Clinical trials: Mutations
Study Genetic Basis of Infantile Onset Diabetes Mellitus
Gene Study for Infantile Onset Diabetes
Diabetes mellitus is a group of metabolic diseases characterized by chronic hyperglycemia resulting from defects in insulin secretion, insulin action, or both.
- Trial name
- NCT03169413
- Testing
- Human Leucocytic antigen typing and mutation of adenosine triphosphate sensitive K channel gene in diabetic patients diagnosed under the age of one year.
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Assiut University
Treatment of Congenital Hearing Loss Secondary to Biallelic Mutations of the Otoferlin Gene (OTOF)
A Clinical Trial of EHT102 Injection in Pediatric Patients With Biallelic hOTOF Mutations
This study is a multicenter, single-arm, open-label Phase I/II clinical trial, which is designed to evaluate the safety, tolerability and efficacy of EHT102 injection in treating congenital hearing loss secondary to biallelic…
- Trial name
- NCT07288580
- Testing
- EHT102 Injection
- Where
- China
- Volunteers
- 30 people
- Sponsor
- Shanghai Euhearing Therapeutics Co., Ltd
NSCLC
A Retrospective Molecular Epidemiology Study in Singapore Patients With Advanced Non Small Cell Lung Cancer (NSCLC) of Adenocarcinoma Histology to Assess Epidermal Growth Factor Receptor (EGFR) Mutation Status
To determine EGFR mutation status in patients with advanced stage adenocarcinoma NSCLC. To determine the association between EGFR mutation status and demographic data in advanced stage adenocarcinoma NSCLC patients.
- Trial name
- NCT01100827
- Testing
- EGFR mutation status in patients
- Where
- Singapore
- Sponsor
- National University Hospital, Singapore
Hearing Impairment
Epidemiology of Non-syndromic Dominant Deafness
Hearing impairment is a common disorder that affects at least 7% of individuals in our countries. Even the causes of hearing impairment are numerous, genetic causes represent the main factor of sensorineural deafness.
- Trial name
- SURDOM (NCT01150305)
- Testing
- blood sample
- Where
- France
- Volunteers
- 183 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Cystinosis
European Cystinosis Cohort 2
This European observational cohort follows patients with cystinosis, a rare lysosomal storage disease caused by CTNS mutations leading to cystine accumulation and multisystem involvement.
- Trial name
- RaDiCo-ECYSCO2 (NCT07680751)
- Where
- France
- Volunteers
- 250 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Tuberous Sclerosis Complex
Dermatologic Patterns of Tuberous Sclerosis Patients and Somatic Mutation Relationship
Tuberous Sclerosis is a rare genetic disorder that affects about one in 15,000 individuals. It is part of the phacomatoses: a germline mutation of the gene Tuberous Sclerosis Complex 1 (TSC1) or TSC2 causes a protein dysfunction…
- Trial name
- NCT04112537
- Where
- France
- Volunteers
- 90 people
- Sponsor
- University Hospital, Montpellier
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
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
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
Ovarian, Peritoneal, Fallopian Tube Cancer, BRCAm+ in Russia
OVArian Cancer Non-Interventional Study - OVATAR
This is a multicentre, non-interventional, prospective study to be carried out in representative hospitals in order to assess 1st line treatment management and diagnostic approaches applied to ovarian, peritoneal and fallopian…
- Trial name
- OVATAR (NCT02122588)
- Where
- 22 sites in Russia
- Volunteers
- 503 people
- Sponsor
- AstraZeneca
KMT2A-rearranged, NPM1-mutant Refractory or Relapsed AML
Ziftomenib + Mezigdomide in Adolesc. and Adults w/ R/R AML
The purpose of this study is to evaluate the safety and tolerability of mezigdomide in combination with ziftomenib in adolescent and adult participants with either KMT2A-rearranged (KMT2A-r) or NPM1-mutant relapsed or refractory…
- Trial name
- NCT07355335
- Testing
- Ziftomenib, Mezigdomide
- Where
- 2 sites in United States
- Volunteers
- 24 people
- Sponsor
- Massachusetts General Hospital
Cystic Fibrosis
A Study to Evaluate Efficacy and Safety of TEZ/IVA in Subjects Aged 6 Through 11 Years With Cystic Fibrosis
This study will evaluate the efficacy of tezacaftor in combination with ivacaftor (TEZ/IVA) in participants with cystic fibrosis (CF) aged 6 through 11 years, who are homozygous for the F508del mutation (F/F) or heterozygous for…
- Trial name
- NCT03559062
- Testing
- TEZ/IVA, IVA
- Where
- 27 sites in Australia, Belgium and 7 more
- Volunteers
- 67 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Hypertrophic Cardiomyopathy, Left Ventricular Hypertrophy
Factors Contributing to Increased Left Ventricle Size in Patients With Abnormally Enlarged Hearts
The human heart is divided into four chambers. One of the four chambers, the left ventricle, is the chamber mainly responsible for pumping blood out of the heart into the circulation.
- Trial name
- NCT00001878
- Where
- United States
- Volunteers
- 175 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
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
Pompe Disease
Screening Protocol to Evaluate Acid Alpha-Glucosidase (GAA) Activity and GAA Gene Mutations in Patients With Late Onset Pompe Disease
Pompe disease (also known as glycogen storage disease type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA).
- Trial name
- NCT00113035
- Where
- 5 sites in United States
- Volunteers
- 60 people
- Sponsor
- Genzyme, a Sanofi Company
Cystic Fibrosis
Trikafta in Cystic Fibrosis Patients
This clinical study will enroll 42 participants without the F508del mutation, carrying partial function or N1303K mutations not approved for Trikafta, and who are not expected to be approved for CFTR modulator treatment in the…
- Trial name
- NCT03506061
- Testing
- Trikafta
- Where
- 2 sites in United States
- Volunteers
- 42 people
- Sponsor
- Emory University
Xerocytosis, Phenotype
The Study of the Phenotype of Hereditary Xerocytosis
Hereditary xerocytosis is a dominant red blood cell membrane disorder characterized by an increased leakage of potassium from the interior to the exterior of the red blood cell membrane, leading to water loss, red cell…
- Conditions
- Xerocytosis, Phenotype, Genotype
- Trial name
- EPIOX (NCT06892171)
- Testing
- Blood sample
- Where
- France
- Volunteers
- 20 people
- Sponsor
- Centre Hospitalier Universitaire, Amiens
Grade 2 Glioma, Residual Glioma
Study of Vorasidenib (AG-881) in Participants With Residual or Recurrent Grade 2 Glioma With an IDH1 or IDH2 Mutation (INDIGO)
Study AG881-C-004 is a phase 3, multicenter, randomized, double-blind, placebo-controlled study comparing the efficacy of vorasidenib to placebo in participants with residual or recurrent Grade 2 glioma with an IDH1 or IDH2…
- Conditions
- Grade 2 Glioma, Residual Glioma, Recurrent Glioma
- Trial name
- NCT04164901
- Testing
- Vorasidenib
- Where
- 84 sites in United States, Canada and 9 more
- Volunteers
- 331 people
- Sponsor
- Institut de Recherches Internationales Servier
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
Methylmalonic Acidemia (MMA)
A Prospective Study of Pediatric Participants up to 16 Years of Age With Methylmalonic Acidemia (MMA) Due to Mutations in the MMUT Gene
Methylmalonic Acidemia (MMA) is a severe and rare condition that affects how the body turns food into energy. In people with MMA, the body is missing or has a very low activity of a specific protein (an enzyme called…
- Trial name
- NCT07432880
- Where
- 8 sites in United States, Italy and 2 more
- Volunteers
- 30 people
- Sponsor
- Genespire Srl