Clinical trials: Genetic Diseases
Hemophilia A
Safety and Efficacy Study of a Recombinant and Protein-Free Factor VIII (rAHF-PFM) in Hemophilia A Patients Undergoing Surgery
The purpose of this study is to evaluate whether rAHF-PFM is safe and effective in the treatment of hemophilia A patients undergoing surgery.
- Trial name
- NCT00157105
- Testing
- Antihemophilic factor, recombinant, manufactured protein-free
- Where
- 10 sites in United States
- Volunteers
- 59 people
- Sponsor
- Baxalta now part of Shire
Transfusion Dependent Beta Thalassemia, Hemoglobinopathies
EDIT-301 for Autologous Hematopoietic Stem Cell Transplant (HSCT) in Participants With Transfusion-Dependent Beta Thalassemia (TDT)
The purpose of this study is to evaluate the safety, tolerability, and efficacy of treatment with EDIT-301 in adult participants with Transfusion Dependent beta Thalassemia
- Conditions
- Transfusion Dependent Beta Thalassemia, Hemoglobinopathies, Thalassemia Major, Thalassemia Intermedia
- Trial name
- NCT05444894
- Testing
- EDIT-301
- Where
- 8 sites in United States, Canada
- Volunteers
- 9 people
- Sponsor
- Editas Medicine, Inc.
Gaucher Disease, Type 1 Gaucher Disease
A Long-Term Extension Study of AT2101 (Afegostat Tartrate) in Type 1 Gaucher Patients
This study evaluated the long-term safety and efficacy of afegostat tartrate in participants with Gaucher disease who were enrolled in a previous Phase 2 study of afegostat tartrate.
- Conditions
- Gaucher Disease, Type 1 Gaucher Disease, Gaucher Disease, Type 1
- Trial name
- NCT00813865
- Testing
- afegostat tartrate
- Where
- 4 sites in United States, United Kingdom
- Volunteers
- 8 people
- Sponsor
- Amicus Therapeutics
Huntington Disease
GENERATION HD2. A Study to Evaluate the Safety, Biomarkers, and Efficacy of Tominersen Compared With Placebo in Participants With Prodromal and Early Manifest Huntington's Disease
This study will evaluate the safety, biomarkers, and efficacy of tominersen compared with placebo in participants with prodromal and early manifest Huntington's Disease (HD).
- Trial name
- NCT05686551
- Testing
- Tominersen
- Where
- 70 sites in United States, Argentina and 13 more
- Volunteers
- 301 people
- Sponsor
- Hoffmann-La Roche
Duchenne Muscular Dystrophy
HT-100 Long-term Study in DMD Patients Who Completed HALO-DMD-02
This study, HALO-DMD-03, is a follow-on study to HALO-DMD-01 and HALO-DMD-02, and allows continued open-label access to HT-100 for subjects who have completed these studies.
- Trial name
- NCT02525302
- Testing
- HT-100
- Where
- 5 sites in United States
- Volunteers
- 10 people
- Sponsor
- Akashi Therapeutics
Stargardt, Stargardt's Disease
An Observational Study in Subjects to Follow the Progression of Stargardt Disease Type 1 (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ABCA4 Gene
This is an Observational Study to Follow the Progression of Stargardt Disease Type 1 (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ABCA4 Gene This is a multicenter study which will enroll approximately 75…
- Conditions
- Stargardt, Stargardt's Disease, Stargardt Disease, STGD1
- Trial name
- POLARIS (NCT06435000)
- Where
- 20 sites in United States, Germany and 1 more
- Volunteers
- 75 people
- Sponsor
- Splice Bio
Primary Hypercholesterolemia or Mixed Hyperlipidemia
Study of QLC7401 in the Treatment of Primary Hypercholesterolemia or Mixed Hyperlipidemia With Elevated LDL Cholesterol
To evaluate the efficacy, safety, pharmacodynamics and immunogenicity of QLC7401 subcutaneous administration in patients with primary hypercholesterolemia or mixed hyperlipidemia with poorly controlled LDL-C elevated on optimized…
- Trial name
- NCT06750341
- Testing
- QLC7401
- Volunteers
- 156 people
- Sponsor
- Qilu Pharmaceutical Co., Ltd.
Achondroplasia
A Phase 2 Study of BMN 111 to Evaluate Safety, Tolerability, and Efficacy in Children With Achondroplasia
This is a Phase 2, open-label, sequential cohort dose-escalation study of BMN 111 in children with achondroplasia. The primary objective is to assess the safety and tolerability of daily BMN 111 administered to children with…
- Trial name
- ACH (NCT02055157)
- Testing
- BMN 111
- Where
- 9 sites in United States, Australia and 2 more
- Volunteers
- 35 people
- Sponsor
- BioMarin Pharmaceutical
Congenital Adrenal Hyperplasia
Global Safety and Efficacy Registration Study of Crinecerfont in Pediatric Participants With Classic Congenital Adrenal Hyperplasia (CAHtalyst Pediatric Study)
This is a Phase 3 study to evaluate the efficacy, safety, and tolerability of crinecerfont versus placebo administered for 28 weeks in approximately 81 pediatric participants with classic congenital adrenal hyperplasia (CAH) due…
- Trial name
- NCT04806451
- Testing
- Crinecerfont
- Where
- 46 sites in United States, Belgium and 8 more
- Volunteers
- 103 people
- Sponsor
- Neurocrine Biosciences
Pulmonary Emphysema in Alpha-1 Antitrypsin Deficiency
Long Term Safety of Alpha1-Proteinase Inhibitor in Subjects With Alpha1 Antitrypsin Deficiency
This is a 2-year open-label, multicenter extension of the double-blind, placebo-controlled GTi1201 study. The purpose of this study is to obtain an additional 2 years of safety data for intravenously administered Alpha1-MP 60…
- Trial name
- SPARTA-OLE (NCT02796937)
- Testing
- Alpha-1 MP
- Where
- 28 sites in United States, Australia and 10 more
- Volunteers
- 290 people
- Sponsor
- Grifols Therapeutics LLC
Graves' Ophthalmopathy (GO)
ASCEND GO-2: Study of RVT-1401 for the Treatment of Participants With Active, Moderate to Severe Graves' Ophthalmopathy ( GO )
The purpose of the current study is to assess the efficacy and safety/tolerability of three dose regimens of RVT-1401 in the treatment of active, moderate to severe GO participants.
- Trial name
- NCT03938545
- Testing
- RVT-1401 (Administered via subcutaneous injection)
- Where
- 25 sites in United States, Canada and 3 more
- Volunteers
- 65 people
- Sponsor
- Immunovant Sciences GmbH
Healthy Volunteers, Sickle Cell Disease
A SAD/MAD to Assess the Safety, PK/PD of FT-4202 in Healthy Volunteers and Sickle Cell Disease Patients
FT-4202 is an oral small-molecule agonist of pyruvate kinase red blood cell isozyme (PKR) being developed for the treatment of hemolytic anemias.
- Trial name
- NCT03815695
- Where
- 18 sites in United States
- Volunteers
- 130 people, healthy volunteers welcome
- Sponsor
- Forma Therapeutics, Inc.
Hereditary Angioedema
Safety and Pharmacokinetics of GNR-038 in Healthy Volunteers
It is an open-label dose-escalating study in sequential cohorts to assess safety and pharmacokinetics of GNR-038.
- Trial name
- NCT04557319
- Testing
- GNR-038, 25 МЕ/kg, GNR-038, 50 МЕ/kg, GNR-038, 100 МЕ/kg
- Where
- Russia
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- AO GENERIUM
Mental Health Issue
Delivery Format of Cognitive Behavioral Therapy Materials on Engagement and Outcomes: AI-Enabled App vs PDF Workbook
The goal of this clinical trial is to compare two different ways of delivering cognitive behavioral therapy (CBT) materials to people with symptoms of anxiety and depression. The main questions it aims to answer are: 1.
- Trial name
- NCT06459128
- Testing
- Limbic Care, Digital Workbook
- Where
- United Kingdom
- Volunteers
- 540 people, healthy volunteers welcome
- Sponsor
- Limbic Limited
Polycystic Kidney Disease, Adult, ADPKD
Safety of Lixivaptan in Subjects Previously Treated With Tolvaptan for Autosomal Dominant Polycystic Kidney Disease
This is a Phase 3, open-label, repeat-dose study designed to assess liver safety, non-liver safety, and efficacy of lixivaptan in participants who previously experienced liver chemistry test abnormalities while treated with…
- Trial name
- ALERT (NCT04152837)
- Testing
- Lixivaptan
- Where
- 6 sites in United States
- Volunteers
- 7 people
- Sponsor
- Palladio Biosciences
Skin Laxity, Skin Lines
Improved Skin Anti-aging Outcomes Associated With Collagen Fortified Consumption In 30 to 50-Year-old Women
The goal of this clinical trial is to study the efficacy of collagen supplement on the moisture content and elasticity. 70 participants of 30-50 years old women will be enrolled from two study sites and randomly assigned to use…
- Trial name
- NCT05670977
- Testing
- Study product plus collagen supplement, Study product without collagen supplement
- Where
- 2 sites in China
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Guangdong HuaPeptides Biotechnology Co., Ltd.
Hypercholesterolemia, Familial, Hyperlipidemia
Carotid B-Mode Ultrasound Study to Compare Anti-Atherosclerotic Effect of Torcetrpib/Atorvastatin to Atorvastatin Alone.
The Torcetrapib project was terminated on December 2, 2006 due to safety findings. To look at ultrasound images taken in the carotid arteries and to look at various lipids in the blood of people with heterozygous familial…
- Trial name
- RADIANCE 1 (NCT00136981)
- Testing
- torcetrapib/atorvastatin, atorvastatin
- Where
- 34 sites in United States, Canada and 6 more
- Volunteers
- 800 people
- Sponsor
- Pfizer
Achondroplasia
A Study to Evaluate Long-Term Safety, Tolerability, & Efficacy of BMN 111 in Children With Achondroplasia (ACH)
This is a Phase 2, Open-Label, Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of BMN 111 in Children with Achondroplasia.
- Trial name
- ACH (NCT02724228)
- Testing
- BMN 111
- Where
- 9 sites in United States, Australia and 2 more
- Volunteers
- 30 people
- Sponsor
- BioMarin Pharmaceutical
Atopic Dermatitis
Evaluate Efficacy and Safety of Repeat Subcutaneous Doses of FB825 in Adults With Moderate-to-Severe Atopic Dermatitis
This is a randomized, placebo-controlled and double-blind study to evaluate the efficacy, pharmacokinetics, and Safety of repeat subcutaneous doses of FB825 in adults with moderate-to-severe atopic dermatitis.
- Trial name
- NCT06397911
- Testing
- FB825
- Where
- 16 sites in United States, Taiwan
- Volunteers
- 114 people
- Sponsor
- Oneness Biotech Co., Ltd.
Muscular Dystrophy, Duchenne
Phase 1/2 Study in Boys With Duchenne Muscular Dystrophy
The MoveDMD study is a 3-part, Phase 1/2, multi-site study to evaluate the safety, efficacy, pharmacokinetics (PK) and pharmacodynamics (PD) of edasalonexent (also known as CAT-1004) in pediatric patients with a genetically…
- Trial name
- MoveDMD® (NCT02439216)
- Testing
- Edasalonexent
- Where
- 5 sites in United States
- Volunteers
- 31 people
- Sponsor
- Catabasis Pharmaceuticals
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