Clinical trials: Genetic Diseases
Genetic Disorder, Achondroplasia
Special Survey for Long Term Application
This study is conducted in Japan. The aim of this study is to assess the incidence rate of adverse drug reactions (ADRs) when using somatropin (Norditropin®) for treatment of for achondroplasia without epiphyseal line closure…
- Trial name
- NCT01516229
- Testing
- somatropin
- Where
- 2 sites in Japan
- Volunteers
- 395 people
- Sponsor
- Novo Nordisk A/S
Autosomal Dominant Optic Atrophy, Optic Atrophy, Autosomal Dominant
Natural History of Autosomal Dominant Optic Atrophy (ADOA), Caused by OPA1 Mutation
The purpose of this study is to characterize the disease progression of confirmed OPA1 mutation-associated autosomal dominant optic atrophy (ADOA) by evaluating the changes in ocular structural and functional outcomes.
- Conditions
- Autosomal Dominant Optic Atrophy, Optic Atrophy, Autosomal Dominant, Optic Atrophies, Hereditary, Kjer Optic Atrophy
- Trial name
- NCT06140329
- Where
- 7 sites in United States, Australia and 4 more
- Volunteers
- 1 people
- Sponsor
- PYC Therapeutics
Hereditary Angioedema
An Open-label Drug-Drug Interaction Study to Evaluate the Effect of BCX7353 on Cytochrome P450 Enzyme Activity Using Probe Substrates
This is an open-label, single sequence study to evaluate the effect of BCX7353 on hepatic and intestinal cytochrome P450 enzymes using probe substrate drugs in healthy subjects.
- Trial name
- NCT02819102
- Testing
- BCX7353 and probes
- Where
- United Kingdom
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- BioCryst Pharmaceuticals
Spinal Muscular Atrophy, Spinal Muscular Atrophy Type 3
An Active Treatment Study of SRK-015 in Patients With Type 2 or Type 3 Spinal Muscular Atrophy
The TOPAZ study will assess the safety and efficacy of SRK-015 in later-onset Spinal Muscular Atrophy (SMA Type 2 and Type 3) in pediatric and adult patients.
- Conditions
- Spinal Muscular Atrophy, Spinal Muscular Atrophy Type 3, Spinal Muscular Atrophy Type 2, SMA
- Trial name
- TOPAZ (NCT03921528)
- Testing
- SRK-015
- Where
- 16 sites in United States, Italy and 2 more
- Volunteers
- 58 people
- Sponsor
- Scholar Rock, Inc.
Behçet Disease
Dusquetide for the Treatment of Behcet's Disease
This is a clinical study to see if dusquetide can treat flares of oral and genital ulcers caused by Behcet's Disease. Study participants will receive an infusion of dusquetide twice a week for 4 weeks (8 treatments total), with…
- Trial name
- NCT06386744
- Testing
- Dusquetide
- Where
- Turkey (Türkiye)
- Volunteers
- 8 people
- Sponsor
- Soligenix
Tourette's Syndrome
Ecopipam Treatment of Tourette Syndrome
Tourette's Syndrome is a neurological disease characterized by verbal and motor tics. The currently available drug treatments are considered to be inadequate.
- Trial name
- NCT01244633
- Testing
- Ecopipam
- Where
- 4 sites in United States
- Volunteers
- 18 people
- Sponsor
- Psyadon Pharma
Severe Hemophilia A
rFVIII-Fc (Produced by AryoGen Pharmed Co.) Pharmacokinetic Study
The study is designed as a randomized, two-armed, double-blind, single-dose, crossover, two-sequence, active-controlled, multi-center, bioequivalence clinical trial with a primary endpoint of dose-normalized area under the curve…
- Trial name
- NCT06137092
- Testing
- Factor VIII, recombinant human with Fc fusion (rFVIII-Fc)
- Where
- 5 sites in Iran
- Volunteers
- 50 people
- Sponsor
- AryoGen Pharmed Co.
Diabetic Retinopathy
A Study to Evaluate the Efficacy and Safety of Tarcocimab Tedromer Compared With Sham Treatment in Participants With Diabetic Retinopathy (DR)
This study will demonstrate that tarcocimab 5 mg is superior to sham treatment in participants with DR.
- Trial name
- GLOW2 (NCT06270836)
- Testing
- Tarcocimab
- Where
- 39 sites in United States, Puerto Rico
- Volunteers
- 255 people
- Sponsor
- Kodiak Sciences Inc
Fragile X Syndrome
Open Label Extension to Assess the Long-Term Safety and Tolerability of ZYN002 in Children and Adolescents With FXS
ZYN002 is a pharmaceutically manufactured Cannabidiol that is developed as a clear gel that can be applied to the skin (called transdermal delivery).
- Trial name
- NCT03802799
- Testing
- ZYN002 - Cannabidiol Transdermal Gel
- Where
- 26 sites in United States, Australia and 2 more
- Volunteers
- 476 people
- Sponsor
- Zynerba Pharmaceuticals, Inc.
Hemophilia A
A Gene Transfer Study for Hemophilia A
This clinical research study is being conducted by Spark Therapeutics, Inc. to determine the safety and efficacy of the factor VIII gene transfer treatment with SPK-8011 in individuals with hemophilia A.
- Trial name
- NCT03003533
- Testing
- SPK-8011
- Where
- 16 sites in United States, Australia and 3 more
- Volunteers
- 25 people
- Sponsor
- Spark Therapeutics, Inc.
Hemophilia A
A Study to Evaluate Impact of Efanesoctocog Alfa on Long-term Joint Health in Participants With Hemophilia A
This is a prospective, observational, multi-center longitudinal cohort study to describe the real-world effectiveness, safety and treatment usage of efanesoctocog alfa in patients with hemophilia A treated per standard of care in…
- Trial name
- NCT05911763
- Testing
- Efanesoctocog Alfa BIVV001
- Where
- 28 sites in United States
- Volunteers
- 200 people
- Sponsor
- Sanofi
Retinitis Pigmentosa
Safety of a Single, Intravitreal Injection of 6.0M jCell (Famzeretcel) in Retinitis Pigmentosa (RP)
This study evaluates the safety of a single injection of jCell (famzeretcel) comprising 6.0 million (6.0M) retinal progenitor cells over a six-month study period in a cohort of adult subjects with RP.
- Trial name
- NCT06912633
- Testing
- human retinal progenitor cells, Mock injection
- Where
- 12 sites in United States
- Volunteers
- 31 people
- Sponsor
- jCyte, Inc
Hemophilia A
Joint Status in Subjects With Severe Hemophilia A in Relation to Different Treatment Regimens
The joint status (knees, ankles) of patients suffering from severe Hemophilia A (too little blood clotting factor VIII in blood) is evaluated in a single magnetic resonance imaging session. No study medication is given.
- Trial name
- NCT00927667
- Testing
- No Drug
- Where
- 15 sites in Germany, Greece and 4 more
- Volunteers
- 156 people
- Sponsor
- Bayer
Cardiac Glycogenosis, Cardiomyopathy
ATR 1072 in Participants With PRKAG2 Syndrome
ATR 1072 is an investigational medicine being studied in adults with PRKAG2 Syndrome. This study will evaluate the safety of ATR 1072 and how the body processes the drug.
- Conditions
- Cardiac Glycogenosis, Cardiomyopathy, Hypertrophic, Wolff-Parkinson-White Syndrome
- Trial name
- NCT07738107
- Testing
- ATR 1072
- Where
- United States
- Volunteers
- 37 people
- Sponsor
- Atrium Therapeutics
Hereditary Angioedema
First-in-Human Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of BCX7353 in Healthy Western and Japanese Volunteers
This is a 3-part Phase 1 dose-ranging study to evaluate the safety, tolerability, pharmacokinetics and pharmacodynamics of single (Part 1) and multiple (Part 2) ascending doses of BCX7353 in healthy subjects, and single and…
- Trial name
- NCT02448264
- Testing
- BCX7353
- Where
- United Kingdom
- Volunteers
- 122 people, healthy volunteers welcome
- Sponsor
- BioCryst Pharmaceuticals
Meningococcal Vaccine
Trial to Describe the Safety, Tolerability, and Immunogenicity of Trumenba When Administered to Immunocompromised Participants ≥10 Years of Age
The aim of this study is to evaluate the safety, tolerability, and immunogenicity of 2 doses of Trumenba® (on a 0- and 6-month schedule) in immunocompromised participants by functionally assessing antibody production in asplenic…
- Trial name
- NCT04893811
- Testing
- Trumenba
- Where
- 14 sites in Czechia, Poland and 1 more
- Volunteers
- 53 people, healthy volunteers welcome
- Sponsor
- Pfizer
Von Willebrand Diseases
Bleeding Incidence in VWD Patients Undergoing On-Demand Treatment
The purpose of this study is to prospectively obtain reliable data on the bleeding and treatment pattern of patients with VWD undergoing on-demand treatment with a VWF-containing product over a period of 6 months.
- Trial name
- NCT04053699
- Testing
- Von Willebrand Factor-Containing Product
- Where
- 15 sites in United States, Belarus and 6 more
- Volunteers
- 56 people
- Sponsor
- Octapharma
Skin Laxity of Abdomen, Thighs, Chest, Back, and Neck
Suture Granuloma in Body Contouring Surgery
The purpose of this study is to evaluate the effect of different suture material on the incidence of suture granuloma.
- Trial name
- NCT00223132
- Testing
- Absorbable sutures
- Where
- United States
- Sponsor
- Medtronic - MITG
Hereditary Angioedema
A Study to Assess the Long-Term Safety and Efficacy of Donidalorsen in the Prophylactic Treatment of Hereditary Angioedema (HAE)
The purpose of this study is to evaluate the long-term safety and efficacy of donidalorsen in people with HAE and the effects of donidalorsen on the number of HAE attacks and their impact on quality of life (QoL).
- Trial name
- NCT05392114
- Testing
- Donidalorsen
- Where
- 50 sites in United States, Belgium and 12 more
- Volunteers
- 154 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
Huntington Disease
Safety and Tolerability Study With VY-HTT01, in Adults With Early Manifesting Huntington's Disease
This is the first clinical study of VY-HTT01, a gene therapy for early-stage Huntington's Disease (HD) patients. The primary goal of this trial is to evaluate the safety and tolerability of VY-HTT01.
- Trial name
- NCT04885114
- Testing
- Intraparenchymal rAAV1 - (mi)RNA HTT
- Sponsor
- Voyager Therapeutics
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