Clinical trials: Mutations
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
Cystic Fibrosis
A Study Evaluating Efficacy and Safety of Elexacaftor/Tezacaftor/Ivacaftor in Subjects 6 Through 11 Years of Age With Cystic Fibrosis and F/MF Genotypes
This study will evaluate the efficacy and safety of elexacaftor (ELX) / tezacaftor (TEZ) / ivacaftor (IVA) triple combination (TC) in subjects 6 through 11 years of age with cystic fibrosis (CF) who are heterozygous for F508del…
- Trial name
- NCT04353817
- Testing
- ELX/TEZ/IVA, IVA
- Where
- 34 sites in Australia, Canada and 8 more
- Volunteers
- 121 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
PIK3CA-Related Overgrowth Spectrum (PROS), Lymphatic Malformations
A Phase 2 Study of Mutant-selective PI3Kα Inhibitor, RLY-2608, in Adults and Children With PIK3CA Related Overgrowth Spectrum and Malformations Driven by PIK3CA Mutation (The ReInspire Study)
This is a 3-part Phase 2 randomized study evaluating the safety and efficacy of the mutant-selective PI3Kα inhibitor, zovegalisib (RLY-2608), in adults and children with PIK3CA Related Overgrowth Spectrum (PROS) and malformations…
- Conditions
- PIK3CA-Related Overgrowth Spectrum (PROS), Lymphatic Malformations, Vascular Malformations, PIK3CA Mutation
- Trial name
- NCT06789913
- Testing
- RLY-2608
- Where
- 40 sites in United States, Australia and 7 more
- Volunteers
- 277 people
- Sponsor
- Relay Therapeutics, Inc.
DFNB9, Cochlear Implantation
Safety, Tolerability, Efficacy of EA0010 in OTOF Patients With CI
This study will evaluate the safety, tolerability, and efficacy of EA0010 injection in patients with OTOF-related hearing loss who have already undergone cochlear implantation.
- Trial name
- NCT07752888
- Testing
- EA0010 Injection
- Where
- China
- Volunteers
- 1 people
- Sponsor
- Shanghai EmayGene Technology Co., Ltd
Cystic Fibrosis
Rollover Study of Ivacaftor in Subjects With Cystic Fibrosis and a Non G551D CFTR Mutation
The purpose of this study is to evaluate the safety of long-term ivacaftor treatment in participants with cystic fibrosis (CF) from Studies 110 (NCT01614457), 111 (NCT01614470), and 113 (NCT01685801).
- Trial name
- KONTINUE (NCT01707290)
- Testing
- Ivacaftor
- Where
- 38 sites in United States, Belgium and 2 more
- Volunteers
- 125 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Congenital Hearing Loss Secondary to Biallelic Mutations in the Otoferlin Gene (OTOF), Biallelic Mutations in the Gap Junction Beta 2 (GJB2) Gene
A Natural History Study in Pediatric Participants With Hearing Loss Due to OTOF, GJB2, or GJB2/GJB6 Mutations
This is an observational study to examine the characteristics of gene-related hearing loss in pediatric participants with biallelic otoferlin (OTOF) Mutations, Gap Junction Beta 2 (GJB2) Mutations, or Digenic GJB2/Gap Junction…
- Conditions
- Congenital Hearing Loss Secondary to Biallelic Mutations in the Otoferlin Gene (OTOF), Biallelic Mutations in the Gap Junction Beta 2 (GJB2) Gene, Digenic Mutations in GJB2/Gap Junction Beta 6 (GJB6) Genes
- Trial name
- ENSEMBLE (NCT06019481)
- Where
- 2 sites in United States
- Sponsor
- Regeneron Pharmaceuticals
Cystic Fibrosis
Study of Ivacaftor in Subjects With Cystic Fibrosis (CF) Who Have a Non-G551D CF Transmembrane Conductance Regulator (CFTR) Gating Mutation
The purpose of this study is to evaluate the efficacy and safety of ivacaftor in subjects with cystic fibrosis (CF) who have a non-G551D cystic fibrosis transmembrane regulator (CFTR) gating mutation (any one of the following…
- Trial name
- KONNECTION (NCT01614470)
- Testing
- Ivacaftor
- Where
- 12 sites in United States, Belgium and 1 more
- Volunteers
- 39 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Malignant Melanoma
Comparison of In-House Methods and Cobas BRAF V600 Mutation Assay in Melanoma Tumor Samples
This non-interventional study will compare the Cobas BRAF V600 mutation assay with in-house methods used in molecular laboratories for the assessment of the BRAF mutation status in melanoma tumor samples.
- Trial name
- NCT01744860
- Where
- 12 sites in France
- Volunteers
- 420 people
- Sponsor
- Hoffmann-La Roche
Sickle Cell Disease (SCD)
Study of Two Doses of Crizanlizumab Versus Placebo in Adolescent and Adult Sickle Cell Disease Patients
The purpose of this study is to compare the efficacy and safety of 2 doses of crizanlizumab (5.0 mg/kg and 7.5 mg/kg) versus placebo in adolescent and adult sickle cell disease (SCD) patients with history of vaso-occlusive crisis…
- Trial name
- STAND (NCT03814746)
- Testing
- Crizanlizumab (SEG101)
- Where
- 58 sites in United States, Belgium and 19 more
- Volunteers
- 253 people
- Sponsor
- Novartis Pharmaceuticals
Optic, Atrophy, Hereditary, Leber
Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 Mutation (REVERSE)
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
- REVERSE (NCT02652780)
- Testing
- GS010
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 37 people
- Sponsor
- GenSight Biologics
NLRC4-GOF, AIFEC (Autoinflammation With Infantile Enterocolitis), XIAP Deficiency, CDC42 Mutations
Study to Evaluate the Efficacy, Safety and Tolerability of MAS825 in Patients With Monogenic IL-18 Driven Autoinflammatory Diseases, Including NLRC4-GOF, XIAP Deficiency, or CDC42 Mutations
This study is a Phase 2 trial designed to evaluate the clinical efficacy, safety, and tolerability of MAS825 in patients with NLRC4-GOF, XIAP deficiency, or CDC42 mutations.
- Trial name
- MASter-1 (NCT04641442)
- Testing
- MAS825
- Where
- 12 sites in United States, Czechia and 5 more
- Volunteers
- 17 people
- Sponsor
- Novartis Pharmaceuticals
Cystic Fibrosis
A Phase 3 Study of VX-121 Combination Therapy in Participants With Cystic Fibrosis (CF) Heterozygous for F508del and a Minimal Function Mutation (F/MF)
The purpose of this study evaluates the efficacy and safety of VX-121/tezacaftor/deutivacaftor (VX-121/TEZ/D-IVA) in CF participants who were heterozygous for F508del and a minimal function mutation (F/MF participants).
- Trial name
- NCT05033080
- Testing
- VX-121/TEZ/D-IVA, ELX/TEZ/IVA, IVA
- Where
- 139 sites in United States, Australia and 10 more
- Volunteers
- 435 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Sequence Analysis
Analysis of Tumor Mutations and Tumor Microenvironment Using Archival Paraffin-embedded Tumor Specimens
Genomic alterations have long been recognized as an important factor in tumor formation and drive tumor cell growth. However, the degree of genomic mutation (tumor mutation load, TMB) varies widely between tumors.
- Trial name
- NCT03719222
- Testing
- non intervention
- Where
- Taiwan
- Volunteers
- 600 people
- Sponsor
- ACT Genomics
Muscular Dystrophy, Duchenne, Muscular Dystrophies
Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy
This study is a long-term study of ataluren in participants with nonsense mutation Duchenne muscular dystrophy.
- Conditions
- Muscular Dystrophy, Duchenne, Muscular Dystrophies, Muscular Disorders, Atrophic, Muscular Diseases
- Trial name
- NCT03179631
- Testing
- Ataluren
- Where
- 64 sites in United States, Australia and 16 more
- Volunteers
- 360 people
- Sponsor
- PTC Therapeutics
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
Muscular Dystrophy, Duchenne
A Study to Compare Safety and Efficacy of High Doses of Eteplirsen in Participants With Duchenne Muscular Dystrophy (DMD) (MIS51ON)
Part 1 (dose escalation) will evaluate the safety and tolerability of 2 doses (100 milligrams/kilogram [mg/kg] and 200 mg/kg) of eteplirsen in approximately 10 participants with DMD; Part 2 (dose finding and dose comparison) will…
- Trial name
- MIS51ON (NCT03992430)
- Testing
- Eteplirsen
- Where
- 59 sites in United States, Colombia and 24 more
- Volunteers
- 160 people
- Sponsor
- Sarepta Therapeutics, Inc.
Progressive Familial Intrahepatic Cholestasis (PFIC)
A Study to Evaluate the Efficacy and Safety of Maralixibat in Subjects With Progressive Familial Intrahepatic Cholestasis (MARCH-PFIC)
The purpose of this study is to determine whether the investigational treatment (maralixibat) is safe and effective in pediatric participants with Progressive Familial Intrahepatic Cholestasis (PFIC).
- Trial name
- MARCH-PFIC (NCT03905330)
- Testing
- Maralixibat
- Where
- 31 sites in United States, Argentina and 15 more
- Volunteers
- 93 people
- Sponsor
- Mirum Pharmaceuticals, Inc.
Cystic Fibrosis
Observational Study of Outcomes in Cystic Fibrosis Patients With Selected Gating Mutations on a CFTR Allele (The VOCAL Study)
To describe the effectiveness of Kalydeco® treatment in patients with cystic fibrosis (CF) who have 1 of 8 non G551D gating CFTR mutations (G178R, S549N, S549R, G551S, G1244E, S1251N, S1255P, or G1349D).
- Trial name
- VOCAL (NCT02445053)
- Testing
- ivacaftor
- Where
- 15 sites in Italy, Netherlands and 1 more
- Volunteers
- 75 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Leber Hereditary Optic Neuropathy
Efficacy & Safety Study of Bilateral IVT Injection of GS010 in LHON Subjects Due to the ND4 Mutation for up to 1 Year
The goal of this clinical trial is to assess the efficacy and safety of GS010 gene therapy - (lenadogene nolparvovec) in subjects with LHON due to the G11778A ND4 mitochondrial mutation with a vision loss up to one year.
- Trial name
- REFLECT (NCT03293524)
- Testing
- GS010
- Where
- 13 sites in United States, Belgium and 5 more
- Volunteers
- 98 people
- Sponsor
- GenSight Biologics
Hypereosinophilic Syndrome, Systemic Mastocytosis
Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes
This trial is for various types of malignancies which may depend on certain enzymes (tyrosine kinases) for growth. The objective of this study is to assess to what extent imatinib mesylate blocks these enzymes and to assess the…
- Conditions
- Hypereosinophilic Syndrome, Systemic Mastocytosis, Chronic Myelomonocytic Leukemia, Dermatofibrosarcoma
- Trial name
- NCT00171912
- Testing
- imatinib mesylate
- Where
- Australia
- Volunteers
- 38 people
- Sponsor
- Novartis Pharmaceuticals