Clinical trials: Genetic Mutation
Li-Fraumeni Syndrome, Li-Fraumeni-Like Syndrome
Li-Fraumeni Syndrome/TP53 Biobank
Li-Fraumeni Syndrome (LFS) and Li-Fraumeni-like (LFL) Syndrome are cancer predisposition syndromes due to germline aberrations in the TP53 gene.
- Trial name
- NCT04367246
- Testing
- No Intervention
- Where
- 2 sites in United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Abramson Cancer Center at Penn Medicine
Cardiovascular Disease, Arterial Stiffness
Natural History Study of CADASIL
Background: CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy) is a genetic disorder. It causes narrowing of the small blood vessels and can lead to strokes and dementia.
- Conditions
- Cardiovascular Disease, Arterial Stiffness, Germline Mutation in the NOTCH 3 Gene, Pathogenesis of CADASIL
- Trial name
- NCT05072483
- Testing
- MRI
- Where
- United States
- Volunteers
- 155 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Melanoma, BRAF V600 Mutation
Bioequivalence 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
- NCT05810740
- Testing
- Binimetinib 15 MG, Binimetinib 45 MG
- Where
- France
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- Pierre Fabre Medicament
Autosomal Dominant Alzheimers Disease, Early Onset Alzheimer Disease
A Study of Donanemab, RG6289, or the Combination of Donanemab and RG6289 in Presenilin 1 (PSEN1) E280A Mutation Carriers for the Treatment of Autosomal-Dominant Alzheimer's Disease
The study will be conducted in 2 blinded parts (Part 1 and Part 2). In Part 1, study participants who are mutation carriers will receive active donanemab and non-mutation carriers will receive placebo-donanemab for up to 18…
- Conditions
- Autosomal Dominant Alzheimers Disease, Early Onset Alzheimer Disease, Alzheimers Disease
- Trial name
- NCT06996730
- Testing
- Donanemab, RG6289
- Where
- Colombia
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- Banner Health
BRCA1 Mutation, Breast Cancer
Studying the Effect of Denosumab on Preventing Breast Cancer in Women With a BRCA1 Germline Mutation
This phase III trial compares denosumab to placebo for the prevention of breast cancer in women with a BRCA1 germline mutation. A germline mutation is an inherited gene change which, in the BRCA1 gene, is associated with an…
- Conditions
- BRCA1 Mutation, Breast Cancer, Breast Diseases, Breast Neoplasms
- Trial name
- BRCA-P (NCT04711109)
- Testing
- Denosumab, Quality-of-Life Assessment
- Where
- 47 sites in United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Alliance for Clinical Trials in Oncology
Romano-Ward Syndrome, Long QT Syndrome
Evaluation of the Effects of KCNQ1 Mutation on Insulin Tolerance and Obsessive Compulsive Features in Long QT Romano-Ward Syndrome Patients.
The objectives of the study are to investigate if KCNQ1 mutation in Romano-Ward long QT patients can be associated with changes in insulin regulation and with psychological features of compulsivity, impulsivity and behavioural…
- Conditions
- Romano-Ward Syndrome, Long QT Syndrome, Compulsive Behavior, Healthy Individuals
- Trial name
- PRIME (NCT04715256)
- Testing
- Cognitive assessment of obsessive-compulsive and impulsive behaviours, Genomic analysis, Glucoregulation assessment
- Where
- 2 sites in France
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Biotrial
Non-small Cell Lung Cancer
A Prospective Study of Constructing Immune Repertoire to Monitor the Therapeutic Effect in NSCLC Patients
This study is designed to evaluate the untreated NSCLC patients. After participants have accepted chemotherapy, radiotherapy, and immunotherapy, the investigators used the next generation sequence technology (NGS) to construct…
- Trial name
- NCT03373955
- Testing
- pembrolizumab
- Where
- China
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Sichuan University
Li-Fraumeni Syndrome, Hereditary Cancer Syndromes
Biomarker Monitoring in TP53 Mutation Carriers
Purpose This study is an 'N-of-one' observational study focusing on individuals with a hereditary predisposition to cancer due to a genetic mutation in the TP53 gene.
- Conditions
- Li-Fraumeni Syndrome, Hereditary Cancer Syndromes, TP53 Gene Germline Mutation Carrier
- Trial name
- NCT02289326
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Scripps Health
Advanced Non-small Cell Lung Cancer, EGFR Mutation
A Study to Learn About How BAY2927088 Affects the Level of Dabigatran or Rosuvastatin in the Blood When These Drugs Are Taken Together in Healthy Participants
Researchers are looking for a better way to treat people who have advanced non-small cell lung cancer (NSCLC) with specific genetic changes called epidermal growth factor receptor (EGFR) and human epidermal growth factor receptor…
- Conditions
- Advanced Non-small Cell Lung Cancer, EGFR Mutation, HER2 Mutation, Healthy Volunteers
- Trial name
- NCT06329895
- Testing
- BAY2927088, Dabigatran etexilate, Rosuvastatin
- Where
- United Kingdom
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Bayer
Ovarian Epithelial Cancer, Carcinoma in Situ
Lavage of the Uterine Cavity for the Diagnosis of Serous Tubal Intraepithelial Carcinoma
The current study aims at answering the scientific question, whether exfoliated cells from STICs get transported into the uterine cavity via the fallopian tube, and whether it is possible to detect those cells in the lavage fluid…
- Conditions
- Ovarian Epithelial Cancer, Carcinoma in Situ, Ovarian Cancer
- Trial name
- LUSTIC (NCT02039388)
- Testing
- Lavage of the Cavum uteri and proximal Fallopian tubes, performed in the luteal phase of the female cycle
- Where
- 14 sites in Austria, Belgium and 6 more
- Volunteers
- 701 people, healthy volunteers welcome
- Sponsor
- Medical University of Vienna
Cancer
AssesSment of Early-deteCtion basEd oN liquiD Biopsy in PANCEATIC Cancer (ASCEND-PANCREATIC)
ASCEND-PANCREATIC is a prospective, multi-omics, observational study aimed at early detecting pancreatic cancer by combined assays for biomarkers of cfDNA methylation, circulating tumor DNA (ctDNA) mutation, serum protein markers…
- Trial name
- NCT05556603
- Where
- 3 sites in China
- Volunteers
- 7,062 people, healthy volunteers welcome
- Sponsor
- Ruijin Hospital
Congenital Hypothyroidism
TG Gene Mutations and Congenital Hypothyroidism
The aim of this study was to identify mutations in the thyroglobulin gene that might be present in patients with fetal goiter and congenital goiter hypothyroidism.
- Trial name
- NCT00493103
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Sao Paulo
Frontotemporal Dementia, Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
Amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD) is a rare clinical entity, in which both disorders are variably associated in the same patient or within the family.
- Trial name
- NCT00159198
- Where
- 15 sites in France
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Colorectal Cancer, Adenomatous Polyps
Multitarget Stool FIT-DNA Study for Colorectal Cancer Early Screening in China
The primary objective is to determine the diagnostic sensitivity and specificity of the newly developed multitarget FIT-DNA Colorectal Cancer (CRC) screening test (ColoClear) for detecting advanced neoplasia (including colorectal…
- Conditions
- Colorectal Cancer, Adenomatous Polyps, Adenoma, Advanced Adenoma
- Trial name
- CLEAR-C (NCT04287335)
- Testing
- Multitarget stool FIT-DNA test - ColoClear, FIT, Colonoscopy
- Where
- 8 sites in China
- Volunteers
- 4,758 people, healthy volunteers welcome
- Sponsor
- Zhejiang University
Familial Mediterranean Fever
Inflammatory Proteins in Familial Mediterranean Fever During Attack and Remission
Familial Mediterranean fever (FMF) is a genetic disease, caused by mutations in the FMF gene, entitled MEFV. The disease is characterized by painful attacks of inflammation in sites lined by serous membranes (e.g.
- Trial name
- NCT00323440
- Where
- Israel
- Volunteers
- healthy volunteers welcome
- Sponsor
- Sheba Medical Center
Lamin A/C Gene Mutation, Dilated Cardiomyopathy, Familial
The Deep Phenotype of Lamin A/C Cardiomyopathy
This study seeks to discover clinically useful tests to improve the diagnosis of a rare and serious heart muscle disease caused by mutations in a gene called 'Lamin'.
- Trial name
- NCT03860454
- Where
- 6 sites in United Kingdom
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- University College, London
Hypertension
The Chinese Mutation Hotspot of ENaC Causing Liddle's Syndrome and the Association of ENaC Variations and Hypertension
The variations of ENaC have an impact on the degradation of epithelial sodium channels and sodium reabsorption, and thus are associated with hypertension and hypokalemia.
- Trial name
- NCT00448162
- Where
- China
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Peking Union Medical College
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
Genetic Screening, Adolescent
Engaging Adolescents in Decisions About Return of Genomic Research Results
Recent recommendations to return children's results for adult-onset conditions to parents anytime whole exome or genome sequencing is performed, as well as growing expectations to return research results to participants on a…
- Conditions
- Genetic Screening, Adolescent, Genetic Change, Shared Decision Making
- Trial name
- NCT04481061
- Testing
- Electronic Decision Tool
- Where
- 2 sites in United States
- Volunteers
- 787 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Carcinoma, Non-Small-Cell Lung
Detection of Either the EML4-ALK Gene Rearrangements or the T790M EGFR Mutation in the Plasma of Advanced NSCLC Patients
Demonstrate feasibility of detection of EML4-ALK fusion transcripts and T790M EGFR mutation from exosomes in the circulation of Non-Small Cell Lung Cancer (NSCLS) patients.
- Trial name
- NCT03236675
- Where
- 2 sites in United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Exosome Diagnostics, Inc.