Clinical trials: Genetic Mutation
Xanthomatosis, Cerebrotendinous
A Study on the Prevalence of Mutation of Cerebrotendinous Xanthomatosis (CTX)
This is a prospective, non-drug epidemological cohort study aimed to investigate the relatives of these cases with CTX-specific gene mutation and clinical features of CTX disease over CTX index cases diagnosed with CTX disease…
- Trial name
- F-GENE (NCT04218006)
- Testing
- Mutation Analysis
- Where
- Turkey (Türkiye)
- Volunteers
- 800 people, healthy volunteers welcome
- Sponsor
- TRPHARM
Mutation, Obesity
Identification and Metabolic Characterization of a Cohort of Human Subjects With Mutations in PRDM-16
Chinese male subjects will be invited to participate in a research study of brown fat, a special tissue in the body that is designed to burn energy to make heat.
- Conditions
- Mutation, Obesity, Dyslipidemia, Diabetes
- Trial name
- NCT02808715
- Testing
- Blood Sample Collection
- Volunteers
- 247 people, healthy volunteers welcome
- Sponsor
- National Heart Centre Singapore
Alzheimer's Disease
Dominantly Inherited Alzheimer Network (DIAN)
The purpose of this study is to identify potential biomarkers that may predict the development of Alzheimer's disease in people who carry an Alzheimer's mutation.
- Trial name
- DIAN (NCT00869817)
- Where
- 26 sites in United States, Argentina and 11 more
- Volunteers
- 700 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Breast Cancer, BRCA1 Mutation
IMpact of Breast cAncer Gene Status on Survival in Adjuvant Breast Cancer (IMBASSA)
Relationship between the presence of the BRCA mutation (BReast Cancer) and outcomes is unclear in high-risk early breast cancers (BC).
- Conditions
- Breast Cancer, BRCA1 Mutation, BRCA2 Mutation
- Trial name
- IMBASSA (NCT04012229)
- Testing
- BRCA mutation
- Where
- France
- Volunteers
- 2,295 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Besancon
Alzheimers Disease, Dementia
Dominantly Inherited Alzheimer Network Trial: An Opportunity to Prevent Dementia. A Study of Potential Disease Modifying Treatments in Individuals at Risk for or With a Type of Early Onset Alzheimer's Disease Caused by a Genetic Mutation.
The purpose of this study is to assess the safety, tolerability, biomarker and cognitive efficacy of investigational products in subjects who are known to have an Alzheimer's disease-causing mutation by determining if treatment…
- Conditions
- Alzheimers Disease, Dementia, Alzheimers Disease, Familial
- Trial name
- DIAN-TU (NCT04623242)
- Testing
- Gantenerumab, Solanezumab
- Where
- 25 sites in United States, Australia and 6 more
- Volunteers
- 194 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Von Hippel-Lindau Disease, Hereditary Leiomyomatosis and Renal Cell Cancer
MyVHL: Patient Natural History Study
MyVHL is a multi-patient database which helps researchers identify patterns across VHL patients. MyVHL provides you -and researchers -with more complete information about VHL, like how your lifestyle, medications, and other…
- Conditions
- Von Hippel-Lindau Disease, Hereditary Leiomyomatosis and Renal Cell Cancer, Birt-Hogg-Dube Syndrome, SDHB Gene Mutation
- Trial name
- MyVHL (NCT03749980)
- Where
- United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Joshua Mann, MPH
Colorectal Cancer
Identification of New Colorectal Cancer Genes
The purpose of this study is to define new genes for family risks of developing colon cancer.
- Trial name
- NCT00582335
- Where
- United States
- Volunteers
- 337 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Autism Spectrum Disorder
Study of the Genetic Factors Involved in Autism and Related Disorders
The main objective of the study is to define, for Autism Spectrum Disorder, the extent of genetic variation in synaptic pathways that may be targeted for therapeutic development.
- Trial name
- Gene&autism (NCT04727489)
- Testing
- DNA from subjects will be stored in the biobank of our study.
- Where
- 6 sites in France
- Volunteers
- 3,800 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Somatic Mutation
Linking Somatic Mutation Rate With Baseline Exposure in East Palestine
The goal of this study is to This research team is conducting this study to develop methods to measure the biological impact of exposure to the chemicals released following the February 3, 2023 train derailment on residents of…
- Trial name
- NCT06357845
- Testing
- Survey, Biological specimen collection, Communications about study updates and future research opportunities
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Case Comprehensive Cancer Center
Advanced Lymphoma, Advanced Malignant Solid Neoplasm
Testing BVD-523FB (Ulixertinib) as Potentially Targeted Treatment in Cancers With Genetic Changes (MATCH - Subprotocol Z1L)
This phase II MATCH treatment trial tests how well BVD-523FB (ulixertinib) works in treating patients with cancer that has certain genetic changes.
- Conditions
- Advanced Lymphoma, Advanced Malignant Solid Neoplasm, Refractory Lymphoma, Refractory Malignant Solid Neoplasm
- Trial name
- NCT06400225
- Testing
- Biopsy Procedure, Biospecimen Collection, Computed Tomography
- Where
- United States
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Parkinson Disease, Gaucher Disease
Drug Discovery for Parkinson's With Mutations in the GBA Gene
The New York Stem Cell Foundation (NYSCF) Research Institute is performing this research to accelerate Parkinson's disease research and drug development by using cells from the body (such as skin or blood cells) to make stem…
- Conditions
- Parkinson Disease, Gaucher Disease, Healthy, GBA Gene Mutation
- Trial name
- NCT05536388
- Testing
- Biological Sample Collection
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- New York Stem Cell Foundation Research Institute
Postoperative Complications, Recurrence
Surgical and Oncologic Outcomes After Robotic Nipple Sparing Mastectomy and Immediate Reconstruction
Robotic mastectomy with immediate reconstruction was introduced by Toesca et al. in 2015. Since then, several studies have reported the safety and feasibility of robotic nipple-sparing mastectomy with immediate reconstruction.
- Conditions
- Postoperative Complications, Recurrence, Breast Neoplasms, Breast Cancer
- Trial name
- SORI (NCT04108117)
- Testing
- Robotic nipple sparing mastectomy
- Where
- South Korea
- Volunteers
- 659 people, healthy volunteers welcome
- Sponsor
- Severance Hospital
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Melanoma, BRAF V600 Mutation
Relative Bioavailability of Binimetinib 3 x 15 mg and 45 mg Formulations
The current commercially available MEKTOVI® (binimetinib) 15 mg tablets are provided as immediate release film-coated tablets for oral administration.
- Conditions
- Melanoma, BRAF V600 Mutation, Unresectable Melanoma, Metastatic Melanoma
- Trial name
- NCT05103891
- Testing
- Binimetinib Oral Tablet
- Where
- France
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Pierre Fabre Medicament
Ovarian Carcinoma
Prophylactic Salpingectomy With Delayed Oophorectomy
The goal of this clinical research study is to compare ovarian cancer screening, risk-reducing salpingo-oophorectomy (RRSO), and prophylactic salpingectomy with delayed oophorectomy (PSDO).
- Trial name
- NCT01907789
- Testing
- Ovarian Cancer Screening, Prophylactic Salpingectomy with Delayed Oophorectomy, Risk-Reducing Salpingo-Oophorectomy
- Where
- 2 sites in United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- M.D. Anderson Cancer Center
HER2-positive Breast Cancer
PIK3CA in HER2+ BC and pCR Trial
The goal of the study is to evaluate the impact of somatic PI3KCA mutations on pCR in HER2-positive early breast cancer in real life. The main question it aims to answer iS.
- Trial name
- NCT05750693
- Testing
- PIK3CA analysis
- Where
- Italy
- Volunteers
- 58 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Phase 1 Study to Evaluate the Safety and Tolerability of Intravenously Administered PYC-003
This is a Phase 1, First-in-Human study to evaluate the safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PD) and immunogenicity of PYC-003 in healthy adult participants and adult participants with confirmed PKD1…
- Trial name
- NCT06714006
- Testing
- PYC-003
- Where
- 12 sites in Australia, Hong Kong and 1 more
- Volunteers
- 166 people, healthy volunteers welcome
- Sponsor
- PYC Therapeutics
Altitude Intolerance, High-Altitude Illness
Relationship Between Succinate Dehydrogenase Mutations and High-Altitude Illness
This study is is the first step of a full study named CHEMOGENE because it explores the genetic determinant of an alteration of the chemoreflex.
- Trial name
- NCT00202683
- Where
- France
- Volunteers
- 83 people, healthy volunteers welcome
- Sponsor
- Société Française de Cardiologie
Breast Cancer, BRCA1 Mutation
Decision Support for BRCA Testing in Ethnically Diverse Women
The objective of this study is to expand genetic testing for hereditary breast and ovarian cancer syndrome to a broader population of high-risk women by prompting appropriate referrals from the primary care setting with the use…
- Conditions
- Breast Cancer, BRCA1 Mutation, BRCA2 Mutation, Ovarian Cancer
- Trial name
- NCT03470402
- Testing
- RealRisks, BNAV, iNYP
- Where
- United States
- Volunteers
- 276 people, healthy volunteers welcome
- Sponsor
- Columbia University
Spinal Muscular Atrophy
Characterization of the Clinical-epidemiological Profile of Patients With SMA5q Types II and III: Observational Study
This study aims to characterize the clinical-epidemiological profile and baseline characteristics of patients with spinal muscular atrophy (SMA) 5q types II and III in follow-up at the Brazilian Unified Public Health System…
- Trial name
- NCT04404764
- Testing
- Nusinersen Injectable Product
- Where
- 9 sites in Brazil
- Volunteers
- 155 people, healthy volunteers welcome
- Sponsor
- Hospital Israelita Albert Einstein