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12 Study Matches

A Dose-finding Study to Evaluate mRNA-3210 in Participants With Phenylketonuria

The main goal of this study is to assess the safety, and tolerability of multiple doses of mRNA-3210 in participants with phenylketonuria (PKU).

Call 214-648-5005
studyfinder@utsouthwestern.edu, Juana.Luevano@UTSouthwestern.edu

Markey McNutt
59152
All
18 Years to 70 Years old
Phase 1/Phase 2
This study is NOT accepting healthy volunteers
NCT06147856
STU-2023-1133
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Inclusion Criteria:

• Confirmed diagnosis of PKU due to phenylalanine hydroxylase (PAH) deficiency by molecular genetic testing from a central lab.
• At least 3 blood phenylalanine levels ≥600 micromole(μmol)/Litre (L) regardless of diet: 2 obtained during the screening period (at least 72 hours apart) and at least one historical value 6 to 24 months prior to start of screening.
• Have received documented approval from a study dietitian confirming that participant is willing and able to maintain dietary protein intake consistent with baseline intake during study participation.
• If applicable, maintained stable dose of neuropsychiatric medication (that is, for attention deficit hyperactivity disorder (ADHD), depression, anxiety, or other psychiatric disorders) prior to enrollment and willing to maintain stable dose throughout study participation unless, per investigator assessment, a change is clinically indicated.
Exclusion Criteria:

• Receipt of sapropterin or large-neutral amino acids within 14 days or 5 half-lives (whichever is longer) of the start of screening.
• Receipt of pegvaliase within 2 months of start of screening.
• For participants previously on pegvaliase: use or planned use of any injectable drugs containing polyethylene glycol (PEG), including medroxyprogesterone injection, within 3 months prior to the start of screening and during study participation with the exception of COVID-19 vaccinations.
• Receipt of any investigational drug within 30 days or 5-half-lives (whichever is longer) of screening.
• History of hypersensitivity to any component/excipient used in this study.
• Any other clinically significant medical condition that, in the Investigator's opinion, could interfere with the interpretation of study results or limit the participant's participation in the study Note: Other protocol-defined inclusion/exclusion criteria apply.
Drug: mRNA-3210
Phenylketonuria
mRNA-3210, Autosomal recessive genetic disorder, Central Nervous System Diseases, Nervous System Diseases, Brain Diseases, Metabolic Diseases, Phenylketonuria, In-born errors of metabolism, Phenylalanine, Rare metabolic disease
UT Southwestern
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A Long-term, Post-marketing Safety Study of Palynziq in Patients With PKU (PALace) (PALace)

This is a 10-year multi-center, global, observational study to further characterize the safety profile of pegvaliase, including hypersensitivity reactions, long-term safety and tolerability, and the effectiveness of the additional risk minimization measures (aRMMs) (European Union (EU) only) in subjects receiving pegvaliase for the treatment of PKU. Subjects for whom a clinical decision has been made that they will receive pegvaliase to treat their PKU within 30 days following the date of enrollment (incident-users) or have previously started treatment with pegvaliase at the date of enrollment (prevalent-users) are eligible for participation in this study.

Call 214-648-5005
studyfinder@utsouthwestern.edu, Juana.Luevano@UTSouthwestern.edu

Markey McNutt
59152
All
Not specified
This study is NOT accepting healthy volunteers
NCT05813678
STU-2023-0263
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Inclusion Criteria:

• Documented diagnosis of PKU per local standard of care
• Currently receiving or planned to receive pegvaliase treatment within 30 days after the date of enrollment, including subjects who previously received pegvaliase as part of the clinical development program and have completed study participation.
• Subject (or legally authorized representative) is willing and able to provide written informed consent after the nature of the study has been explained and prior to any data collection.
Exclusion Criteria:

• Subject has any kind of disorder that, in the opinion of the investigator, may compromise the ability of the subject to give written informed consent and/or comply with any aspect of the study.
• Currently participating in an interventional study of any investigational product, device, or procedure
• Previously enrolled in this study (eg, subjects who have been withdrawn from the study and wish to participate again at a later date)
• German subjects <16 years if age
Drug: Pegvaliase
Other Endocrine System, Phenylketonuria (PKU)
Observational, Safety Study, Pegvaliase, Palynziq, PKU, Phenylketonuria, Phase 4
UT Southwestern; Children’s Health
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First-in-Human, Multiple Part Clinical Study of JNT-517 in Healthy Participants and in Participants With Phenylketonuria

The goal of Parts A and B of this Phase 1, first-in-human, randomized study is to assess the safety, tolerability, and pharmacokinetics (PK) of single (SAD) and multiple (MAD) ascending doses of oral JNT-517 in healthy participants. In Part C, the goal is to evaluate the differences in bioavailability between a tablet and suspension formulation of JNT-517 and the food effect in healthy volunteers. All participants in Part C will receive JNT-517. The goal of Part D is to assess the safety, tolerability, PK, and effect on urinary Phe and other amino acids of JNT-517 in participants with phenylketonuria (PKU). Participants in Part D will receive either JNT-517 or placebo and will be blinded to their treatment assignment. The study consists of 4 parts: - Part A: SAD in healthy participants -randomized, double-blind, placebo-controlled - Part B: MAD in healthy participants (14 days)-randomized, double-blind, placebo-controlled - Part C: Relative bioavailability of 2 formulations and food effect in healthy participants-randomized, open-label - Part D: Phase 1b in participants with PKU (4 weeks)-randomized, double-blind, placebo-controlled In each part, participants will complete a Screening Period, a Treatment Period, and a Follow-up Period for safety.

Call 214-648-5005
studyfinder@utsouthwestern.edu, Juana.Luevano@UTSouthwestern.edu

Markey McNutt
59152
All
18 Years to 65 Years old
Phase 1
This study is also accepting healthy volunteers
NCT05781399
STU-2023-0090
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Key
Inclusion Criteria:
Parts A, B, and C:
• Males and females 18 to 55 years of age.
• Medically healthy with no clinically significant medical history.
• Body mass index (BMI) of 18-40 kg/m2 and total body weight >50 kg (110 lbs).
• Non-smoker for at least 2 weeks prior to dosing and willing to abstain during the study. Part D:
• Males and females 18 to 65 years of age, inclusive.
• Diagnosis of PKU with a confirmed genotype.
• At least 2 plasma Phe levels >600 μM over the past 12 months.
• BMI of 18-40 kg/m2. All Parts:
• Females of childbearing potential must agree to use 2 highly effective contraceptive methods.
• Capable of giving signed informed consent and able to comply with study procedures. Key
Exclusion Criteria:
All Parts:
• Any acute or chronic medical condition that would prevent the participant from complying with the procedures or place the participant at risk if they participate in the study.
• Positive for hepatitis B or C or human immunodeficiency virus.
• Any history of malignancy in the last 5 years, excluding non-melanoma skin cancer.
• Any history of liver disease.
• Any surgical or medical conditions that may affect study drug absorption, distribution, metabolism, or excretion.
• Participation in another investigational drug trial within 30 days or, if known, 5 half-lives of the investigational drug (whichever is longer).
• History of drug/alcohol abuse in the last year.
• Current, recent, or suspected infection within 4 weeks of Screening of SARS-CoV-2/COVID-19.
• Received a vaccine for SARS-CoV-2/COVID-19 within 14 days of Screening.
• Unable to tolerate oral medication.
• Allergy to JNT-517 or any component of the investigational product.
• Received >50 mL of blood or plasma within 30 days of Screening or >500 mL of blood or plasma within 60 days of Screening.
Drug: JNT-517 Suspension, Drug: Placebo Suspension, Drug: JNT-517 Tablet, Drug: Placebo Tablet
Other Endocrine System, Phenylketonuria
PKU
UT Southwestern
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Phase 1/2 Study of AOC 1020 in Adults With Facioscapulohumeral Muscular Dystrophy (FSHD) (FORTITUDE)

A Randomized, Double-blind, Placebo-controlled, Phase 1/2 Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Exploratory Efficacy of AOC 1020 Administered Intravenously to Adult Participants with Facioscapulohumeral Muscular Dystrophy (FSHD)

Call 214-648-5005
studyfinder@utsouthwestern.edu, Tara.Kristof@UTSouthwestern.edu

Jaya Trivedi
46764
All
18 Years to 65 Years old
Phase 1/Phase 2
This study is NOT accepting healthy volunteers
NCT05747924
STU-2022-1177
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Inclusion Criteria:

• FSHD1 or FSHD2 diagnosis confirmed by documented genetic testing (testing provided by Sponsor)
• Ambulatory and able to walk 10 meters (with or without assistive devices such as one cane, walking stick or braces)
• At least 1 muscle region suitable for biopsy (testing provided by Sponsor)
• Muscle weakness in both upper and lower body, as determined by Investigator
Exclusion Criteria:

• Diagnosed with congenital or infantile FSHD
• Pregnancy, intent to become pregnant within 9 months after last planned dose of Study Drug, or active breastfeeding
• Unwilling or unable to continue to comply with contraceptive requirements
• Body mass index (BMI) >35.0 kg/m2 at Screening
• History of muscle biopsy within 30 days of the screening biopsy or planning to undergo any nonstudy muscle biopsies over the duration of the study
• History of bleeding disorders, significant keloid, or other skin or muscle conditions (e.g., severe muscle wasting) that, in the opinion of the Investigator, makes the participant unsuitable for serial muscle biopsy
• Anticipated survival less than 2 years
• Blood or plasma donation within 16 weeks of Study Day 1
• Any contraindication to MRI
• Any abnormal lab values, conditions or diseases that, in the opinion of the investigator or Sponsor, would make the participant unsuitable for the study or could interfere with participation or completion of the study
• Treatment with any investigative medication within 1 month (or 5 half-lives of the drug, whichever is longer) of Screening
Drug: AOC 1020, Drug: Placebo
Muscular Dystrophies, FSHD, FSHD1, FSHD2, FMD, FMD2, Fascioscapulohumeral Muscular Dystrophy, Fascioscapulohumeral Muscular Dystrophy Type 1, Fascioscapulohumeral Muscular Dystrophy Type 2, Dystrophies, Facioscapulohumeral Muscular, Dystrophy, Facioscapulohumeral Muscular, Facioscapulohumeral Muscular Dystrophy 1, Facioscapulohumeral Muscular Dystrophy 2, Facio-Scapulo-Humeral Dystrophy, Atrophy, Facioscapulohumeral, Atrophies, Facioscapulohumeral, Facioscapulohumeral Atrophy, Muscular Dystrophy, Facioscapulohumeral, FSH Muscular Dystrophy, Landouzy Dejerine Dystrophy, Landouzy-Dejerine Muscular Dystrophy, Dystrophies, Landouzy-Dejerine, Dystrophy, Landouzy-Dejerine, Landouzy-Dejerine Syndrome, Muscular Dystrophy, Landouzy Dejerine, Progressive Muscular Dystrophy, FSH
FORTITUDE, Avidity, Avidity Biosciences, AOC 1020
UT Southwestern
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Melpida: Recombinant Adeno-associated Virus (Serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt)

MELPIDA is proposed for the treatment of subjects with SPG50 and targets neuronal cells to deliver a fully functional human AP4M1 cDNA copy via intrathecal injection to counter the associated neuronal loss. Outcomes will evaluate the safety and tolerability of a single dose of MELPIDA, which will be measured by the treatment-associated adverse events (AEs) and serious adverse events (SAEs). Secondarily, the trial will explore efficacy in terms of disease burden assessments.

Call 214-648-5005
studyfinder@utsouthwestern.edu, Kristy.Riddle@UTSouthwestern.edu

Susan Iannaccone
13463
All
1 Year to 10 Years old
Phase 1/Phase 2
This study is NOT accepting healthy volunteers
NCT05518188
STU-2022-0886
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Inclusion Criteria:

• Age 1-10 years old
• Confirmed diagnosis of SPG50 disease by:
• Genomic DNA mutation analysis demonstrating homozygous or compound heterozygous, confirmed pathogenic variants in the AP4M1 gene
• Clinical history or examination features consistent with SPG50 and that include neurologic dysfunction
• Parent/legal guardian willing to provide written informed consent for their child prior to participation in the study
• Subject able to comply with all protocol requirements and procedures
• Ability to stand for more than 5 seconds OR
• Ability to take 5 steps independently or with a walker OR
• Modified Ashworth Scale score 2 or below (Ankles).
Exclusion Criteria:

• Inability to participate in study procedures (as determined by the site investigator)
• Presence of a concomitant medical condition that precludes lumbar puncture (LP) or use of anesthetics
• History of bleeding disorder or any other medical condition or circumstance in which lumbar puncture is contraindicated according to local institutional policy
• Inability to be safely sedated in the opinion of the clinical anesthesiologist
• Active infection, at the time of dosing, based on clinical observations
• Concomitant illness or requirement for chronic drug treatment that in the opinion of the PI creates unnecessary risks for gene transfer
• Inability of the patient to undergo MRI according to local institutional policy
• Inability of the patient to undergo any other procedure required in this study
• The presence of significant non-SPG50 related CNS impairment or behavioral disturbances that would confound the scientific rigor or interpretation of results of the study
• Have received an investigational drug within 30 days prior to screening or plan to receive an investigational drug (other than gene therapy) during the study.
• Enrollment and participation in another interventional clinical trial
• Contraindication to MELPIDA or any of its ingredients
• Contraindication to any of the immune suppression medications used in this study
• Clinically significant abnormal laboratory values (GGT, ALT, and AST, or total bilirubin > 3 × ULN, creatinine ≥ 1.5 mg/dL, hemoglobin [Hgb] < 6 or > 20 g/dL; white blood cell [WBC] > 20,000 per cmm) prior to gene replacement therapy.
Biological: MELPIDA
Spasticity, Muscle, Microcephaly, Intellectual Deficiency, Growth Retardation, SPG50, Spastic Paraplegia
Children’s Health
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A Study to Evaluate the Efficacy and Safety of Mitapivat in Pediatric Participants With Pyruvate Kinase Deficiency (PKD) Who Are Not Regularly Transfused, Followed by a 5-Year Extension Period (ACTIVATE-Kids)

Study ACTIVATE-Kids (AG348-C-023) will evaluate the efficacy and safety of orally administered mitapivat as compared with placebo in pediatric participants with pyruvate kinase deficiency (PKD) who are not regularly receiving blood transfusions. Participants will be randomized 2:1 to receive either mitapivat or matching placebo. Randomization will be stratified by age (1 to < 6 years, 6 to < 12 years, 12 to < 18 years). Participants will be dosed by age and weight during a double-blind period consisting of an 8-week dose titration period followed by a 12-week fixed-dose period. Participants who complete the double-blind period will be eligible to receive mitapivat for up to 5 years in the open-label extension (OLE) period.

Call 214-648-5005
studyfinder@utsouthwestern.edu, Laurie.Rodgers-Augustyniak@childrens.com

Kathryn Dickerson
156007
All
1 Year to 17 Years old
Phase 3
This study is NOT accepting healthy volunteers
NCT05175105
STU-2022-0452
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Inclusion Criteria:

• Written informed consent from the participant, or the participant's legally authorized representative, parent(s), or legal guardian, and the participant's assent, where applicable (informed consent/assent) must be obtained before any study-related procedures are conducted, and participants must be willing to comply with all study procedures for the duration of the study;
• Aged 1 to <18 years. Participants between 12 and 24 months of age must weigh a minimum of 7 kilograms (kg);
• Clinical laboratory confirmation of pyruvate kinase deficiency (PKD), defined as documented presence of at least 2 mutant alleles in the pyruvate kinase L/R (PKLR) gene, of which at least 1 is a missense mutation, as determined per the genotyping performed by the study central genotyping laboratory;
• No more than 5 red blood cell (RBC) transfusions in the 52-week period before providing informed consent/assent and no RBC transfusions ≤12 weeks before administration of the first dose of study drug;
• Hemoglobin concentration ≤10 grams per deciliter (g/dL) for participants 12 to <18 years of age or ≤9 g/dL for participants 1 to <12 years of age during the screening period. Hb concentration must be based on an average of at least 2 Hb concentration measurements (separated by ≥7 days) collected during the screening period;
• Receiving folic acid supplementation as part of routine clinical care for at least 21 days before administration of the first dose of study drug, to be continued during study participation;
• Female participants who have attained menarche and/or breast development in Tanner Stage 2 must be abstinent of sexual activities that may induce pregnancy as part of their usual lifestyle, or agree to use 2 forms of contraception, 1 of which must be considered highly effective, from the time of informed consent/assent, throughout the study, and for 28 days after the last dose of study drug (including the time required to dose taper). The second form of contraception can include an acceptable barrier method.
Exclusion Criteria:

• Pregnant or breastfeeding;
• Homozygous for the R479H mutation or have 2 nonmissense mutations, without the presence of another missense mutation, in the PKLR gene as determined per the genotyping performed by the study central genotyping laboratory;
• History of malignancy;
• History of active and/or uncontrolled cardiac or pulmonary disease or clinically relevant QT prolongation within 6 months before providing informed consent/assent;
• Hepatobiliary disorders including, but not limited to:
• Liver disease with histopathological evidence of cirrhosis or severe fibrosis;
• Clinically symptomatic cholelithiasis or cholecystitis (participants with prior cholecystectomy are eligible);
• History of drug-induced cholestatic hepatitis;
• Aspartate aminotransferase >2.5×upper limit of normal (ULN) (unless due to hemolysis and/or hepatic iron deposition) and alanine aminotransferase >2.5×ULN (unless due to hepatic iron deposition);
• Renal dysfunction as defined by an estimated glomerular filtration rate <60 milliliters per minute (mL/min)/1.73 m^2;
• Nonfasting triglycerides >440 milligrams per deciliter (mg/dL) (5 millimoles per liter [mmol/L]);
• Active uncontrolled infection requiring systemic antimicrobial therapy;
• Participants with known active hepatitis B or hepatitis C virus infection;
• Participants with known human immunodeficiency virus (HIV) infection;
• History of major surgery (including splenectomy) ≤6 months before providing informed consent/assent and/or planning on undergoing a major surgical procedure during the screening or double-blind period;
• Current enrollment or past participation (within 90 days before the first dose of study drug or a time frame equivalent to 5 half-lives of the investigational study drug, whichever is longer) in any other clinical study involving an investigational study drug or device;
• Prior exposure to gene therapy, or bone marrow or stem cell transplantation;
• Currently receiving hematopoietic stimulating agents; the last dose must have been administered at least 28 days or a time frame equivalent to 5 half-lives (whichever is longer) before randomization;
• Receiving products that are strong inhibitors of CYP3A4/5 that have not been stopped for ≥5 days or a time frame equivalent to 5 half-lives (whichever is longer), or strong inducers of CYP3A4 that have not been stopped for ≥28 days or a time frame equivalent to 5 half-lives (whichever is longer), before randomization;
• Receiving anabolic steroids, including testosterone preparations, that have not been stopped for at least 28 days before randomization;
• Known allergy, or other contraindication, to mitapivat or its excipients (microcrystalline cellulose, croscarmellose sodium, sodium stearyl fumarate, mannitol, Opadry® II Blue [hypromellose, titanium dioxide, lactose monohydrate, triacetin, and Food, Drug, and Cosmetics blue dye number 2 (FD&C Blue #2)], Opadry® II White [hypromellose, titanium dioxide, lactose monohydrate, and triacetin], and magnesium stearate);
• Any medical, hematologic, psychological, or behavioral condition(s) or prior or current therapy that, in the opinion of the Investigator, may confer an unacceptable risk to participating in the study and/or could confound the interpretation of the study data; also included are:
• Participants who are institutionalized by regulatory or court order.
• Participants with any condition(s) that could create undue influence (including but not limited to incarceration, involuntary psychiatric confinement, and financial or familial affiliation with the Investigator or Sponsor).
• Receiving a pyruvate kinase activator that has not been stopped for ≥52 weeks before providing informed consent/assent.
Drug: Mitapivat, Drug: Mitapivat-matching placebo
Pediatric Pyruvate Kinase Deficiency, Pediatric Hemolytic Anemia
Anemia, Hematologic Diseases, Metabolic Diseases, Mitapivat, AG-348, ACTIVATE-Kids, PK Deficiency
Children’s Health
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A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy (HOPE-3)

HOPE-3 is a multi-center, randomized, double-blind, placebo-controlled clinical trial evaluating the safety and efficacy of a cell therapy called CAP-1002 in study participants with Duchenne muscular dystrophy (DMD) and impaired skeletal muscle function. Non-ambulatory and ambulatory boys and young men who meet eligibility criteria will be randomly assigned to receive either CAP-1002 or placebo every 3 months for a total of 4 doses during a 12-month period. All participants will be eligible to receive CAP-1002 for an additional 12 months as part of an open label extended assessment period.

Call 214-648-5005
studyfinder@utsouthwestern.edu, Tammy.Ramm@UTSouthwestern.edu

Susan Iannaccone
13463
Male
10 Years and over
Phase 3
This study is NOT accepting healthy volunteers
NCT05126758
STU-2022-0124
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Inclusion Criteria:

• Male subjects at least 10 years of age at time of consent who are willing and able to provide informed consent to participate in the trial and diagnosed with DMD as confirmed by the Investigator
• Genetically confirmed DMD
• Performance of the Upper Limb test (PUL) entry item scores 2-6 and total PUL score less than or equal to 40. Enrollment of patients with PUL entry score 6, Exon 44 skipping amenable, and/or Exon 3 through 7 deletions will be capped at no more than 10% of the total study population.
• Reduced ability to walk/run (if ambulatory): subjects must take more than 10 seconds for the 10-meter walk/run (i.e., velocity < 1 meter/second)
• If non-ambulatory, loss of independent ambulation between 10th and 18th year birthday
• Treatment with systemic glucocorticoids for at least 12 months and at a stable dose at least 6 months prior to study participation, except for weight-based or toxicity-related adjustments
• Current and up-to-date immunizations
• Adequate venous access for parenteral IP infusions and routine blood collection
• Assessed by the Investigator as willing and able to comply with the requirements of the trial
• Sexually active subjects and their partners who are fertile must agree to use effective method(s) of contraception
Exclusion Criteria:

• Left ventricular ejection fraction (LVEF) less than or equal to 35% prior to randomization
• Elbow-flexion contractures > 30° in both extremities
• Body mass index (BMI) > 45
• Percent predicted forced vital capacity (FVC%) < 35% within 6 months prior to randomization
• Inability to perform consistent PUL 2.0 measurement within ± 2 points without shoulder domain or within ± 3 points with shoulder domain during paired testing at screening
• Risk of near-term respiratory decompensation in the judgment of the Investigator, or the need for initiation of day and night non-invasive ventilator support as defined by serum bicarbonate ≥ 29 mmol/L at screening
• History of non DMD-related chronic respiratory disease requiring ongoing or intermittent treatment, including, but not limited to, asthma, bronchitis, and tuberculosis
• Acute respiratory illness within 30 days prior to screening and during screening
• Initiation of nocturnal non-invasive ventilation within 30 days prior to screening
• Planned or anticipated thoracic or spinal surgery within the 6 months following randomization
• Planned or anticipated lower extremity surgery within the 6 months following randomization, if ambulatory
• Known hypersensitivity to dimethyl sulfoxide (DMSO) or bovine products
• Initiation of treatment with metformin or insulin within 3 months prior to randomization
• Initiation of treatment with an FDA-approved exon skipping therapy for the treatment of DMD and/or non-weight based adjustments within 12 months prior to randomization
• Treatment with human growth hormone within 3 months prior to randomization, unless on a stable dose allowing for weight-based dose adjustments (as determined by the site Investigator) for at least 24 months prior to randomization
• Treatment with a cell therapy product within 12 months prior to randomization; any prior exposure to CAP-1002 will be excluded
• Treatment with an investigational product within 6 months prior to randomization
• History, or current use, of drugs or alcohol that could impair the ability to comply with participation in the trial
• Inability to comply with the investigational plan and follow-up visit schedule for any reason, in the judgment of the investigator
• Inability to undergo a cardiac MRI
Biological: CAP-1002, Drug: Placebo
Muscular Dystrophy, Duchenne, Muscular Dystrophies, Muscular Disorders, Atrophic, Muscular Diseases, Neuromuscular Diseases, Nervous System Diseases, Genetic Diseases, X-Linked, Genetic Diseases, Inborn
Duchenne Muscular Dystrophy, Cell Therapy, Performance of the Upper Limb, Ambulatory, Non-Ambulatory
Children’s Health
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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, Tara.Kristof@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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Study Assessing the Efficacy, Safety and PK of Alpelisib (BYL719) in Pediatric and Adult Patients With PIK3CA-related Overgrowth Spectrum (EPIK-P2)

This is a prospective Phase II multi-center study with an upfront 16-week, randomized, double-blind, placebo-controlled period, and extension periods, to assess the efficacy, safety and pharmacokinetics of alpelisib in pediatric and adult participants with PIK3CA-related overgrowth spectrum (PROS).

Call 214-648-5005
studyfinder@utsouthwestern.edu, Caitlyn.Ambrose@childrens.com

Kathleen Ludwig
114894
All
2 Years and over
Phase 2
This study is NOT accepting healthy volunteers
NCT04589650
STU-2021-0306
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Inclusion Criteria:

• Signed informed consent and assent (when applicable) from the patient, parent, legal authorized representative or guardian prior to any study related screening procedures are performed
• Patients with diagnosis of PROS with symptomatic and /or progressive overgrowth and at least one measurable PROS-related lesion confirmed by blinded independent review committee (BIRC) assessment
• Documented evidence of a somatic mutation(s) in the PIK3CA gene performed in local laboratories
• A tissue sample (fresh or archival) is be sent to a Novartis-designated central laboratory. If archival tissue is not available, collection of a fresh tissue biopsy is required for participants in Groups 1, 2 and 5, if it is not clinically contraindicated. For participants in Groups 3 and 4, a fresh tissue biopsy is not mandatory. For China only: Tissue sample collection and biomarker assessments are not applicable. For Germany only: If archival tissue is available, it must be sent to a Novartis designated central laboratory. If no archival tissue is available, obtaining a fresh tissue biopsy is recommended, if it is not clinically contraindicated, but is not mandatory.
• Karnofsky (in patients > 16 years old at study entry)/Lansky (≤16 yrs of age at study entry) performance status index ≥50
• Adequate bone marrow and organ function including Fasting plasma glucose (FPG) ≤ 140 mg/dL (7.7 mmol/L) and Glycosylated hemoglobin (HbA1c) ≤ 6.5% (both criteria have to be met) (as assessed by central laboratory for eligibility)
• Presence of at least one PROS-related measurable lesion defined as a lesion with longest diameter ≥2 cm, when the volume can be accurately and reproducibly measured by MRI (Magnetic resonance imaging), and associated with complaints, clinical symptoms or functional limitations affecting the patient's everyday life. Measurability must be confirmed by BIRC before randomization.
Exclusion Criteria:

• Participant with only isolated macrodactyly, skin nevus/nevi and macroencephaly (the only clinical feature or a combination of any of three of them), in absence of other PROS-related lesions at the time of informed consent
• Previous treatment with alpelisib and/or any other PI3K inhibitor(s) (except treatment attempt, defined as the attempt to treat PROS with any of PI3K inhibitors, with treatment duration less than 2 weeks and stopped at least 4 weeks prior to the first dose of study medication with alpelisib)
• Radiation exposure for PROS treatment purpose within the previous 12 months on those PROS areas which are expected to qualify for target lesions (except lesion(s) progressing after completion of radiotherapy) at time of informed consent.
• Debulking or other major surgery performed within 3 months at time of informed consent
• Clinically meaningful PROS-related thrombotic event (Grade 2 and more as per CTCAE v.4.03) within 30 days before informed consent, and/or sclerotherapy/embolization for vascular complications performed within 6 weeks before informed consent. Note: Participants receiving anticoagulants for PROS-related coagulopathy, primary or secondary prophylaxis of thrombosis may be included in the study
• Participants in Groups 1, 2 ad 5 with documented pneumonitis or interstitial lung disease at time of informed consent and with impaired lung function (e.g., FEV1 or DLCO ≤ 70% of predicted) that is not related to PROS. Participants in Groups 3 and 4 with documented or suspicious pneumonitis or interstitial lung disease based on MRI images at time of informed consent
• History of acute pancreatitis within 1 year before informed consent or past medical history of chronic pancreatitis at time of informed consent
• Participants with an established diagnosis of type I diabetes mellitus or uncontrolled type II diabetes mellitus at time of informed consent
• Known history of seizure, or epilepsy, regardless of relatedness to PROS spectrum at time of informed consent, when epilepsy is not controlled and/or the patient may not be switched to non-enzyme inducing antiepileptic drug(s) at time of informed consent.
• Participants with clinically significant worsening of PROS-related laboratory anomalies, physical signs and symptoms (such as, but not limited to increase of D-dimers, worsening of underlying pain, newly occurring swelling or redness) indicating an uncontrolled condition during the screening phase, particularly if systemic treatment with any other inhibitor of the PI3K/AKT/mTOR pathway was stopped prior to the start of study treatment. This includes but is not limited to hypercoagulability state in participants not receiving prophylactic treatment. Other inclusion/exclusion criteria may apply
Drug: Alpelisib, Drug: Placebo
Other, PIK3CA-Related Overgrowth Spectrum (PROS)
PIK3CA-related overgrowth spectrum (PROS), Alpelisib, BYL719, Adult, Pediatric, Phase II
Children’s Health
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A Phase I/II Study of VTX-801 in Adult Patients With Wilson's Disease (GATEWAY)

The objectives of this clinical trial are to assess, for up to 5 years, the safety, tolerability and pharmacological activity of a single ascending doses of VTX-801, a gene therapy, administered intravenously (IV) to adult patients with Wilson's Disease prior to and following background WD therapy withdrawal.

Call 214-648-5005
studyfinder@utsouthwestern.edu, NAHID.ATTAR@UTSouthwestern.edu

William Lee
14217
All
18 Years to 65 Years old
Phase 1/Phase 2
This study is NOT accepting healthy volunteers
NCT04537377
STU-2022-0533
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Main
Inclusion Criteria:

• Male or female aged 18 and 65 years inclusive
• Confirmed diagnosis of WD
• Treated for WD according to international recommendations with no current evidence for inadequate treatment
• Stable WD for ≥ 1 year, defined as: (i) No significant change in neurologic examination and in status of mood disorder and (ii) Stable laboratory parameters used to assess copper metabolism Main
Exclusion Criteria:

• ALT level ≥ 2 ULN that is not readily explained by extrinsic factors
• Total bilirubin > 1.5 x ULN in the absence of proven Gilbert's syndrome; in case of Gilbert's syndrome, direct bilirubin > ULN
• INR > 1.2
• Any signs of liver cirrhosis decompensation, including gastrointestinal bleed within 6 months (24 weeks) prior to screening/enrollment visit
• Patient has moderate or severe renal impairment defined as eGFR CKD-EPI < 60 mL/min/1.73 m2, or patient has nephritis or nephrotic syndrome
• Any history or current evidence of HIV-1, HIV-2, HTLV 1, or HTLV-2 infection
• Any history or current evidence of hepatitis B infection
• Any history of hepatitis C infection, unless previous viral RNA assays in two samples, collected at least 6 months apart, are negative
• Positive QuantiFERON®-TB Gold tuberculosis test result
• Any concomitant disorder/condition - including hepatic disorders - or treatment possibly interfering with the conduct or evaluation of the study
• Any history of diabetes
• Pregnancy or breastfeeding
• Body Mass Index ≥ 35 kg/m2 Other protocol defined Inclusion/ Exclusion criteria may apply
Genetic: VTX-801
Wilson's Disease
UT Southwestern
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A Study of the Natural History of Participants With LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, and LGMD2A/R1 ≥ 4 Years of Age, Who Are Managed in Routine Clinical Practice

This study will follow participants who are screened and confirmed with a genetic diagnosis of Limb-girdle muscular dystrophy type 2E (LGMD2E/R4), Limb-girdle muscular dystrophy type 2D (LGMD2D/R3), Limb-girdle muscular dystrophy type 2C (LGMD2C/R5), or Limb-girdle muscular dystrophy type 2A (LGMD2A/R1). These enrolled participants will be followed to evaluate mobility and pulmonary function for up to 3 years after enrollment. Additional participant data will be collected from the time the individual began experiencing LGMD symptoms to the present.

Call 214-648-5005
studyfinder@utsouthwestern.edu, Alyssa.Boudreau@UTSouthwestern.edu

Kaitlin Batley
162753
All
4 Years and over
This study is NOT accepting healthy volunteers
NCT04475926
STU-2020-0865
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Inclusion Criteria:

• Male or female participant ≥ 4 years of age with confirmed genetic diagnosis of LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, or LGMD2A/R1.
Exclusion Criteria:

• Demonstrates cognitive delay or impairment that could confound motor development, in the opinion of the Investigator.
• Has a medical condition, in the opinion of the Investigator, that might compromise participants ability to comply with study requirements.
• Is participating in other interventional study(ies) at the time of enrollment in this study.
Limb-girdle Muscular Dystrophy
North Star Assessment for Dysferlinopathy (NSAD), Performance of Upper Limb (PUL), Pulmonary function tests (PFTs), Ambulatory, Non-Ambulatory, Limb-girdle, LGMD, sarcoglycanopathy, β -sarcoglycan, Muscular Dystrophy, α -sarcoglycan, γ -sarcoglycan, LGMD-2D/R3, LGMD-2E/R4, LGMD-2C/R5, LGMD2A/R1, Clinical Outcomes Assessment
UT Southwestern; Children’s Health
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Lysosomal Acid Lipase (LAL) Deficiency Registry (ALX-LALD-501)

This is an observational, multi-center, international disease registry designed to collect longitudinal data and create a knowledge base that will be utilized to improve the care and treatment of patients with LAL Deficiency. Participation in the Registry by both physicians and patients is voluntary.

Call 214-648-5005
studyfinder@utsouthwestern.edu, Lisa.Quirk@UTSouthwestern.edu

Thomas Kerr
23175
All
Not specified
This study is NOT accepting healthy volunteers
NCT01633489
STU-2020-1403
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Patients must have a confirmed diagnosis of LAL Deficiency. An Informed Consent and Authorization must be obtained prior to patient enrollment where required under applicable laws and regulations, or a waiver must be obtained by the Institutional Review Board/Independent Ethics Committee. Patients cannot be currently participating in an Alexion-sponsored clinical trial. Patients who have concluded participation in an Alexion-sponsored sebelipase alfa clinical trial are eligible to enroll in this Registry, and enrollment in the Registry will not exclude a patient from enrolling in a future clinical trial.
Lysosomal Acid Lipase Deficiency, Cholesterol Ester Storage Disease, Wolman Disease, Acid Cholesteryl Ester Hydrolase Deficiency, Type 2, Acid Lipase Deficiency, LIPA Deficiency, LAL-Deficiency
UT Southwestern
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