Clinical trials: Genetic Diseases
Fabry Disease
Replagal Enzyme Replacement Therapy for Children With Fabry Disease
Primary Objective(s): To assess the safety of Replagal at a dose of 0.2 mg/kg administered over 40 (+/-10) minutes in children with Fabry disease To assess the effect of Replagal on heart rate variability in patients 7 to 17…
- Trial name
- NCT00084084
- Testing
- Agalsidase alfa
- Where
- 14 sites in United States, Canada
- Volunteers
- 17 people
- Sponsor
- Shire
Turner Syndrome, Renal Insufficiency, Chronic
Study to Define Optimal IGF-1 Monitoring in Children Treated With NutropinAq
The main purpose of this study is to establish an optimal monitoring regimen in NutropinAq treated children, using newly developed capillary blood spot IGF-1 measurement technology.
- Conditions
- Turner Syndrome, Renal Insufficiency, Chronic, Pituitary Diseases, Dwarfism
- Trial name
- OPTIMA (NCT00234533)
- Testing
- Somatropin (rDNA origin)
- Where
- 45 sites in Belgium, Czechia and 12 more
- Volunteers
- 251 people
- Sponsor
- Ipsen
Wilson's Disease
International Wilson's Disease Patient Registry (iWilson Registry)
Longitudinal, observational, non-interventional, standard of care Registry. Data will be collected from the routinely scheduled WD clinic visits at approximately 6-12 month intervals.
- Trial name
- NCT05239858
- Where
- 16 sites in Belgium, France and 5 more
- Volunteers
- 500 people
- Sponsor
- Orphalan
Hypertension, Angina Pectoris
Amlodipine/Atorvastatin (Caduet®) Drug Use Investigation (Regulatory Post Marketing Commitment Plan)
In this survey, to collect the safety and efficacy information of Amlodipine /Atorvastatin (Caduet® Combination Tablets) in daily medical practice will be examined.
- Conditions
- Hypertension, Angina Pectoris, Hypercholesterolemia, Familial Hypercholesterolemia
- Trial name
- NCT01107743
- Testing
- Amlodipine/Atorvastatin
- Volunteers
- 1,291 people
- Sponsor
- Pfizer's Upjohn has merged with Mylan to form Viatris Inc.
Huntington Disease
Wearable Sensors for Quantitative Assessment of Motor Impairment in Huntington's Disease Huntington's Disease
The principal means of measuring motor impairment in Huntington disease (HD) is the Unified Huntington's Disease Rating Scale (UHDRS) total motor score, which is subjective, categorical, requires significant training to…
- Trial name
- NCT03599076
- Testing
- HD Wear
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- BioSensics
Von Hippel Lindau Disease
MSD Belzutifan PAS
This is a prospective observational cohort study evaluating the effectiveness and safety of belzutifan treatment in routine clinical practice.
- Trial name
- NCT06554730
- Testing
- Belzutifan
- Sponsor
- Merck Sharp & Dohme LLC
Atopic Dermatitis (AD)
A Phase III Clinical Study of QY201 Tablet in Subjects With Moderate to Severe Atopic Dermatitis.
To evaluate the efficacy of QY201 tablets in the treatment of adult patients with moderate to severe atopic dermatitis (AD).
- Trial name
- NCT07180511
- Testing
- 10mg QY201 tablet, 20mg QY201 tablet
- Where
- China
- Volunteers
- 460 people
- Sponsor
- E-nitiate Biopharmaceuticals (Hangzhou) Co., Ltd.
Cystic Fibrosis
A Study of VX-445 in Healthy Subjects and Subjects With Cystic Fibrosis
This is a first-in-human and proof-of-concept study of VX-445. The study includes 6 parts. Parts A, B, and C were conducted in healthy subjects.
- Trial name
- NCT03227471
- Testing
- IVA, TEZ/IVA, VX-445
- Where
- 38 sites in United States, Australia and 2 more
- Volunteers
- 225 people, healthy volunteers welcome
- Sponsor
- Vertex Pharmaceuticals Incorporated
Retinitis Pigmentosa
Safety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa
The primary objective of the study is to assess the safety of repeat injection of human retinal progenitor cells (jCell) in adult subjects with RP that have previously been treated with jCell.
- Trial name
- NCT04604899
- Testing
- human retinal progenitor cells
- Where
- 3 sites in United States
- Volunteers
- 30 people
- Sponsor
- jCyte, Inc
Thyroid Eye Disease
A Study of IBI311 in Subjects With Active Thyroid Eye Disease
This is a multicenter, randomized, double-masked, placebo-controlled Phase II/III study in subjects with active thyroid eye disease.
- Trial name
- NCT05795621
- Testing
- IBI311
- Where
- China
- Volunteers
- 115 people
- Sponsor
- Innovent Biologics (Suzhou) Co. Ltd.
Cystic Fibrosis, Exocrine Pancreatic Insufficiency
Study of Pancreatic Enzyme Product in Pediatric Participants With Cystic Fibrosis and Exocrine Pancreatic Insufficiency
This is an open-label study to evaluate the efficacy and safety of Aptalis' (formerly Eurand) pancreatic enzyme product (PEP) microtabs in pediatric participants under age 7 with cystic fibrosis (CF) and exocrine pancreatic…
- Trial name
- NCT00981214
- Testing
- EUR-1008 (APT-1008)
- Where
- 14 sites in United States
- Volunteers
- 19 people
- Sponsor
- Forest Laboratories
Haemophilia A
Efficacy and Safety of Turoctocog Alfa Pegol (N8-GP) for Prophylaxis and Treatment of Bleeding Episodes in Previously Treated Chinese Patients With Haemophilia A (pathfinder10)
The study investigates how well the medicine called turoctocog alfa pegol (N8-GP) works in previously treated Chinese patients with severe haemophilia A. Participants will be treated with N8-GP.
- Trial name
- Pathfinder10 (NCT05082116)
- Testing
- turoctocog alfa pegol (N8-GP)
- Where
- 11 sites in China
- Volunteers
- 36 people
- Sponsor
- Novo Nordisk A/S
Dilated Cardiomyopathy
A Study of AZD4063 in PLN R14del Dilated Cardiomyopathy
The purpose of the study is to assess the safety, tolerability and the pharmacokinetics (PK) of AZD4063 after single dose administration in participants with phospholamban (PLN) R14del dilated cardiomyopathy.
- Trial name
- PULSE (NCT07241104)
- Testing
- AZD4063
- Where
- 4 sites in Netherlands
- Volunteers
- 23 people
- Sponsor
- AstraZeneca
Fabry Disease
A 24-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease
Study to evaluate the safety, tolerability, and pharmacodynamics of migalastat hydrochloride (HCl) (migalastat) in participants with Fabry disease.
- Trial name
- NCT00283933
- Testing
- migalastat HCl
- Where
- 2 sites in France, United Kingdom
- Volunteers
- 5 people
- Sponsor
- Amicus Therapeutics
Cystic Fibrosis
Long Term Administration of Inhaled Mannitol in Cystic Fibrosis
The purpose of this study is to examine the efficacy and safety of 26 weeks treatment with inhaled mannitol in subjects with cystic fibrosis.
- Trial name
- NCT00630812
- Testing
- inhaled mannitol
- Where
- 53 sites in United States, Argentina and 5 more
- Volunteers
- 318 people
- Sponsor
- Syntara
Epidermolysis Bullosa
Open Label Extension Study to Evaluate the Long-term Safety of Zorblisa (SD-101-6.0) in Patients With Epidermolysis Bullosa
The study aimed to assess the long-term safety of topical use of Zorblisa (SD-101-6.0) in participants with Epidermolysis Bullosa (EB).
- Trial name
- NCT02670330
- Testing
- SD-101-6.0 cream
- Where
- 30 sites in United States, Australia and 10 more
- Volunteers
- 152 people
- Sponsor
- Scioderm, Inc.
Congenital Bleeding Disorder, Haemophilia A
A Single Dose Trial of Recombinant Factor VIII (N8) in Japanese Subjects With Haemophilia A: An Extension to Trial NN7008-3543
This trial is conducted in Japan. The aim of this clinical trial is to investigate the pharmacokinetics (the effect of the investigated drug on the body) and safety of turoctocog alfa (recombinant factor VIII (N8)) in Japanese…
- Trial name
- NCT01238367
- Testing
- turoctocog alfa
- Where
- 6 sites in Japan
- Volunteers
- 6 people
- Sponsor
- Novo Nordisk A/S
Duchenne Muscular Dystrophy (DMD)
An Open-label Long-term Follow-up Study of SAT-3247 for Participants With Duchenne Muscular Dystrophy Including Those Who Participated in SAT-3247-CL-101
This is an open-label long-term safety and efficacy study of orally administered SAT-3247 in patients with DMD including those who previously participated in SAT-3247-CL-101.
- Trial name
- NCT06867107
- Testing
- SAT-3247
- Where
- 6 sites in United States, Australia
- Volunteers
- 30 people
- Sponsor
- Satellos Bioscience, Inc.
Pachyonychia Congenita
Topical Sirolimus for the Treatment of Pachyonychia Congenita (PC)
A study to evaluate safety and efficacy of topical sirolimus to treat plantar keratoderma in adults with PC. Subjects may receive either placebo or treatment with at least 1 foot receiving topical sirolimus at some time.
- Trial name
- NCT02152007
- Testing
- 1% sirolimus cream (TD201 1%)
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- TransDerm, Inc.
Homozygous Familial Hypercholesterolemia
Evaluate the Long-Term Safety and Efficacy of Evinacumab in Patients With Homozygous Familial Hypercholesterolemia
The primary objectives of the study are: To evaluate the long-term safety and tolerability of evinacumab in patients with Homozygous Familial Hypercholesterolemia (HoFH) To evaluate the long-term safety and tolerability of…
- Trial name
- NCT03409744
- Testing
- evinacumab
- Where
- 38 sites in United States, Australia and 10 more
- Volunteers
- 116 people
- Sponsor
- Regeneron Pharmaceuticals
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