Found 116 clinical trials
Clinical Study for Treatment-naïve IOPD Babies to Evaluate Efficacy and Safety of ERT With Avalglucosidase Alfa (Baby-COMET)
This is a single group, treatment, Phase 3, open-label study to assess efficacy, safety, pharmacokinetic (PK), pharmacodynamics (PD) of avalglucosidase alfa in treatment-naïve male and female participants with IOPD. Study details include: Study duration: Screening - up to 4 weeks; Primary Analysis Period (PAP) - 52 weeks; Extended Treatment Period …
- 8 views
- 17 Mar, 2023
- 3 locations
Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) DNA and Tissue Bank
Background: DNA tells the body how to grow and function. Williams-Beuren syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) are rare diseases caused by
- 142 views
- 23 Nov, 2020
- 1 location
Rare disease registries for certain lysosomal storage disorders, including, but not limited to, Fabry, Gaucher, MPS I, and Pompe diseases (each, a Registry)
Rare disease registries for certain lysosomal storage disorders, including, but not limited to, Fabry, Gaucher, MPS I, and Pompe diseases (each, a Registry)
- 592 views
- 23 Nov, 2020
- 1 location
Eltrombopag for People With Fanconi Anemia
Fanconi anemia is a genetic disease. Some people with it have reduced blood cell counts. This means their bone marrow no longer works properly. These people may need blood transfusions for anemia (low red blood cells) or low platelet counts or bleeding. Researchers want to see if a new drug …
- 143 views
- 22 Dec, 2020
- 1 location
A Study of FT-4202 in Adults and Adolescents With Sickle Cell Disease (Hibiscus Study)
This clinical trial is a Phase 2/3 study that will evaluate the efficacy and safety of FT-4202 and test how well FT-4202 works compared to placebo to improve the amount of hemoglobin in the blood and to reduce the number of vaso-occlusive crises (times when the blood vessels become blocked …
- 22 views
- 22 Dec, 2021
- 29 locations
Open-label, Single-arm, Multicenter Study to Assess the Safety of Cystadrops® in Pediatric Cystinosis Patients From 6 Months to Less Than 2 Years Old (SCOB2)
Rare Diseases committed to conduct a clinical study to assess Cystadrops® safety and efficacy in the pediatric population from 6 months to less than 2 years old.
- 0 views
- 25 Oct, 2022
- 6 locations
A Phase 1/2 First-in-human, 2-part Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of Single Ascending Doses (Part 1: Open-label) and Repeat Doses (Part 2: Randomized, Double-blind, Placebo-controlled) of UX053 in Patients With GSD III
The primary objective of the study is to evaluate the safety of UX053 in adults with Glycogen Storage Disease Type III (GSD III).
- 3 views
- 17 Oct, 2022
- 6 locations
A Randomized, Double-Blind, Dose Finding and Comparison Study of the Safety and Efficacy of a High Dose of Eteplirsen, Preceded by an Open-label Dose Escalation, in Patients With Duchenne Muscular Dystrophy With Deletion Mutations Amenable to Exon 51 Skipping
This study will be comprised of 2 parts: Part 1 (dose escalation) will be conducted to evaluate the safety and tolerability of 2 doses (100 milligrams/kilogram [mg/kg] and 200 mg/kg) of eteplirsen in approximately 10 participants with DMD; Part 2 (dose finding and dose comparison) will be conducted for the …
- 22 views
- 21 Oct, 2022
- 17 locations
A Study of Nusinersen Among Participants With Spinal Muscular Atrophy Who Received Onasemnogene Abeparvovec (RESPOND)
The primary objective of this study is to evaluate the clinical outcomes following treatment with nusinersen in participants with spinal muscular atrophy (SMA) who previously received onasemnogene abeparvovec. The secondary objectives of this study are to evaluate the safety and tolerability; and clinical outcomes following treatment with nusinersen in participants …
- 2 views
- 07 Oct, 2022
- 20 locations
Phase 3, Multicenter, Open-label Study to Assess the Long-term Safety and Tolerability of Rimegepant for the Acute Treatment of Migraine (With or Without Aura) in Children and Adolescents ≥ 6 to <18 Years of Age.
The purpose of this study is to test the long-term safety of rimegepant in the acute treatment of moderate or severe migraine in children and adolescents (≥ 6 to < 18 years of age).
- 6 views
- 25 Oct, 2022
- 96 locations