Clinical trials: Genetic Diseases
Oral Neoplasm
Early Prediction of Oral Cancer by S100A7 Immunohistochemistry Signature-based Assessment
The purpose of this observational study is to evaluate the utility of the S100A7 immunohistochemistry signature-based assessment - STRATICYTE - in determining the risk of progression to cancer of clinically suspicious oral…
- Trial name
- NCT04622462
- Testing
- Standard of Care Histopathology, STRATICYTE Assessment
- Where
- 3 sites in Canada
- Volunteers
- 500 people
- Sponsor
- Proteocyte Diagnostics Inc.
Drug-Related Side Effects and Adverse Reactions
DOAC ADRs Retrospective Study
This retrospective study's objective is to evaluate if Cipherome's algorithm could have predicted the serious adverse drug reactions (ADRs) experienced by patients while on direct oral anti-coagulants (DOACs).
- Trial name
- NCT04247919
- Where
- United States
- Volunteers
- 3 people, healthy volunteers welcome
- Sponsor
- Cipherome, Inc.
Skin Laxity, Wrinkle
Clinical Feasibility Study to Evaluate the Safety and Performance of the Profound Matrix System
This is a non-randomized, multi-center, open-label clinical trial evaluating clinical feasibility treatments with the Profound Matrix system.
- Conditions
- Skin Laxity, Wrinkle, Skin Condition
- Trial name
- NCT06157567
- Testing
- Profound Matrix
- Where
- 6 sites in United States, Canada and 1 more
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Candela Corporation
Advanced Solid Tumor, Advanced Solid Malignancies
A Phase I/II Study to Evaluate the Safety, Pharmacokinetics and Efficacy of PRJ1-3024 in Subjects with Advanced Solid Tumors
This is a multicenter, open-label study to assess the safety and preliminary efficacy and to determine the maximum tolerated dose (MTD) or maximum administration dose (MAD) and recommended Phase 2 doses (RP2D) of PRJ1-3024 in…
- Trial name
- NCT05315167
- Testing
- PRJ1-3024
- Where
- 5 sites in China
- Volunteers
- 267 people
- Sponsor
- Zhuhai Yufan Biotechnologies Co., Ltd
Retinitis Pigmentosa, Stargardt Macular Dystrophy
Development and Evaluation of Functional Visual Field and Navigation Endpoints in Moderate to Profound Inherited Retinal Disease (DEFINE-IRD)
The Vision Research and Assessment Institute (VRAI) was established with the purpose of serving as a testing facility for efficacy endpoints for patients with Low Vision.
- Conditions
- Retinitis Pigmentosa, Stargardt Macular Dystrophy, Stargardt Disease, Geographic Atrophy From Age-related Macular Degeneration
- Trial name
- DEFINE-IRD (NCT07502664)
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Ray Therapeutics, Inc.
Rett Syndrome
Safety and Preliminary Efficacy of TSHA-102 Gene Therapy in Pediatric Females Aged >2 to <4 Years With Rett Syndrome
The primary objectives of this study are to evaluate the safety, tolerability and preliminary efficacy of a single intrathecal (IT) dose of TSHA-102 in pediatric females with typical Rett syndrome.
- Trial name
- ASPIRE (NCT07480564)
- Testing
- TSHA-102
- Where
- 3 sites in United States
- Volunteers
- 4 people
- Sponsor
- Taysha Gene Therapies, Inc.
Dermatitis, Atopic, Pruritus
A Study to Evaluate the Anti-pruritic Effectiveness of ASN008 in Adults With Mild to Moderate Atopic Dermatitis
The goal of this clinical trial is to evaluate ASN008 in people with itch caused by eczema. The main questions it aims to answer are: What is the efficacy and safety of ASN008? What is the impact of ASN008 on itch in patients…
- Trial name
- NCT05870865
- Testing
- ASN008, ASN008 Matching Vehicle
- Where
- 27 sites in United States
- Volunteers
- 144 people
- Sponsor
- Formation Bio, Inc.
Safety and Pharmacokinetics in Healthy Volunteer Subjects
A Phase 1 Open-Label Study to Evaluate the Metabolism and Excretion of CC-223 and the Effect of Food on the Pharmacokinetics of CC-223 in Healthy Male Adult Subjects
Part 1: To characterize the biotransformation and excretion of CC-223 following a single 20-mg oral dose of CC-223 capsule containing a microtracer of [14C]-CC-223 solution in healthy male subjects; and to evaluate the…
- Trial name
- AME/FE (NCT01611467)
- Testing
- CC-223
- Where
- United States
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Celgene
Cystic Fibrosis, Non-Cystic Fibrosis Bronchiectasis
A Clinical Study to Investigate Safety, Tolerability and Distribution of CHF 6333 After One or After Repeated Inhalation in Patients With Cystic Fibrosis (CF) and in Patients With Non Cystic Fibrosis (NCFB) Bronchiectasis
CHF 6333 is a medicinal product on development for the treatment of cystic fibrosis and non-CF bronchiectasis and undergoing clinical testing. It has not yet been approved by the authorities for the treatment of these diseases.
- Trial name
- NCT04010799
- Testing
- CHF 6333
- Where
- Germany
- Volunteers
- 68 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Pompe Disease Infantile-Onset, Glycogen Storage Disease Type II
Extension Study of Long-term Safety and Efficacy of Myozyme in Patients With Pompe Disease Who Were Previously Enrolled in Genzyme Sponsored Enzyme Replacement Therapy (ERT) Studies
This extension study was to monitor the long-term safety and efficacy of rhGAA treatment in patients with infantile-onset Pompe disease who were previously treated with rhGAA derived from the Synpac cell line
- Trial name
- NCT00763932
- Testing
- Myozyme
- Where
- 8 sites in United States, France and 1 more
- Volunteers
- 7 people
- Sponsor
- Genzyme, a Sanofi Company
Hemophilia B
Safety of a New Type of Treatment Called Gene Transfer for the Treatment of Severe Hemophilia B
In this study a modified virus called adeno-associated virus (AAV) will be used to transfer a normal gene for human clotting factor IX into patients with severe hemophilia B (AAV human Factor IX vector).
- Trial name
- NCT00076557
- Testing
- Adeno-Associated Viral with Human Factor IX
- Where
- 3 sites in United States
- Volunteers
- 15 people
- Sponsor
- Avigen
Optic, Atrophy, Hereditary, Leber
Efficacy Study of GS010 for the Treatment of Vision Loss up to 6 Months From Onset in LHON Due to the ND4 Mutation
The goal of this clinical trial is to assess the effectiveness of GS010, a gene therapy, in improving the visual outcome in participants with Leber Hereditary Optic Neuropathy (LHON) due to the G11778A ND4 mitochondrial mutation…
- Trial name
- RESCUE (NCT02652767)
- Testing
- GS010
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 39 people
- Sponsor
- GenSight Biologics
Primary Hypercholesterolemia, Mixed Hyperlipemia
Study of SHR-1209 in the Treatment of Hypercholesterolemia and Hyperlipidemia Ⅲ Stage
The study is ongoing to evaluate the efficacy and safety of SHR-1209 in patients with hypercholesterolemia and hyperlipemia.
- Trial name
- NCT04849000
- Testing
- SHR-1209
- Where
- China
- Volunteers
- 709 people
- Sponsor
- Jiangsu HengRui Medicine Co., Ltd.
Cystic Fibrosis, Fibrosis
Efficacy and Safety of Tigerase® vs. Pulmozyme® in Patients With Cystic Fibrosis
It is a multicenter, open-label, randomized, parallel-group study of the efficacy and safety of Tigerase® compared Pulmozyme® in patients with Cystic Fibrosis
- Trial name
- NCT04468100
- Testing
- Tigerase®, Pulmozyme®
- Where
- 14 sites in Russia
- Volunteers
- 100 people
- Sponsor
- AO GENERIUM
Phenylketonurias
Study of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet
The primary objective of this trial is to evaluate the ability of Phenoptin to increase phenylalanine (phe) tolerance in children with phenylketonuria who are following a phe-restricted diet.
- Trial name
- NCT00272792
- Testing
- Sapropterin Dihydrochloride
- Where
- 9 sites in United States
- Volunteers
- 45 people
- Sponsor
- BioMarin Pharmaceutical
Gout
A Phase 2 Trial of Dotinurad in Xanthine Oxidase Inhibitor (XOI) Intolerant/Uricase Failure Gout Participants
The primary objective of this trial is to evaluate the efficacy of dotinurad in lowering serum uric acid (sUA) at Week 24 in participants with gout who are XOI intolerant or have failed uricase treatment.
- Trial name
- NCT07535034
- Testing
- Dotinurad
- Where
- 41 sites in United States
- Volunteers
- 90 people
- Sponsor
- Crystalys Therapeutics
Huntington Disease
Study to Evaluate the Pharmacodynamics, Safety and Efficacy of SKY-0515 in Participants With Huntington's Disease
The goal of this clinical trial is to test if the drug SKY-0515, an oral medication, can lower harmful proteins linked to Huntington's Disease (HD) and improve the symptoms of participants with HD.
- Trial name
- FALCON-HD (NCT07378644)
- Testing
- SKY-0515
- Where
- 31 sites in United States, Argentina and 8 more
- Volunteers
- 400 people
- Sponsor
- Skyhawk Therapeutics, Inc.
Atopic Dermatitis
Safety and Efficacy of Pimecrolimus Cream 1% in Atopic Disease Modification
This study consists of a 3-year double-blind phase during which patients will receive atopic dermatitis (AD) treatment either with pimecrolimus cream 1% long-term management (LTM) or with a conventional corticosteroid-based…
- Trial name
- NCT00124709
- Testing
- Pimecrolimus, Corticosteroid
- Where
- 36 sites in United States
- Volunteers
- 1,091 people
- Sponsor
- Novartis Pharmaceuticals
Anemia, Sickle Cell, Complex and Transfusion-dependent Hemoglobinopathies
Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies
The goal of this research study is to establish chimerism and avoid graft-versus-host disease in patients with hemoglobinopathies.
- Conditions
- Anemia, Sickle Cell, Complex and Transfusion-dependent Hemoglobinopathies, Thalassemia, Diamond-Blackfan Anemia
- Trial name
- NCT01419704
- Testing
- Enriched Hematopoetic Stem Cell Infusion
- Where
- 3 sites in United States
- Sponsor
- Talaris Therapeutics Inc.
Hypophosphatasia
Extension Study of Protocol ENB-002-08 - Study of Asfotase Alfa in Infants and Young Children With Hypophosphatasia (HPP)
This clinical trial studied the long term safety and efficacy of asfotase alfa in infants and young children with infantile onset HPP who completed study ENB-002-08 (NCT00744042).
- Trial name
- NCT01205152
- Testing
- asfotase alfa
- Where
- 8 sites in United States, United Arab Emirates and 1 more
- Volunteers
- 10 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
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