Clinical trials: Mutations
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)
Familial Mediterranean Fever, MEFV Gene Mutation
Characterization of a Functional Test for Mediterranean Family Fever Screening - 2
Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease (prevalence: 1-5 / 10,000 inhabitants). It is caused by mutations in the MEFV gene, which encodes variants of the Pyrine inflammasome.
- Trial name
- DEPIST-FMF 2 (NCT04478409)
- Testing
- one additional blood sample during a planned blood test
- Where
- 8 sites in France
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Cystic Fibrosis
Study of Lumacaftor in Combination With Ivacaftor in Subjects 6 Through 11 Years of Age With Cystic Fibrosis, Homozygous for the F508del-CFTR Mutation
This is a Phase 3, 2-part (Part A and Part B), open-label, multicenter study to evaluate the pharmacokinetics, safety, and tolerability of lumacaftor in combination with ivacaftor in subjects with cystic fibrosis aged 6 to 11…
- Trial name
- NCT01897233
- Testing
- Lumacaftor, Ivacaftor
- Where
- 20 sites in United States, Canada
- Volunteers
- 62 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Monocarboxylate Transporter 8 Deficiency
Glycerol-Phenylbutyrate Treatment in Children With MCT Mutation (Allan-Herndon- Dudley Syndrome)
Rationale: Thyroid hormone (TH) is crucial for normal brain development. The transporter monocarboxlate transporter 8 (MCT8), located at various organs including brain neurons, is crucial for cellular transport of TH, mainly T3 .
- Trial name
- NCT05019417
- Testing
- Glycerol Phenylbutyrate 1100 MG/ML
- Where
- Israel
- Volunteers
- 6 people
- Sponsor
- Kaplan Medical Center
Colon Cancer Stage III
Lymph Node Ratio and Kras Mutation in R Colon Cancer
clinical impact of LN ratio with Kras expression in colon cancer
- Trial name
- NCT04342676
- Testing
- k ras, Panitumumab
- Where
- Egypt
- Volunteers
- 433 people
- Sponsor
- Mansoura University
Non-Small-Cell Lung Carcinoma
Frequency of EGFR Mutations in Latinos/Hispanics With Non-Small Cell Lung Cancer
Background: Research has shown that the Epidermal Growth Factor Receptor (EGFR) gene is an important target for personalized lung cancer treatment.
- Trial name
- NCT01255150
- Where
- 12 sites in United States, Bolivia and 3 more
- Volunteers
- 15 people
- Sponsor
- National Cancer Institute (NCI)
NSCLC, Stage I, NSCLC, Stage II
A Real-world Study of Adjuvant Therapy in Early Stage NSCLC With EGFR Mutation-Positive in China
This study is a prospective, national, multi-center, non-interventional study. The main purpose is to explore the initial adjuvant treatment pattern after radical resection for early-stage NSCLC patients with EGFR…
- Conditions
- NSCLC, Stage I, NSCLC, Stage II, NSCLC, Stage III
- Trial name
- ADDRESS (NCT04830826)
- Testing
- Surgeries
- Where
- 51 sites in China
- Volunteers
- 1,490 people
- Sponsor
- The First Affiliated Hospital of Guangzhou Medical University
OTOF Gene Mutation, DFNB9
A Phase I/II Clinical Trial With SENS-501 in Children Suffering From Severe to Profound Hearing Loss Due to Otoferlin (OTOF) Mutations
This study intends to assess safety, tolerability, and efficacy of SENS-501 in children between the ages of 6-31 months with pre-lingual hearing loss due to a mutation in the Otoferlin gene.
- Conditions
- OTOF Gene Mutation, DFNB9, Congenital Deafness, Hearing Disorders
- Trial name
- AUDIOGENE (NCT06370351)
- Testing
- SENS-501 administration
- Where
- 2 sites in Australia, France
- Volunteers
- 12 people
- Sponsor
- Sensorion
Acute Myeloid Leukemia, Blasts 20-30 Percent of Bone Marrow Nucleated Cells
Azacitidine and Enasidenib in Treating Patients With IDH2-Mutant Myelodysplastic Syndrome
This phase II trial studies the side effects and how well azacitidine and enasidenib work in treating patients with IDH2-mutant myelodysplastic syndrome.
- Conditions
- Acute Myeloid Leukemia, Blasts 20-30 Percent of Bone Marrow Nucleated Cells, Chronic Myelomonocytic Leukemia, IDH2 Gene Mutation
- Trial name
- NCT03383575
- Testing
- Azacitidine, Enasidenib, Quality-of-Life Assessment
- Where
- 3 sites in United States
- Volunteers
- 63 people
- Sponsor
- M.D. Anderson Cancer Center
BRAF V600E Mutation-positive Unresectable Advanced or Recurrent Solid Tumor
Special Drug Use-results Surveillance of Tafinlar/Mekinist
This is a prospective, multicenter, single-arm, non-interventional and observational J-PMS conducted by the central registration system and operated in Electronic data capture.
- Trial name
- NCT06262919
- Testing
- Tafinlar/Mekinist
- Where
- 70 sites in Japan
- Volunteers
- 110 people
- Sponsor
- Novartis Pharmaceuticals
Central Alveolar Hypoventilation Syndrome
PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in A Chinese Family: Presentations From Newborn to Adulthood
Detect the PHOX2B Mutation-confirmed congenital central hypoventilation syndrome
- Trial name
- NCT00652964
- Testing
- CPAP
- Where
- Taiwan
- Volunteers
- 20 people
- Sponsor
- National Taiwan University Hospital
Colo-rectal Cancer
Therascreen® KRAS RGQ PCR Kit
An interventional, prospective IVD device study for the testing of DNA extracted from tumor tissue biopsy samples from patients with Colorectal Cancer (CRC) who have previously tested positive for the KRAS G12C mutation for…
- Trial name
- NCT05347745
- Testing
- therascreen® KRAS RGQ PCR Kit
- Where
- United Kingdom
- Volunteers
- 219 people
- Sponsor
- QIAGEN Gaithersburg, Inc
Hyperekplexia
Effects of Mutations of the Glycine Gene Associated With Hyperekplexia on Central Pain Processing
Mutations in genes affecting pain transmission start to be known, the investigators are investigating a mutation in a glycine channel, which has an influence on pain modulation.
- Trial name
- NCT01476514
- Testing
- No intervention
- Where
- Switzerland
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Glioma, Recurrence
Vorasidenib Expanded Access Program
This is an expanded access program to provide vorasidenib for treatment of patients 12 years or older with IDH1- or IDH2-mutated glioma.
- Conditions
- Glioma, Recurrence, Disease Attributes, Pathologic Processes
- Trial name
- NCT05592743
- Testing
- Vorasidenib
- Sponsor
- Servier
Familial Hypercholesterolemia
Genetic Causes of Hypercholesterolaemia in the Emirati Population
The scientific aims of the project are to understand the genetic basis of Familial Hypercholesterolaemia (FH) in the Emirati population and estimate the overall prevalence of the disease.
- Trial name
- NCT03597958
- Testing
- Next generation sequencing (NGS)
- Where
- United Arab Emirates
- Volunteers
- 1,000 people
- Sponsor
- Imperial College London Diabetes Centre
Mitochondrial Myopathies, Mitochondrial DNA Mutation
Genomic Profiling of Mitochondrial Disease - Imaging Analysis for Precise Mitochondrial Medicine
This study is an observational longitudinal study involving the use of MRIs and video recordings taken at home of patients completing basic tasks.
- Conditions
- Mitochondrial Myopathies, Mitochondrial DNA Mutation, Mitochondrial Diseases, Chronic Progressive External Ophthalmoplegia With Myopathy
- Trial name
- NCT05012358
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Mayo Clinic
Astrocytoma, Astrocytic Tumors
Impact of IDH Mutation and Adjuvant Chemo(radio)therapy on Survival Outcome in Grade II/III Astrocytoma
This study looked at a type of brain tumor called astrocytoma and how specific genetic changes like IDH mutations affect patients outcomes.
- Conditions
- Astrocytoma, Astrocytic Tumors, Astrocytoma of Brain
- Trial name
- NCT06620926
- Testing
- IDH mutant-type, IDH wild-type
- Where
- Egypt
- Volunteers
- 811 people
- Sponsor
- asmaa salama ibrahim
DFNA9
Systematic Review of Phenotypical Characteristics of P51S COCH Mutation
Gene mutations account for more than 60% of congenital sensorineural hearing loss (SNHL) in Western Countries. Hereditary SNHL does not necessarily start at birth, however, as many causative gene mutations only begin to express…
- Trial name
- NCT03707756
- Sponsor
- Jessa Hospital
Cystic Fibrosis
A Study to Evaluate Efficacy and Safety of Ivacaftor in Subjects With Cystic Fibrosis Aged 3 Through 5 Years Who Have a Specified CFTR Gating Mutation
To evaluate the efficacy of ivacaftor treatment, as measured by lung clearance index (LCI), in subjects with cystic fibrosis (CF) who have a specified CF transmembrane conductance regulator (CFTR) gating mutation
- Trial name
- NCT02742519
- Testing
- ivacaftor
- Where
- 6 sites in Australia, Canada and 1 more
- Volunteers
- 14 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Shwachman-Diamond Syndrome, SDS
Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform
The Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program (SDS-GPS) is an opportunity for patients and their families - from anywhere in the world - to share their experience living with SDS via a safe…
- Conditions
- Shwachman-Diamond Syndrome, SDS, IBMF, Congenital Neutropenia
- Trial name
- SDS-GPS (NCT06999954)
- Where
- United States
- Volunteers
- 8,000 people
- Sponsor
- Shwachman-Diamond Syndrome Alliance Inc