arthritis)
- Whether morphea has an autoimmune background
1. Patient must have a clinical diagnosis of morphea confirmed by the primary
investigator and by histopathological examination.
2. Ages 0-90 years old
3. Children must weigh more than 20 lbs. in order to satisfy Children's Medical Center
policy for the maximum amount of blood drawn in a 24 hour period.
4. Patient or legal guardian must be able to speak and read at a 6th grade reading level.
5. Both male and female patients will be eligible
6. All races and ethnic backgrounds will be included
7. Relationships to proband: All patients with morphea will be included. A patient's
family history will be reviewed and if there is a family history of morphea or
systemic sclerosis then we will give the study patient the investigator's contact
information and ask the family member to call the study team to answer any questions
and enroll them in the study if they choose to do so.
8. Ability to give informed consent: Patients must be able to give informed consent or
they will give assent with parent or guardian consent as a minor to be a part of the
morphea registry.
Exclusion Criteria:
•Patients who have been coded as morphea (701.0), but do not have morphea/localized
scleroderma (examples: steroid atrophy, acquired keratoderma, keloids, nephrogenic
fibrosing dermopathy, systemic sclerosis, lichen sclerosis)
Other: Morphea
Scleroderma, Localized, Morphea, Scleroderma, Circumscribed, Frontal Linear Scleroderma en Coup de Sabre, Scleroderma, Linear, Other Skin
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.
• 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
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).
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.
This is a prospective, multi-center, observational study. Subjects will have OmniGraf™
(TruGraf® and TRAC™) testing at study enrollment and thereafter every 3 months. In addition
subjects will have OmniGraf™ (TruGraf® and TRAC™) testing at any time there is a clinical
suspicion of acute rejection. Data collection for the primary objective extends over a 2-year
period.
• Written informed consent and HIPAA authorization;
• At least 18 years of age;
• Recipient of a primary or subsequent deceased-donor or living-donor kidney transplant;
• At least 3-months post-transplant;
• Stable serum creatinine (per Principal Investigator);
• Treated with any immunosuppressive regimen, and;
• Selected by provider to undergo OmniGraf™ (TruGraf® and TRAC™) testing as part of
post-transplant care; and
Exclusion Criteria:
• Recipient of a combined organ transplant with an extra-renal organ and/or islet cell
transplant;
• Recipient of a previous non-renal solid organ and/or islet cell transplant;
• Known to be pregnant;
• Known to be infected with HIV;
• Known to have Active BK nephropathy;
• Known to have nephrotic proteinuria (Per Principal Investigator);
• Participation in other biomarker studies testing clinical utility.
Diagnostic Test: Patients monitored with TruGraf and TRAC testing
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.
• 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.)
Study to Evaluate Biological & Clinical Effects of Significantly Corrected CFTR Function in Infants & Young Children (BEGIN)
This is a two-part, multi-center, prospective longitudinal, exploratory study of highly
effective cystic fibrosis transmembrane conductance regulator (CFTR) modulators and their
impact on children with cystic fibrosis (CF).
• Part A:
• Less than 5 years of age at the first study visit.
• Documentation of a CF diagnosis.
Part B:
• Participated in Part A OR less than 6 years of age at the first study visit.
• Documentation of a CF diagnosis.
• CFTR mutations consistent with FDA labeled indication of highly effective modulator
therapy (ivacaftor or elexacaftor/tezacaftor/ivacaftor).
• Physician intent to prescribe ivacaftor or elexacaftor/tezacaftor/ivacaftor.
Exclusion Criteria:
• Part A and Part B:
Use of an investigational drug within 28 days prior to and including the first study visit.
Use of ivacaftor or elexacaftor/tezacaftor/ivacaftor within the 180 days prior to and
including the first study visit.
Use of chronic oral corticosteroids within the 28 days prior to and including the first
study visit.
Drug: Ivacaftor or elexacaftor/tezacaftor/ivacaftor
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.
• 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
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.
• 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