Clinical trials: Genetic Mutations
Breast Cancer, Ovarian Cancer
Targeted Next-generation Sequencing Panel for Identification of Germline Mutations in Early Onset Cancers With Sporadic or Hereditary Presentation
Despite relevant clinical and/or familial presentations suggesting a hereditary predisposition (early-onset, multiple primary tumors, familial aggregation), targeted genomic analysis based on the phenotype are often non…
- Conditions
- Breast Cancer, Ovarian Cancer, Colorectal Cancer, Pediatric Cancers
- Trial name
- PANEL (NCT02664389)
- Testing
- Genetic analysis
- Where
- France
- Volunteers
- 289 people
- Sponsor
- University Hospital, Rouen
HIV, Pregnancy
Maternal TDF and FTC to Reduce NNRTI Resistance Mutations After Intrapartum NVP
The purpose of this study is to determine whether the addition of tenofovir (TDF) and emtricitabine (FTC)to a standard PMTCT regimen containing single-dose nevirapine (NVP) can reduce the development of post-ingestion HIV…
- Trial name
- TD-2 (NCT00204308)
- Testing
- Combination tenofovir-emtricitabine
- Where
- 2 sites in Zambia
- Volunteers
- 400 people
- Sponsor
- University of North Carolina, Chapel Hill
Cystic Fibrosis
Study of Ivacaftor in Cystic Fibrosis Subjects Aged 6 to 11 Years With the G551D Mutation
The purpose of this study was to evaluate the efficacy and safety of ivacaftor in subjects with cystic fibrosis aged 6 to 11 years who have the G551D mutation in the cystic fibrosis transmembrane conductance regulator (CFTR)…
- Trial name
- ENVISION (NCT00909727)
- Testing
- Ivacaftor
- Where
- 29 sites in United States, Australia and 5 more
- Volunteers
- 52 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
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
Junctional Epidermolysis Bullosa
Optimizing IV Gentamicin in JEB
Herlitz junctional epidermolysis bullosa (H-JEB), an incurable and fatal inherited skin disease, is caused by loss-of-function mutations in LAMA3, LAMB3 and LAMC2.
- Trial name
- NCT04140786
- Testing
- Gentamicin Sulfate, Injectable
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- University of Southern California
OPA1 Gene Mutation, Optic Atrophy, Autosomal Dominant
A Longitudinal Natural History Study of OPA1-Associated Autosomal-Dominant Optic Atrophy
This prospective, monocenter, non-interventional observational study investigates the natural history as well as the clinical and genetic spectrum of OPA1-associated autosomal dominant optic atrophy.
- Trial name
- OPA-LONG (NCT07729982)
- Where
- Germany
- Volunteers
- 50 people
- Sponsor
- Ludwig-Maximilians - University of Munich
Muscular Dystrophy, Duchenne
Registry of Translarna (Ataluren) in Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
This study is being performed as a post-approval safety study (PASS), per the Pharmacovigilance Risk Assessment Committee (PRAC) of the European Medicines Agency (EMA), to gather data on Translarna (ataluren) safety…
- Trial name
- NCT02369731
- Where
- 71 sites in Austria, Brazil and 14 more
- Volunteers
- 316 people
- Sponsor
- PTC Therapeutics
Myopia
Myopia:the Role of Cone Opsin Mutations & Glasses That Control Axial Elongation
1. To determine the effect of spectacles with a red blocking filter on myopia progression in children. 2. To determine the effect of spectacles with a holographic diffuser that spreads incident light rays over an angle of 0.5…
- Trial name
- NCT01923675
- Testing
- Spectacles with red-blocking tint, Spectacles with holographic diffuser and color neutral tint, Spectacles with holographic diffuser and red-blocking tint
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Washington
Cystic Fibrosis
A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Ivacaftor in Subjects With Cystic Fibrosis Who Are Less Than 24 Months of Age and Have an Ivacaftor-Responsive CFTR Mutation
The purpose of this study was to evaluate the safety of ivacaftor treatment, and PK of ivacaftor and metabolites in participants with cystic fibrosis (CF) who are <24 months of age at treatment initiation and have an…
- Trial name
- NCT02725567
- Testing
- IVA
- Where
- 23 sites in United States, Australia and 3 more
- Volunteers
- 57 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Cancer
Study to Investigate Safety, Pharmacokinetic (PK), Pharmacodynamic (PD) and Clinical Activity of Trametinib in Subjects With Cancer or Plexiform Neurofibromas and Trametinib in Combination With Dabrafenib in Subjects With Cancers Harboring V600 Mutations
This was a 4-part (Part A, Part B, Part C and Part D), Phase I/IIa, multi-center, open label, study in pediatric subjects with refractory or recurrent tumors.
- Trial name
- NCT02124772
- Testing
- Trametinib, Dabrafenib
- Where
- 16 sites in United States, Australia and 3 more
- Volunteers
- 139 people
- Sponsor
- Novartis Pharmaceuticals
Familial Lipomatosis, Very Rare Dermatologic Diseases
Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing
The primary purpose of the protocol is to use next generation sequencing to identify pathogenic variants in genes involved in very rare skin diseases.
- Trial name
- DERMA-SEQ (NCT02509650)
- Where
- 2 sites in France
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Epilepsy
Impact of Thermocoagulation During Invasive EEG Monitoring in Children With Focal Drug-resistant Epilepsies
When focal epilepsies become drug-resistant, it could be eligible for cortical surgical resection. Therefore, an invasive EEG monitoring with depth electrodes is often needed during presurgical evaluation.
- Trial name
- COAG (NCT02886650)
- Testing
- Thermocoagulation
- Where
- France
- Volunteers
- 100 people
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
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
Hearing Disorder
Genetic Analyses of Nonsyndromic and Syndromic Deafness in Pakistan
Objective: One objective of this study is to genetically map and identify mutated genes for human hereditary hearing loss. A second objective is to study the function of these genes in the auditory system using mouse models.
- Trial name
- NCT00341874
- Where
- Pakistan
- Volunteers
- 18,009 people
- Sponsor
- National Institute on Deafness and Other Communication Disorders (NIDCD)
Ovarian Cancer
FLABRA: Frontline Approach for BRCA Testing in OC Treatment naïve Population. A LATIN AMERICA Epidemiologic Study
This study aims to answer very important questions regarding the prevalence of somatic and germline mutations (sBRCAm and gBRCAm) in a population of newly diagnosed ovarian cancer patients from Latin America.
- Trial name
- FLABRA (NCT02984423)
- Where
- 27 sites in Argentina, Brazil and 4 more
- Volunteers
- 471 people
- Sponsor
- AstraZeneca
Allan-Herndon-Dudley Syndrome
Thyroid Hormone Analog Therapy in MCT8 Deficiency: Triac Trial Patients
This therapeutical trial will be conducted in patients with the Allan-Herndon-Dudley Syndrome (AHDS), which is mutations in MCT8.
- Trial name
- NCT02060474
- Testing
- Triac
- Where
- Netherlands
- Volunteers
- 46 people
- Sponsor
- Erasmus Medical Center
X-Linked Hypophosphataemia
A UK Multicentre, Health-Related Quality of Life Study for Children and Adolescents With XLH
This study aims to provide Health-related Quality of Life (HRQoL) data from children and adolescents with growing skeletons in the United Kingdom (UK), including those treated with burosumab or alternative XLH treatment, as part…
- Trial name
- NCT04819490
- Where
- 6 sites in United Kingdom
- Volunteers
- 32 people
- Sponsor
- Kyowa Kirin Pharmaceutical Development Ltd
X-Linked Retinitis Pigmentosa
A Study Comparing Two Doses of AGTC-501 in Male Subjects With X-linked Retinitis Pigmentosa Caused by RPGR Mutations (SKYLINE)
This study will evaluate the safety and efficacy of a recombinant adeno-associated virus vector (rAAV2tYF-GRK1-RPGR) in patients with X-linked retinitis pigmentosa caused by RPGR mutations.
- Trial name
- NCT06333249
- Testing
- rAAV2tYF-GRK1-RPGR
- Where
- 6 sites in United States
- Volunteers
- 14 people
- Sponsor
- Beacon Therapeutics
Cystinosis
Use of Cysteamine in the Treatment of Cystinosis
Cystinosis is an inherited disease resulting in poor growth and kidney failure. There is no known cure for cystinosis, although kidney transplantation may help the renal failure and prolong survival.
- Trial name
- NCT00359684
- Testing
- Cysteamine
- Where
- United States
- Volunteers
- 330 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Nevi
Study to Test Genetic Alterations Among Different Dermoscopic Types of Melanocytic Nevi.
This project is a multicenter study in which we will investigate a dual concept of nevogenesis. Study location is the Department of Dermatology at the Medical University of Graz in collaboration with centers in Austria (Vienna)…
- Trial name
- NCT00422448
- Testing
- To test the frequency of BRAF and NRAS mutations among nevi
- Where
- Austria
- Volunteers
- 43 people, healthy volunteers welcome
- Sponsor
- Medical University of Graz