Clinical trials: Mutation Abnormality
Leber Hereditary Optic Neuropathy
Safety and Efficacy Study of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy (LHON)
This study is meant to assess the safety and efficacy of rAAV2-ND4 treatment of Leber hereditary optic neuropathy with 11778 LHON mutation.
- Trial name
- rAAV2-ND4 (NCT01267422)
- Testing
- rAAV2-ND4
- Where
- China
- Volunteers
- 9 people
- Sponsor
- Bin Li
Cystic Fibrosis
Rollover Study to Evaluate the Safety and Efficacy of Long-term Treatment With Lumacaftor in Combination With Ivacaftor
Study 110 is a Phase 3, multicenter study in subjects aged 6 years and older with cystic fibrosis (CF) who are homozygous for the F508del-CF transmembrane conductance regulator (CFTR) mutation and who participated in Study 109…
- Trial name
- NCT02544451
- Testing
- LUM/IVA
- Where
- 60 sites in United States, Australia and 7 more
- Volunteers
- 246 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Leber Congenital Amaurosis 10, Blindness
Extension Study to Study PQ-110-001 (NCT03140969)
Subjects completing participation in study PQ-110-001 (EudraCT 2017-000813-22 / NCT03140969) will be given the opportunity to enroll into the extension study for continued dosing if available data support current and/or future…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Vision Disorders
- Trial name
- INSIGHT (NCT03913130)
- Testing
- QR-110
- Where
- 3 sites in United States, Belgium
- Volunteers
- 9 people
- Sponsor
- Laboratoires Thea
Deleterious BRCA1 Gene Mutation, Deleterious BRCA2 Gene Mutation
Rucaparib in Treating Patients With Genomic LOH High and/or Deleterious BRCA1/2 Mutation Stage IV or Recurrent Non-small Cell Lung Cancer (A Lung-MAP Treatment Trial)
This phase II Lung-MAP trial studies how well rucaparib works in treating patients with genomic loss of heterozygosity (LOH) high and/or deleterious BRCA1/2 mutation stage IV non-small cell lung cancer or that has come back.
- Conditions
- Deleterious BRCA1 Gene Mutation, Deleterious BRCA2 Gene Mutation, Loss of Heterozygosity, Lung Non-Small Cell Squamous Carcinoma
- Trial name
- NCT03845296
- Testing
- Rucaparib
- Where
- 950 sites in United States
- Volunteers
- 64 people
- Sponsor
- SWOG Cancer Research Network
Chronic Pancreatitis, Genetic Mutation
An Observational Study on the Natural Course of Chronic Pancreatitis
To explore the impact on genetic and environmental factors for clinical manifestation, and the progression of chronic pancreatitis, including development of pancreatic insufficiency and other complications.
- Conditions
- Chronic Pancreatitis, Genetic Mutation, Smoking, Tobacco, Drinking, Alcohol
- Trial name
- NCT04574297
- Testing
- smoking and alcohol assumption, genetic sequencing
- Volunteers
- 798 people
- Sponsor
- Changhai Hospital
Cystic Fibrosis
A Study to Evaluate the Efficacy and Safety of VX-661 in Combination With Ivacaftor in Subjects Aged 12 Years and Older With Cystic Fibrosis, Heterozygous for the F508del-CFTR Mutation
Study to evaluate the efficacy of VX-661 in combination with ivacaftor (IVA, VX-770) through Week 12 in participants with cystic fibrosis (CF) who are heterozygous for the F508del mutation on the CF transmembrane conductance…
- Trial name
- NCT02516410
- Testing
- VX-661 plus ivacaftor combination, Ivacaftor
- Where
- 41 sites in United States, Australia and 5 more
- Volunteers
- 168 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Advanced Lung Non-Squamous Non-Small Cell Carcinoma, Recurrent Lung Non-Squamous Non-Small Cell Carcinoma
Combination Treatment (Talazoparib Plus Avelumab) for Stage IV or Recurrent Non-Squamous Non-Small Cell Lung Cancer With STK11 Gene Mutation (A LUNG-MAP Treatment Trial)
This phase II LUNG-MAP treatment trial studies how well combination treatment (talazoparib plus avelumab) works in treating patients with non-squamous non-small cell lung cancer that has an STK11 gene mutation and has come back…
- Conditions
- Advanced Lung Non-Squamous Non-Small Cell Carcinoma, Recurrent Lung Non-Squamous Non-Small Cell Carcinoma, Stage IV Lung Cancer AJCC v8, Stage IVA Lung Cancer AJCC v8
- Trial name
- NCT04173507
- Testing
- Avelumab, Talazoparib, Talazoparib Tosylate
- Where
- 325 sites in United States
- Volunteers
- 47 people
- Sponsor
- SWOG Cancer Research Network
Cystic Fibrosis
Study of Ivacaftor in Cystic Fibrosis Subjects Aged 12 Years and Older With the G551D Mutation
The purpose of this study was to evaluate the efficacy and safety of ivacaftor in subjects with cystic fibrosis aged 12 years and older who have the G551D mutation in the cystic fibrosis transmembrane conductance regulator (CFTR)…
- Trial name
- STRIVE (NCT00909532)
- Testing
- Ivacaftor
- Where
- 65 sites in United States, Australia and 6 more
- Volunteers
- 167 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Cystic Fibrosis
A Study Evaluating the Long-term Safety and Efficacy of VX-445 Combination Therapy
The study evaluates the long-term safety and tolerability of VX-445 in triple combination (TC) with tezacaftor (TEZ) and ivacaftor (IVA) in subjects with cystic fibrosis (CF) who are homozygous or heterozygous for the F508del…
- Trial name
- NCT03525574
- Testing
- ELX/TEZ/IVA, IVA
- Where
- 110 sites in United States, Australia and 11 more
- Volunteers
- 507 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Leber's Hereditary Optic Neuropathy
Safety Study of an Adeno-associated Virus Vector for Gene Therapy of Leber's Hereditary Optic Neuropathy
The study is a dose-escalation study, phase 1. The objective of this proposed clinical trial is to evaluate the safety of mitochondrially targeted ND4 gene therapy with the adeno-associated viral vector in appropriate LHON…
- Trial name
- LHON (NCT02161380)
- Testing
- injection of scAAV2-P1ND4v2 1.18x10e9 vg (Low),, injection of scAAV2-P1ND4v2 5.81 X10e9 vg (Med), injection of scAAV2-P1ND4v2 2.4 X10e10vg (High)
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- Byron Lam
Melanoma
Adjuvant Dabrafenib (GSK2118436) in Patients With Surgically Resected AJCC Stage IIIC Melanoma Characterized by a BRAFV600E/K Mutation
In this study, the investigator's want to find out if dabrafenib can stop stage IIIC melanoma from coming back after surgery.
- Trial name
- NCT01682213
- Testing
- Dabrafenib
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Memorial Sloan Kettering Cancer Center
Cystic Fibrosis
Study of the Effect of Ivacaftor on Lung Clearance Index in Subjects With Cystic Fibrosis and the G551D Mutation
The purpose of this study is to evaluate the effect of ivacaftor (VX-770) on lung clearance index (LCI) in subjects aged 6 years and older with cystic fibrosis (CF) who have the G551D-CFTR mutation on at least 1 allele.
- Trial name
- NCT01262352
- Testing
- Ivacaftor
- Where
- 8 sites in United States, Canada and 1 more
- Volunteers
- 21 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
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
Cystic Fibrosis (CF)
: TRANSITION: An Observational Study of Transition From Lumacaftor/Ivacaftor to Tezacaftor/Ivacaftor (Tez/Iva)
This study is a single center study of clinical and laboratory outcomes in patients ≥ 12 who transition from use of Orkambi to tez/iva.
- Trial name
- NCT03445793
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- National Jewish Health
Cystic Fibrosis
Study of Ataluren in Nonsense Mutation Cystic Fibrosis (ACT CF)
This is a Phase 3, international, multicenter, randomized, double-blind, placebo-controlled, efficacy and safety study of ataluren in patients with nonsense mutation cystic fibrosis (nmCF) not receiving chronic inhaled…
- Trial name
- NCT02139306
- Testing
- Ataluren (PTC124®)
- Where
- 88 sites in United States, Argentina and 14 more
- Volunteers
- 279 people
- Sponsor
- PTC Therapeutics
Amino Acid Metabolism, Inborn Errors
Ataluren for Nonsense Mutation Methylmalonic Acidemia
Methylmalonic acidemia (MMA) is a rare genetic disorder caused by mutations in the gene for mitochondrial enzyme methylmalonyl-CoA mutase (MCM) or in one of the genes for adenosylcobalamin (AdoCbl).
- Trial name
- NCT01141075
- Testing
- Ataluren
- Where
- 9 sites in Belgium, France and 4 more
- Volunteers
- 11 people
- Sponsor
- PTC Therapeutics
Ewing Sarcoma, PEComa
Nivolumab (Opdivo®) Plus ABI-009 (Nab-rapamycin) for Advanced Sarcoma and Certain Cancers
This study investigates the safety/toxicity and potential anti-tumor activity of sequential administration of nivolumab and escalating doses of the mammalian target of rapamycin (mTOR) inhibitor nab-rapamycin (ABI-009) in…
- Conditions
- Ewing Sarcoma, PEComa, Epithelioid Sarcoma, Desmoid Tumor
- Trial name
- NCT03190174
- Testing
- Nab-Rapamycin, Nivolumab
- Where
- United States
- Volunteers
- 34 people
- Sponsor
- Sarcoma Oncology Research Center, LLC
Cystic Fibrosis
A Study to Evaluate the Safety of Long-term Ivacaftor Treatment in Participants With Cystic Fibrosis Who Are Less Than 24 Months of Age at Treatment Initiation and Have an Approved Ivacaftor-Responsive Mutation
This is a Phase 3, 2-arm, multicenter study with an open-label ivacaftor arm and an observational arm to evaluate the safety and efficacy of long-term ivacaftor treatment in participants with cystic fibrosis (CF) who are <24…
- Trial name
- NCT03277196
- Testing
- IVA
- Where
- 29 sites in United States, Australia and 4 more
- Volunteers
- 86 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Muscular Dystrophy, Duchenne, Muscular Dystrophies
An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy
The primary objective of this study is to obtain long term safety data of ataluren in male participants with nonsense mutation dystrophinopathy (who participated and completed a previous Phase 3 study of ataluren…
- Conditions
- Muscular Dystrophy, Duchenne, Muscular Dystrophies, Muscular Disorders, Atrophic, Muscular Diseases
- Trial name
- NCT02090959
- Testing
- Ataluren
- Where
- 58 sites in United States, Australia and 17 more
- Volunteers
- 219 people
- Sponsor
- PTC Therapeutics
Cystic Fibrosis
A Study to Evaluate the Effect of VX-661 in Combination With Ivacaftor on Chest Imaging Endpoints in Subjects With Cystic Fibrosis, Homozygous for the F508del CFTR Mutation
The primary purpose of study is to evaluate the treatment effect of tezacaftor in combination with ivacaftor (TEZ/IVA) on chest imaging endpoints using low-dose computed tomography (LDCT) at Week 72, and to evaluate the safety of…
- Trial name
- NCT02730208
- Testing
- Tezacaftor/Ivacaftor, Ivacaftor
- Where
- 9 sites in Australia
- Volunteers
- 41 people
- Sponsor
- Vertex Pharmaceuticals Incorporated