Clinical trials: Genetic Syndrome
Hemophilia A, Hemophilia B
Treatment Patterns And Outcomes In Patients Treated With Benefix Or Refacto/Refacto AF - A Swedish Cohort Study
The overall aim of the study is to describe demographic and clinical characteristics, treatment patterns and outcomes, in the populations of hemophilia patients treated with BeneFIX and ReFacto/ReFacto AF in Sweden
- Trial name
- NCT02740413
- Volunteers
- 86 people
- Sponsor
- Pfizer
Urea Cycle Disorders
To Evaluate the Safety of Long-term Use of HPN-100 in the Management of Urea Cycle Disorders (UCDs)
This was an open-label, long-term safety study of HPN-100 (RAVICTI; glycerol phenylbutyrate) in participants with a urea cycle disorder (UCD) who completed the safety extensions of HPN-100-005 (NCT00947544; HPN-100-005SE)…
- Trial name
- NCT01257737
- Testing
- HPN-100
- Where
- 16 sites in United States, Canada
- Volunteers
- 88 people
- Sponsor
- Amgen
Irritable Bowel Syndrome Constipation Predominant
Effects of ROSE-010 on GI Transit in Constipation Predominant Irritable Bowel Syndrome (C-IBS) Patients
This trial will study the effects of an investigational (not FDA approved) medication, ROSE-010, on the movement of food through the stomach, small intestine and colon in females with constipation predominant irritable bowel…
- Trial name
- NCT01056107
- Testing
- ROSE-010
- Where
- United States
- Volunteers
- 52 people
- Sponsor
- Mayo Clinic
Dermatitis, Atopic
A Study in Patients With Atopic Eczema to Test How Effective BI 655130 is and How Well it is Tolerated
The primary objective of this trial is to investigate the safety, tolerability and efficacy of BI 655130 in patients with Atopic Dermatitis (AD) following repeated intravenous administrations compared to placebo.
- Trial name
- NCT03822832
- Testing
- BI 655130
- Where
- 23 sites in United States, Canada and 1 more
- Volunteers
- 51 people
- Sponsor
- Boehringer Ingelheim
Atopic Dermatitis
Efficacy and Safety Study of CD2027 Ointment 3 Microgram Per Gram (mcg/g) Twice Daily Treatment for Adults With at Least Moderate Atopic Dermatitis
This was a multi-center, randomized, double-blind, parallel group study. Efficacy Objectives: To evaluate the efficacy of CD2027 ointment 3 mcg/g applied twice daily over 4 weeks versus its vehicle in adult participants with at…
- Trial name
- NCT00919763
- Testing
- CD2027 Ointment 3 mcg/g, twice daily, Vehicle Ointment, twice daily
- Where
- 14 sites in United States
- Volunteers
- 102 people
- Sponsor
- Galderma R&D
Thalassemia Major With Severe Transfusional Iron Overload
Combination Deferasirox and Deferiprone for Severe Iron Overload in Thalassemia
We hypothesize that the combination treatment with deferasirox and deferiprone will be well tolerated and will result in significant improvement in cardiac and liver iron levels.
- Trial name
- NCT01709032
- Testing
- Deferasirox and deferiprone
- Where
- 2 sites in United States
- Volunteers
- 9 people
- Sponsor
- Children's Hospital of Philadelphia
Cystic Fibrosis
Effectiveness of Pulmozyme in Infants With Cystic Fibrosis
This is a study to find out whether Pulmozyme is effective for clearing mucus from the airways of children with cystic fibrosis less than 3 ½ years of age.
- Trial name
- NCT00179998
- Testing
- Recombinant Human DNase (Pulmozyme)
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Nationwide Children's Hospital
Exocrine Pancreatic Insufficiency
Phase 1 Study to Assess Safety and Efficacy of ANG003
Randomized, parallel, active-treatment Phase 1 study of a single dose of orally administered ANG003 with a test meal in adult subjects with cystic fibrosis-related exocrine pancreatic insufficiency.
- Trial name
- NCT06052293
- Testing
- ANG003
- Where
- 20 sites in United States
- Volunteers
- 57 people
- Sponsor
- Anagram Therapeutics, Inc.
Dermatitis, Atopic
A Study for AR100DP1 in Mild to Moderate Atopic Dermatitis (AD)
This is a Phase I/IIa Open-Label, Dose-Escalation Study to Determine the Safety, Tolerability, and Efficacy of AR100DP1 in Health Subjects, and Subjects with Mild to Moderate Atopic Dermatitis.
- Trial name
- NCT04220411
- Testing
- AR100DP1
- Where
- Taiwan
- Volunteers
- 17 people, healthy volunteers welcome
- Sponsor
- Arjil Pharmaceuticals LLC
Hypoleptinemia, Generalized Lipodystrophy
Trial of Leptin Replacement Therapy in Patients With Lipodystrophy
Lipodystrophies represent a therapeutic challenge with regards to insulin resistance, hypertriglyceridemia and fatty liver which often is coupled with significant adipose tissue loss.
- Conditions
- Hypoleptinemia, Generalized Lipodystrophy, Partial Lipodystrophy, Insulin Resistance
- Trial name
- NCT00896298
- Testing
- Leptin
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- University of Texas Southwestern Medical Center
Muscular Dystrophy, Duchenne
A Study of Tadalafil for Duchenne Muscular Dystrophy
The main purpose of this study is to determine if tadalafil can slow the decline in walking ability of boys who have Duchenne muscular dystrophy (DMD).
- Trial name
- NCT01865084
- Testing
- Tadalafil
- Where
- 62 sites in United States, Argentina and 14 more
- Volunteers
- 331 people
- Sponsor
- Eli Lilly and Company
Tuberous Sclerosis Complex
Adjunctive GNX Treatment Compared With Placebo in Children and Adults With TSC-related Epilepsy
This is a Phase 3, global, double-blind, randomized, placebo-controlled study of adjunctive GNX treatment in children and adults with TSC-related epilepsy.
- Trial name
- NCT05323734
- Testing
- Ganaxolone
- Where
- 63 sites in United States, Australia and 8 more
- Volunteers
- 129 people
- Sponsor
- Marinus Pharmaceuticals
Congenital Ichthyosis
A Vehicle Controlled Study to Evaluate Safety and Efficacy of Topical TMB-001 for Treatment of Congenital Ichthyosis
The purpose of this study is to investigate the efficacy and safety of two concentrations of topically applied ointment formulation of isotretinoin called TMB-001 (0.05% and 0.1% isotretinoin) in subjects 9 years of age and older…
- Trial name
- NCT04154293
- Testing
- Isotretinoin, Vehicle
- Where
- 11 sites in United States, Australia
- Volunteers
- 34 people
- Sponsor
- LEO Pharma
Huntington's Disease
Study to Measure Cerebrospinal Fluid Mutant Huntingtin Protein in Participants With Early Manifest Stage I or Stage II Huntington's Disease
The study is designed as a multi-site, prospective, 15-month longitudinal, cohort study measuring CSF mHTT in participants with early manifest Stage I or Stage II Huntington's Disease (HD).
- Trial name
- NCT03664804
- Testing
- No Study Drug was Administered in this Study
- Where
- 15 sites in United States, Canada and 2 more
- Volunteers
- 95 people
- Sponsor
- Hoffmann-La Roche
Glycogen Storage Disease Type IA
A Study of Adeno-Associated Virus Serotype 8-Mediated Gene Transfer of Glucose-6-Phosphatase in Patients With Glycogen Storage Disease Type Ia (GSDIa)
The primary objectives of this study are to evaluate the efficacy of DTX401 to reduce or eliminate dependence on exogenous glucose replacement therapy to maintain euglycemia and to maintain or improve the quality of glucose…
- Trial name
- NCT05139316
- Testing
- DTX401, Oral prednisolone
- Where
- 20 sites in United States, Brazil and 7 more
- Volunteers
- 52 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Phenylketonurias
Evaluation of Phe Fluctuation in PKU Pts Treated With PKU GOLIKE Versus Standard Amino Acid Protein Substitute.
This is a 2 arm, randomised, controlled, cross-over study in 16 children with PKU. Subjects who are currently taking a Phe free/low Phe protein substitute will be recruited for a 31-day trial.
- Trial name
- NCT05487378
- Testing
- PKU GOLIKE
- Where
- United Kingdom
- Volunteers
- 16 people
- Sponsor
- APR Applied Pharma Research s.a.
Hemophilia B, Hemophilia A
A Study to Evaluate Prospective Efficacy and Safety Data of Current FIX Prophylaxis Replacement Therapy in Adult Hemophilia B Subjects (FIX:C≤2%) or Current FVIII Prophylaxis Replacement Therapy in Adult Hemophilia A Subjects (FVIII:C≤1%)
To establish baseline prospective efficacy data of current FIX prophylaxis replacement therapy in the usual care setting of hemophilia B subjects, who are negative for nAb to AAV-Spark100, prior to the Phase 3 gene therapy study.
- Trial name
- NCT03587116
- Testing
- Standard of Care FIX Replacement therapy, Standard of Care FVIII Replacement therapy
- Where
- 75 sites in United States, Australia and 16 more
- Volunteers
- 212 people
- Sponsor
- Pfizer
Hypertriglyceridemia, Hyperlipoproteinemia Type IV
Effect of Rosuvastatin on Triglyceride Levels in Mexican Hypertriglyceridemic Patients
The primary purpose of this trial is to determine if the treatment with rosuvastatin 10 and 20mg/day during 8 weeks in hypertriglyceridemic patients will reduce their triglyceride levels.
- Conditions
- Hypertriglyceridemia, Hyperlipoproteinemia Type IV, Hyperlipoproteinemia Type V, Hyperlipoproteinemia Type IIb
- Trial name
- NCT00473655
- Testing
- rosuvastatin
- Where
- 3 sites in Mexico
- Volunteers
- 334 people
- Sponsor
- AstraZeneca
Hemophilia B
Safety and Dose Finding Study of DTX101 (AAVrh10FIX) in Adults With Moderate/Severe to Severe Hemophilia B
A Phase 1/2, open-label, dose-finding safety study of single ascending doses of DTX101 in adult males with moderate/severe to severe hemophilia B.
- Trial name
- NCT02618915
- Testing
- DTX101
- Where
- 9 sites in United States, Bulgaria and 1 more
- Volunteers
- 6 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Alpha 1-Antitrypsin Deficiency
Study of Fazirsiran (TAK-999, ARO-AAT) in Patients With Alpha-1 Antitrypsin Deficiency Associated Liver Disease (AATD)
The purpose of this study is to evaluate the the safety and efficacy of the investigational product, fazirsiran (TAK-999, ARO-AAT), administered subcutaneously to patients with alpha-1 antitrypsin deficiency associated liver…
- Trial name
- NCT03946449
- Testing
- ARO-AAT
- Where
- 4 sites in Austria, Germany and 1 more
- Volunteers
- 16 people
- Sponsor
- Arrowhead Pharmaceuticals
The first 1,020 results can be paged through. Add a filter or change the sort order to reach the rest.