Clinical trials: Mutation
Full Gene Sequences of c-KIT、PDGFRA and DOG1 Are Analyzed With the Screening-sequencing Approach, Investigate the Characteristics and Variations Associated With the Different Gene Mutations of c-KIT、PDGFRA and DOG1 in GIST Patients
Study on the Evolution of Genes Mutation Related With Gastrointestinal Stromal Tumors
Mutations of tumor-related genes are dynamic. Gastrointestinal stromal tumor cells often are obviously more invasive in case of recurrence.
- Trial name
- NCT01505205
- Volunteers
- 60 people
- Sponsor
- Guangxi Medical University
Hearing Loss, Pendred Syndrome
Clinical Phenotypic Characteristics of SC26A4
The presence or absence of SC26A4, whether combined with Mondini malformation, and patient age, are important factors affecting the degree of hearing loss in the Chinese population.
- Trial name
- NCT05970445
- Where
- China
- Volunteers
- 300 people
- Sponsor
- Chinese PLA General Hospital
Developmental Bone Disease, Dwarfism
Study of Skeletal Disorders and Short Stature
This study will determine the genes responsible for skeletal dysplasias (disorders of the skeleton) and short stature and define the range and type of medical problems they cause over time.
- Conditions
- Developmental Bone Disease, Dwarfism, Skeletal Dysplasias
- Trial name
- NCT00001754
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
NSCLC
An Open Label Study of BIBW 2992/Afatinib in Advanced Non-Small Cell Lung Cancer Patients Pre-treated With Erlotinib or Gefitinib
Advanced lung cancer (non-small cell lung cancer) with a mutation in the EGFR (epidermal growth factor receptor) gene, which have disease progression after treatment with an EGFR inhibitor (erlotinib or gefitinib), and have…
- Trial name
- NCT01932229
- Testing
- Afatinib treatment
- Where
- Israel
- Volunteers
- 20 people
- Sponsor
- Sheba Medical Center
Dravet Syndrome
Longitudinal Study of Phenotypic and Developmental Severity in Patients With Dravet Syndrome With SCN1A Gene Mutation
Dravet syndrome with SCN1A gene mutation is a developmental and epileptic encephalopathy characterized by treatment-resistant epilepsy and global developmental delay.
- Trial name
- LONG-DS (NCT07251673)
- Where
- France
- Volunteers
- 50 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Carcinoid Neuroendocrine Cancer
Study Investigating MEN1 and SDHD in Familial Carcinoid Tumors
There is a high incidence among the first degree relatives of the carcinoid patients, indicating the involvement of genetic components in its initiation and pathogenesis.
- Trial name
- NCT00672269
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Rutgers University
Best Vitelliform Macular Dystrophy, Retinitis Pigmentosa
Study of BEST1 Vitelliform Macular Dystrophy
The purpose of this study is to establish the natural history of of participants with BESTROPHIN 1 Vitelliform Macular Dystrophy.
- Trial name
- NCT05809635
- Testing
- Natural History Study
- Where
- 3 sites in United States, France and 1 more
- Volunteers
- 52 people
- Sponsor
- Columbia University
Stargardt Disease Type 1 (STGD1)
An Clinical Study Evaluating the Safety, Tolerability, and efficAcy of HG005 in StaRgardT Disease
Stargardt disease type 1 (STGD1) is a rare genetic eye condition that causes progressive vision loss, often beginning in childhood or adolescence.
- Trial name
- START (NCT07063251)
- Testing
- HG005
- Where
- China
- Volunteers
- 6 people
- Sponsor
- HuidaGene Therapeutics Co., Ltd.
Duchenne Muscular Dystrophy, Becker Muscular Dystrophy
Study of Ataluren (PTC124) in Nonambulatory Participants With Nonsense-Mutation-Mediated Duchenne/Becker Muscular Dystrophy (nmDMD/BMD)
Duchenne/Becker muscular dystrophy (DMD/BMD) is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function.
- Trial name
- NCT01009294
- Testing
- Ataluren, Chronic Corticosteroid Therapy
- Where
- 6 sites in United States, United Kingdom
- Volunteers
- 6 people
- Sponsor
- PTC Therapeutics
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
Pseudohermaphroditism
Mutation Analysis of 17βhydroxysteroid Dehydrogenase 3 Deficiency
To disclose the molecular pathology of our 3 families with 17βHSD3 deficiency.
- Trial name
- NCT00173654
- Testing
- blood drawing
- Where
- Taiwan
- Volunteers
- 20 people
- Sponsor
- National Taiwan University Hospital
High Myopia, Gene Mutations
TGFB1 And LAMA1 Gene Polymorphisms in High Myopia
The investigators aimed to investigate TGFB1 and LAMA1 gene polymorphisms in children with high myopia in order to determine the genetic basis of large myopic shifts causing severe visual impairment and complications.
- Trial name
- NCT03451877
- Testing
- TGFB1 AND LAMA1 GENE POLYMORPHISMS
- Volunteers
- 151 people, healthy volunteers welcome
- Sponsor
- Ege University
Cystic Fibrosis
A Phase 3 Study of VX-445 Combination Therapy in Cystic Fibrosis (CF) Subjects Heterozygous for F508del and a Gating or Residual Function Mutation (F/G and F/RF Genotypes)
This study will evaluate the efficacy, safety and pharmacodynamics of elexacaftor (ELX, VX-445) in triple combination (TC) with tezacaftor (TEZ) and ivacaftor (IVA) in subjects with cystic fibrosis (CF) who are heterozygous for…
- Trial name
- NCT04058353
- Testing
- ELX/TEZ/IVA, IVA, TEZ/IVA
- Where
- 93 sites in United States, Australia and 11 more
- Volunteers
- 271 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Endometrial Adenocarcinoma, Recurrent Uterine Corpus Carcinoma
Prognostic Biomarkers in Patients With Endometrial Cancer
This research study is studying prognostic biomarkers in tissue samples from patients with endometrial cancer. Studying samples of tissue from patients with cancer in the laboratory may help doctors learn more about changes that…
- Conditions
- Endometrial Adenocarcinoma, Recurrent Uterine Corpus Carcinoma, Stage I Uterine Corpus Cancer, Stage II Uterine Corpus Cancer
- Trial name
- NCT01208467
- Testing
- Laboratory Biomarker Analysis
- Where
- United States
- Volunteers
- 2,824 people
- Sponsor
- Gynecologic Oncology Group
Retinal Disease, Retinitis Pigmentosa
Trial of Subretinal Injection of (rAAV2-VMD2-hMERTK)
This study was to assess the safety of gene transfer via subretinal administration of rAAV2-VMD2-hMERTK in subjects with MERTK-associated retinitis pigmentosa (RP).
- Trial name
- NCT01482195
- Testing
- Subretinal administration of rAAV2-VMD2-hMERTKRecombinant Adeno-Associated Virus
- Where
- Saudi Arabia
- Volunteers
- 6 people
- Sponsor
- King Khaled Eye Specialist Hospital
Cystic Fibrosis
A Study to Evaluate the Safety and Efficacy of Long Term Treatment With VX-661 in Combination With Ivacaftor in Participants With Cystic Fibrosis Who Have an F508del-CFTR Mutation
This is a Phase 3, multicenter, open-label, 3-part rollover study in subjects with CF who are homozygous or heterozygous for the F508del-CFTR mutation and who participated in studies VX13-661-103 (Study 103, NCT02070744)…
- Trial name
- NCT02565914
- Testing
- TEZ/IVA, IVA
- Where
- 154 sites in United States, Australia and 14 more
- Volunteers
- 1,131 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Nonsene Mutation Duchenne Muscular Dystrophy
A Study to Evaluate the Safety and Pharmacokinetics of Ataluren in Participants From ≥6 Months to <2 Years of Age With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
This study is designed to evaluate safety, tolerability, and pharmacokinetics (PK) in male children with nmDMD aged ≥6 months to <2 years treated daily for 24 weeks with orally administered ataluren 10, 10, and 20…
- Trial name
- NCT04336826
- Testing
- Ataluren
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- PTC Therapeutics
MELAS Syndrome
Evaluating the Effectiveness of a Dichloroacetate in MELAS Syndrome
Patients with the MELAS syndrome experience devastating mental impairment. This study will evaluate the effectiveness of the drug dichloroacetate (DCA) to reduce the symptoms of MELAS.
- Trial name
- NCT00068913
- Testing
- Dichloroacetate
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Sarcoma
Studying Genes in Samples From Younger Patients With Rhabdomyosarcoma
RATIONALE: Studying samples of blood and tissue from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and find biomarkers related to cancer.
- Trial name
- NCT01585376
- Testing
- mutation analysis, nucleic acid sequencing, laboratory biomarker analysis
- Volunteers
- 58 people
- Sponsor
- Children's Oncology Group
Stargardt Disease
An Observational Study in Children and Adults With Stargardt Disease
This multicenter, prospective, longitudinal, observational study in approximately 80 subjects with Stargardt disease secondary to biallelic mutations in the ABCA4 gene (STGD1) aims to evaluate prognostic factors of disease…
- Trial name
- NCT06591806
- Where
- 2 sites in United States, Norway
- Volunteers
- 80 people
- Sponsor
- AAVantgarde Bio Srl