Clinical trials: Gene Mutations
DDX41 Gene Mutation
Study of Families With an Hemopathies Predisposition Related to the DDX41 Gene.
This is a multicenter, interventional, historico-prospective cohort pilot study aimed at specifying the phenotype of subjects carrying a constitutional familial DDX41 mutation, with a view to eventually publishing oncogenetic…
- Trial name
- LUCID (NCT06022016)
- Testing
- For each person (index case or related) included in this study:
- Where
- 5 sites in France
- Volunteers
- 910 people, healthy volunteers welcome
- Sponsor
- Institut Claudius Regaud
DPYD Gene Mutation, Gastrointestinal Cancer
Nudge Strategies for DPYD Testing in Patients With Gastrointestinal Cancers Treated With Fluoropyrimidines
5-fluorouracil and capecitabine, sometimes called 5-FU, fluoropyrimidines, or Xeloda are a type of chemotherapy. Many people have side effects from these drugs like nausea, diarrhea, or blood problems.
- Conditions
- DPYD Gene Mutation, Gastrointestinal Cancer, Health Care Seeking Behavior
- Trial name
- DPYD Nudges (NCT06559462)
- Testing
- Focus Group, Discrete Choice
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Abramson Cancer Center at Penn Medicine
Gene Mutation-Related Cancer, Genetic Predisposition
Genetic Information Assistant in Telegenetics
The goal of this clinical trial is to learn about different ways cancer genetic screening can be provided to rural communities in participants at high risk for certain cancers.
- Trial name
- NCT06089421
- Testing
- Genetic Information Assistant, Telegenetics with UVA genetic counselor
- Where
- United States
- Volunteers
- 96 people, healthy volunteers welcome
- Sponsor
- University of Virginia
Activating ALK Gene Mutation Negative, Activating EGFR Gene Mutation Negative
Genetics and Shared Decision Making in Improving Care for Patients With Stage IVA-C Non-small Cell Lung Cancer
This trial studies the use of genetics and shared decision making in improving care for patients with stage IVA-C non-small cell lung cancer.
- Conditions
- Activating ALK Gene Mutation Negative, Activating EGFR Gene Mutation Negative, Activating ROS1 Gene Mutation Negative, Health Care Provider
- Trial name
- NCT03944265
- Testing
- Counseling, Questionnaire Administration, Medical Chart Review
- Where
- United States
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Thomas Jefferson University
Parkinson Disease, LRRK2
LRRK2, GBA and Other Genetic Biomarkers in Eastern European (Ashkenazi) Jews With and Without Parkinson's Disease
Single site observational study focused on elucidating the genes and biochemical pathways involved in causing Parkinson disease.
- Conditions
- Parkinson Disease, LRRK2, GBA Gene Mutation
- Trial name
- BioPD (NCT04668898)
- Where
- United States
- Volunteers
- 203 people, healthy volunteers welcome
- Sponsor
- Icahn School of Medicine at Mount Sinai
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
Lynch Syndrome, Li Fraumeni Syndrome
Video Capsule Examination in Patients With Lynch Syndrome
Surveillance for colorectal cancer (CRC) in patients predisposed to develop CRC during their lifetime has been impacted by access to colonoscopy suites and endoscopy specialists in the past couple of years.
- Conditions
- Lynch Syndrome, Li Fraumeni Syndrome, PTEN Hamartoma Syndrome, FAP
- Trial name
- PILLCAM (NCT06712095)
- Testing
- Video capsule investigation
- Where
- United Kingdom
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Royal Marsden NHS Foundation Trust
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
Breast Carcinoma, Deleterious CDH1 Gene Mutation
Factors Influencing Cascade Testing Among Women With Hereditary Gynecological Cancers and Their Relatives
This trial collects information about factors that affect communication of genetic test results, decision-making, and access to genetic testing in women with hereditary gynecological cancers.
- Conditions
- Breast Carcinoma, Deleterious CDH1 Gene Mutation, Deleterious DICER1 Gene Mutation, Deleterious SMARCA4 Gene Mutation
- Trial name
- NCT04257045
- Testing
- Interview, Questionnaire Administration, Survey Administration
- Where
- 2 sites in United States
- Volunteers
- 46 people, healthy volunteers welcome
- Sponsor
- M.D. Anderson Cancer Center
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
Increased Oocyte Death, in Vitro Maturation
GREM1, HAS2 and PTGS2 Gene Expression Following the in Vitro Maturation (IVM)
Poor ovarian reserve (POR) is an adverse prognostic factor for In-Vitro Fertilization (IVF) success. Numerous established data showed low live birth rates per IVF cycle; 6 to 10%, including the usage of In-Vitro Maturation (IVM).
- Conditions
- Increased Oocyte Death, in Vitro Maturation, GREM1 Gene Mutation, Cumulus Cell
- Trial name
- NCT06315777
- Testing
- cumulus cell oocytes complex (COC) among women with poor ovarian reserve
- Where
- Malaysia
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- National University of Malaysia
Type 2 Diabetes Mellitus, Gene Polymorphisms
Effect of Mutations in T2DM Susceptibility Genes on the Expression of Susceptibility Genes in Patients With T2DM and Controls
In this study, investigators wanted to determine the effect of T2DM susceptibility gene mutations on self-expression. Participants (T2DM patients and controls) were recruited to identify genotypes and detect the levels of T2DM…
- Conditions
- Type 2 Diabetes Mellitus, Gene Polymorphisms, Genetic Mutations, Susceptibility, Genetic
- Trial name
- NCT06277466
- Testing
- Fresh normal pancreatic tissues or adjacent tissues of pancreatic cancer were collected from controls and T2DM patients without hypoglycemic drugs, Fresh blood samples were collected from healthy subjects and T2DM patients without hypoglycemic drugs
- Where
- China
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- The Affiliated Hospital of Xuzhou Medical University
RAS Mutation, Ras (Kras or Nras) Gene Mutation
Leflunomide or Combination of MEK Inhibitor and Hydroxychloroquine for Refractory Patients With RAS Mutations
There is a huge variety of nucleotide substitutions that activate RAS. The search for new "universal" drugs for the RAS pathway that either interfere with RAS upregulation upstream in the signaling pathway or offset the…
- Conditions
- RAS Mutation, Ras (Kras or Nras) Gene Mutation, Colorectal Cancer Recurrent, Pancreas Cancer
- Trial name
- NТО-RAS (NCT06229340)
- Testing
- Leflunomide, The combination of MEK inhibitor + hydroxychloroquine( plaquenil) ± bevacizumab
- Where
- Russia
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- N.N. Petrov National Medical Research Center of Oncology
Adnexal Mass, Germline BRCA1 Gene Mutation
Multifactorial Risk Assessment for Breast & Ovarian Cancer Risk Detection
The objective of this project is to validate a next-generation assay that utilizes both the protein biomarkers of our already established ovarian cancer risk assessment combined with a molecular profile in both germline and early…
- Conditions
- Adnexal Mass, Germline BRCA1 Gene Mutation, Germline BRCA2 Gene Mutation, Hereditary Breast and Ovarian Cancer
- Trial name
- OVA360 (NCT04668521)
- Testing
- OVA360
- Where
- United States
- Volunteers
- 215 people, healthy volunteers welcome
- Sponsor
- Aspira Women's Health
Renal Tumor Histology, Kidney Cancer
Frequency, Clinical Phenotype and Genetic Analysis of Heritable Kidney Cancer Syndromes
This study will investigate the frequency, clinical phenotype, management and molecular genetic defects of heritable kidney cancer syndromes. Families with kidney cancer with known or suspected genetic basis will be enrolled.
- Conditions
- Renal Tumor Histology, Kidney Cancer, Renal Cell Carcinoma, Familial Renal Cancer
- Trial name
- NCT05534854
- Testing
- Gene test
- Where
- China
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- RenJi Hospital
Parkinson Disease, GBA Gene Mutation
Evaluation of the Frequency and Severity of Sleep Abnormalities in Patients With Parkinson's Disease
Sleep disturbances are one of the most common non-motor symptoms in PD, with an estimated prevalence as high as 40-90%. Sleep disturbances (particularly sleep duration, sleep fragmentation, Rapid Eye Movement (REM) sleep behavior…
- Conditions
- Parkinson Disease, GBA Gene Mutation, Leucine-rich Repeat Kinase 2 (LRRK2) Gene Mutation
- Trial name
- NCT04387812
- Testing
- Xtrodes home PSG system
- Where
- Israel
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- Tel-Aviv Sourasky Medical Center
Patients With Parkinson's Disease (PD) Caused by the p.Gly2019Ser (G2019S) Pathogenic Mutation of the Leucine-Rich Repeat Kinase 2 (LRRK2) Gene
A Natural History Study of Patients With G2019S LRRK2 Parkinson's Disease
To characterize using a participant centered decentralized (at home) study featuring wearable technology and telemedicine to study disease change over time in patients with PD caused by the G2019S mutation in the LRRK2 gene and…
- Trial name
- NCT05349019
- Testing
- Observational
- Where
- United States
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- Escape Bio, Inc.
Cancer of Unknown Primary, Bone Cancer Metastatic
Tislelizumab Combined With Chemotherapy in the Treatment of Bone Metastases of Unknown Primary
Through scientific and rigorous design, implementation, follow-up and statistics, the sponsor aims to explore the clinical efficacy and safety of Tislelizumab combined with chemotherapy (platinum + paclitaxel) in the treatment of…
- Conditions
- Cancer of Unknown Primary, Bone Cancer Metastatic, Tislelizumab, Gene Mutation-Related Cancer
- Trial name
- NCT05241132
- Testing
- Tislelizumab plus chemotherapy
- Where
- China
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- Wei Xu
Cancer Gene Mutation
Telephone Versus In-person Post-test Cancer Genetic Counseling
The purpose of the GEO-STAR randomized non-inferiority trial is to compare the outcome of post-test telephone cancer genetic counseling with standard in-person cancer genetic counseling.
- Trial name
- GEO-STAR (NCT04759352)
- Testing
- Post-test genetic counseling delivered by telephone
- Where
- Italy
- Volunteers
- 724 people, healthy volunteers welcome
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Laminopathy, Lamin A/C Gene Mutation
Subanalysis in Patients With CARDIoLAMinopathy Enrolled to REPORT-CCM Registry
Observational, retrospective registry with acute and chronic endpoints
- Conditions
- Laminopathy, Lamin A/C Gene Mutation, Heart Failure
- Trial name
- CARDILAM-CCM (NCT04904393)
- Testing
- Implant of the device for Cardiac Contractility Modulation (CCM) Therapy
- Where
- Italy
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Monaldi Hospital