Clinical trials: Genetic Conditions
Rett Syndrome
A Phase 1/2/3 Study of TSHA-102 Gene Therapy in Females With Rett Syndrome (REVEAL Pivotal Study)
The primary objectives of this study are to evaluate the safety of a single intrathecal (IT) dose of TSHA-102 in females with typical Rett syndrome, to select the TSHA-102 dose with the best benefit/risk profile based on the…
- Trial name
- NCT05606614
- Testing
- TSHA-102
- Where
- 9 sites in United States, Canada
- Volunteers
- 17 people
- Sponsor
- Taysha Gene Therapies, Inc.
Hyperphagia, Prader-Willi Syndrome
The Hunger Elimination or Reduction Objective (HERO ) Open -Label Extension (OLE) Trial
The goal of this clinical trial is to learn if ARD-101 works to treat hyperphagia-related behavior in patients with Prader-Willi syndrome (PWS) when used in a long term setting. It will also teach us about the safety of ARD-101.
- Conditions
- Hyperphagia, Prader-Willi Syndrome, Hyperphagia in Prader-Willi Syndrome
- Trial name
- NCT07197034
- Testing
- ARD-101
- Where
- 30 sites in United States, Australia and 3 more
- Volunteers
- 19 people
- Sponsor
- Aardvark Therapeutics, Inc.
Refractive Errors
Clinical Evaluation of Acuity 200 (Fluoroxyfocon A) RGP Contact Lens
The objective of this clinical investigation is to collect valid scientific safety and effectiveness data on the Acuity 200 (fluoroxyfocon A) Rigid Gas Permeable Contact Lens, manufactured from a newly developed rigid gas…
- Trial name
- Acuity 200 (NCT03971227)
- Testing
- Acuity 200 (Fluoroxyfocon A) contact lens, Acuity 100 (Hexafocon A) contact lens
- Where
- 3 sites in United States
- Volunteers
- 74 people, healthy volunteers welcome
- Sponsor
- Acuity Polymers, Inc.
Gaucher Disease
Expanded Access Trial of Plant Expressed Recombinant Glucocerebrosidase (prGCD) in Patients With Gaucher Disease
This is an open-label expanded access trial of prGCD in patients with Gaucher disease who require enzyme replacement therapy (ERT) and who have been treated with imiglucerase but for whom the dose has been reduced or discontinued…
- Trial name
- NCT00962260
- Testing
- Plant cell expressed recombinant glucocerebrosidase (prGCD)
- Where
- 15 sites in United States, Israel
- Sponsor
- Pfizer
Diabetes Mellitus, Type 2, Cardiovascular Diseases
Clinical Utility of a Genomic Predictor Test on the Management of Cardiorenal Complications of Type 2 Diabetes
The goal of this pragmatic trial is to provide Real World Evidence (RWE) on the impact of the result of a polygenic risk prediction test of cardiorenal complications of T2D, so that more patients at high risk of these…
- Conditions
- Diabetes Mellitus, Type 2, Cardiovascular Diseases, Diabetic Nephropathy Type 2
- Trial name
- GENOCORDIA (NCT06586203)
- Testing
- Polygenic Risk Score
- Where
- 2 sites in Canada
- Volunteers
- 2,714 people
- Sponsor
- Optithera
Hyperphagia, Prader-Willi Syndrome
ARD-101 for Treatment of PWS: The Hunger Elimination or Reduction Objective Trial
The goal of this clinical trial is to learn if ARD-101 works to treat hyperphagia-related behavior in patients with Prader-Willi syndrome (PWS). It will also teach us about the safety of ARD-101.
- Trial name
- HERO (NCT06828861)
- Testing
- ARD-101
- Where
- 31 sites in United States, Australia and 3 more
- Volunteers
- 68 people
- Sponsor
- Aardvark Therapeutics, Inc.
Atopic Dermatitis
A Study to Assess the Safety and Efficacy of ZPL389 With TCS/TCI in Atopic Dermatitis Patients
This extension study (CZPL389A2203E1) was designed as a 2-year (100 weeks) extension to the core study (CZPL389A2203/ NCT03517566) which is disclosed separately.
- Trial name
- ZESTExt (NCT03948334)
- Testing
- ZPL389 30mg, ZPL389 50mg, TCS and/or TCI
- Where
- 48 sites in United States, Belgium and 11 more
- Volunteers
- 123 people
- Sponsor
- Novartis Pharmaceuticals
Alpha-1 Antitrypsin Deficiency
Respreeza® Self-administration and Learning Program (AmAREtTI Study)
According to the Respreeza® Summary of Product Characteristics, the initial infusions must be administered under the supervision of a health professional experienced in the treatment of alpha-1 antitrypsin deficiency, although…
- Trial name
- AmAREtTI (NCT04262284)
- Where
- 11 sites in France
- Volunteers
- 15 people
- Sponsor
- CSL Behring
Achromatopsia
Clinical and Genetic Characterization of Individuals With Achromatopsia
The purpose of this study is to identify individuals with achromatopsia caused by mutations in the CNGB3 gene and characterize their clinical condition using several tests of visual function every 6 months for up to 1.5 years.
- Trial name
- NCT01846052
- Where
- 5 sites in United States
- Volunteers
- 56 people
- Sponsor
- Beacon Therapeutics
Fibrodysplasia Ossificans Progressiva, FOP
A Study to Investigate the Safety, Pharmacokinetics (PK), and Efficacy of Garetosmab in Children and Adolescents With Fibrodysplasia Ossificans Progressiva (FOP)
This study is researching an experimental drug called garetosmab, referred to as "study drug". The study is focused on children and adolescent participants with FOP.
- Trial name
- OPTIMA-2 (NCT07559513)
- Testing
- garetosmab
- Volunteers
- 18 people
- Sponsor
- Regeneron Pharmaceuticals
Eczema, Atopic Dermatitis
NPQ Plus Supplementation for Skin Health and Antioxidant Status
This study evaluated the effects of NPQ Plus supplementation on skin health, antioxidant status, fatigue, and self-perceived well-being in healthy adults with skin concerns.
- Conditions
- Eczema, Atopic Dermatitis, Skin Health, Fatigue Symptom
- Trial name
- NCT07703215
- Testing
- NPQ Plus
- Where
- Malaysia
- Volunteers
- 55 people
- Sponsor
- N REMEDIER (M) SDN BHD
Fed
Bioequivalence Study of Lamotrigine Tablets 25 mg (2 x 25 mg Tablets) Under Fed Condition
This is an open Label, randomized, two-period, two-treatment, two-sequence, crossover, balanced, single dose pivotal study. The purpose of this study is to assess the bioequivalence between Test Product and the corresponding…
- Trial name
- NCT01618825
- Testing
- Lamotrigine Tablets 25 mg, Lamotrigine
- Where
- India
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- IPCA Laboratories Ltd.
Primary Hyperoxaluria Type 3
Natural History of Patients With PH3 and a History of Stone Events
This is a natural history study of adults, adolescents, and children (starting at birth) with genetically confirmed primary hyperoxaluria type 3 (PH3) who have a history of stone events during the last 3 years and/or the presence…
- Trial name
- PHYOX-OBX (NCT04542590)
- Where
- 6 sites in United States, Canada and 3 more
- Volunteers
- 7 people
- Sponsor
- Dicerna Pharmaceuticals, Inc., a Novo Nordisk company
Asthma, COPD
A Clinical Study in Healthy Subjects to Evaluate 9MW1911 Injection
This is a Phase 1, randomized, placebo-controlled study, enrolling approximately 38 healthy adult subjects (18-65 yrs). The purpose of this study is to evaluate the safety, tolerability and PK of single ascending dose of 9MW1911…
- Conditions
- Asthma, COPD, Atopic Dermatitis
- Trial name
- NCT05170243
- Testing
- 9MW1911 Injection
- Where
- China
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- Mabwell (Shanghai) Bioscience Co., Ltd.
Fragile X Syndrome (FXS), Fragile X Syndrome
Safety, Tolerability, and Preliminary Effectiveness of CTH120 in Fragile X Syndrome
The purpose of this Phase IIa study is to evaluate the safety, tolerability, and effectiveness of CTH120 in adult males with Fragile X syndrome.
- Trial name
- FXS-CTH120-01 (NCT07654114)
- Testing
- CTH120
- Where
- 2 sites in Spain
- Volunteers
- 30 people
- Sponsor
- Connecta Therapeutics, S.L.
Autosomal Dominant Retinitis Pigmentosa, Eye Diseases
A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene
This study evaluates the safety, tolerability and efficacy of QR-1123 injection in the eye (intravitreal; IVT) injections (one eye/unilateral) in subjects receiving a single dose or repeat doses.
- Conditions
- Autosomal Dominant Retinitis Pigmentosa, Eye Diseases, Eye Diseases, Hereditary, Retinal Dystrophies
- Trial name
- AURORA (NCT04123626)
- Testing
- QR-1123
- Where
- 5 sites in United States
- Volunteers
- 11 people
- Sponsor
- ProQR Therapeutics
Hepato-splenomegaly, Dysostosis Multiplex
Biomarker for Gangliosidosis: BioGM1/BioGM2 (BioGM1/GM2)
Development of a new MS-based biomarker for the ear-ly and sensitive diagnosis of GM1/GM2 from blood
- Conditions
- Hepato-splenomegaly, Dysostosis Multiplex, Seizures, Mental Retardation
- Trial name
- BioGM1/BioGM2 (NCT02298647)
- Where
- 5 sites in Egypt, Germany and 2 more
- Sponsor
- CENTOGENE GmbH Rostock
Cerebrotendinous Xanthomatosis
The Prevalence of CTX Disorder in Juvenile Cataract Cases in Turkey
Epidemiologic observational study. Study will include two phases: 1. Retrospective cross-sectional phase: At this stage of the study, retrospective screenings are carried out at study sites and all juvenile cataract cases are…
- Trial name
- GEN-EYE-I (NCT03584893)
- Testing
- Blood sampling for Cholestanol Analysis
- Where
- 36 sites in Turkey (Türkiye)
- Volunteers
- 1,000 people
- Sponsor
- TRPHARM
Pediatric SDLT CNS Disorders
Investigation of Individualised Antisense Oligonucleotides (ASOs) in People With Unique Genetic Variants Causing Severely Debilitating, Life Threatening (SDLT) Central Nervous System (CNS) Conditions
This study is being conducted to evaluate individualised antisense oligonucleotides (ASOs) in participants with severely debilitating, life threatening (SDLT) central nervous system (CNS) conditions caused by unique genetic…
- Trial name
- EOM-MP1 (NCT07410143)
- Testing
- Individualized ASO
- Where
- United Kingdom
- Volunteers
- 1 people
- Sponsor
- EveryONE Medicines Inc.
Tuberous Sclerosis, Angiofibroma
Long-term Trial of Topical Sirolimus to Angiofibroma in Patient With Tuberous Sclerosis Complex
The purpose of this trial is to evaluate the safety and efficacy of long-term treatment with NPC-12G gel (0.2% sirolimus gel) to angiofibroma and other skin lesions in patients with tuberous sclerosis complex in the open-label…
- Conditions
- Tuberous Sclerosis, Angiofibroma, Hypomelanotic Macule, Plaque
- Trial name
- NCT02634931
- Testing
- NPC-12G gel
- Where
- Japan
- Volunteers
- 94 people
- Sponsor
- Nobelpharma