Clinical trials: Genetic Mutation
Body Mass Index 25 or Greater, BRCA1 Gene Mutation
Energy Balance Interventions in Increasing Physical Activity in Breast Cancer Gene Positive Patients, Lynch Syndrome-Positive Patients, CLL Survivors or High-Risk Family Members
This pilot clinical trial studies different types of energy balance interventions to see how well they work in increasing the physical activity levels of breast cancer gene-positive patients, Lynch syndrome-positive patients…
- Conditions
- Body Mass Index 25 or Greater, BRCA1 Gene Mutation, BRCA2 Gene Mutation, Breast Carcinoma
- Trial name
- NCT02194387
- Testing
- Dietary Intervention, Internet-Based Intervention, Laboratory Biomarker Analysis
- Where
- United States
- Volunteers
- 337 people, healthy volunteers welcome
- Sponsor
- M.D. Anderson Cancer Center
BRCA-Mutated Ovarian Carcinoma, BRIP1 Gene Mutation
Cascade Testing in Families With Newly Diagnosed Hereditary Breast and Ovarian Cancer Syndrome
Identification of BRCA mutations in ovarian cancer patients may help guide cancer therapies, prognosis, post-operative screening, and other preventative treatments beyond the initial diagnosis.
- Conditions
- BRCA-Mutated Ovarian Carcinoma, BRIP1 Gene Mutation, MSH2 A636P, MLH1 Gene Mutation
- Trial name
- NCT04009148
- Testing
- CASCADE genetic screening
- Where
- United States
- Volunteers
- 118 people, healthy volunteers welcome
- Sponsor
- NYU Langone Health
BRCA1 Mutation, POLD1 Gene Mutation
An Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk and An Intervention to Help Patients and Their Primary Care Providers Stay Up-to-date About Uncertain Genetic Test Results
The purpose of this study is to examine the impact of new cancer genetic counseling models that aim to increase patient engagement with the genetics team.
- Conditions
- BRCA1 Mutation, POLD1 Gene Mutation, CDKN2A Mutation, BRCA2 Mutation
- Trial name
- NCT05420064
- Testing
- Intervention Arm At-risk Relative/ARR Contacts, MyGene Portal, Standard of Care
- Where
- 8 sites in United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Frontotemporal Lobar Degeneration (FTLD), Progressive Supranuclear Palsy (PSP)
ARTFL LEFFTDS Longitudinal Frontotemporal Lobar Degeneration (ALLFTD)
ARTFL LEFFTDS Longitudinal Frontotemporal Lobar Degeneration (ALLFTD) represents the formalized integration of ARTFL (U54 NS092089; funded through 2019) and LEFFTDS (U01 AG045390; funded through 2019) as a single North American…
- Conditions
- Frontotemporal Lobar Degeneration (FTLD), Progressive Supranuclear Palsy (PSP), Corticobasal Degeneration (CBD), Behavioral Variant Frontotemporal Dementia (bvFTD)
- Trial name
- NCT04363684
- Where
- 26 sites in United States, Canada
- Volunteers
- 2,100 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
BRCA1 Mutation, BRCA2 Mutation
Evaluating Cascade Communication Methods
Hereditary cancer programs face challenges with respect to effective communication of genetic test results within families and uptake of genetic testing by relatives.
- Trial name
- ECHO (NCT04428736)
- Testing
- Disclosure Toolkit
- Where
- United States
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Lumbar Spinal Stenosis, Cardiac Amyloidosis
Analysis of Lumbar Spine Stenosis Specimens for Identification of Transthyretin Cardiac Amyloidosis
Primary objective: To identify older adults with transthyretin cardiac amyloidosis (ATTR-CA) early in the course of the illness, at a time when disease modifying therapies are most effective.
- Conditions
- Lumbar Spinal Stenosis, Cardiac Amyloidosis, ATTR Amyloidosis Wild Type, ATTR Gene Mutation
- Trial name
- NCT06034405
- Testing
- Tc99-PYP or Tc99-HDMP Scan
- Where
- 6 sites in United States
- Volunteers
- 1,663 people, healthy volunteers welcome
- Sponsor
- Columbia University
BRCA1 Gene Mutation, BRCA2 Gene Mutation
The Link Between BRCA Mutation and Endothelial Function
This study evaluates the effect of BRCA1\&2 mutations on cardiovascular diseases by to comparing the endothelial function of male BRCA mutation carriers with that of age matched non-BRCA mutation carriers.
- Trial name
- NCT02474264
- Testing
- Endothelial function assessment, Cardiovascular biomarkers, Endothelial cells
- Where
- Israel
- Volunteers
- 82 people, healthy volunteers welcome
- Sponsor
- Rabin Medical Center
Advanced Non-small Cell Lung Cancer, EGFR Mutation
A Study to Learn About How BAY2927088 Affects the Level of Midazolam in the Blood When Both 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
- NCT06360211
- Testing
- BAY2927088, Midazolam
- Where
- United States
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Bayer
Anatomic Stage IA Breast Cancer AJCC v8, Anatomic Stage IB Breast Cancer AJCC v8
Prospective Registry Trial for Single Port Robot-assisted Nipple Sparing Mastectomy (SPrNSM)
This is a prospective registry trial to determine the outcomes of single port robot-assisted nipple sparing mastectomy (SPrNSM) utilitzing the SP da Vinci surgical system.
- Conditions
- Anatomic Stage IA Breast Cancer AJCC v8, Anatomic Stage IB Breast Cancer AJCC v8, Anatomic Stage IIA Breast Cancer AJCC v8, Anatomic Stage II Breast Cancer AJCC v8
- Trial name
- SPrNSM (NCT04866992)
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- University of Texas Southwestern Medical Center
Generalized Aggressive Periodontitis, Chronic Periodontitis
Evaluation of Possible Genes in Periodontal Diseases by Genetic Methods
Generalized aggressive Periodontitis (GAgP) and chronic periodontitis (CP) are inflammatory diseases. Little is known about molecular changes and signaling cascade of host response.
- Trial name
- NCT04026828
- Testing
- Periodontitis Group
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Kocaeli University
Pancreatic Cancer
DNA Mutation Detection in Circulating Tumor DNA and Tissue by mmADPS for Pancreatic Cancer
Based on the cell free nucleic acid analysis information of blood samples and genetic mutation profile of EUS-FNB tissue from pancreatic cancer, the concordance between them is evaluated.
- Trial name
- NCT05604573
- Testing
- cell free DNA in blood, genetic mutation in tissue
- Where
- South Korea
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Seoul National University Hospital
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
Heterozygous Carriers of Gitelman Syndrome
Clinical Significance of Heterozygosity for Mutations of the SLC12A3 Gene Coding for the Thiazide Sensitive Na-Cl Cotransporter
Gitelman syndrome is a salt wasting tubulopathy caused by mutations in the SLC12A3 gene coding for the thiazide sensitive sodium chloride cotransporter.
- Trial name
- HEPHYGI (NCT02035046)
- Testing
- Samplings of blood, Sampling of urine, Measure of the blood pressure
- Where
- 5 sites in France
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Obesity
GLP-1 Response and Effect in Individuals With Obesity Causing Genetic Mutations
The obesity epidemic is attributable to dietary and behavioral trends acting on a person's genetic makeup to determine body mass and susceptibility to obesity-related diseases.
- Trial name
- NCT02082496
- Testing
- Liraglutide
- Where
- Denmark
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University of Copenhagen
BRCA1 Mutation, BRCA2 Mutation
FaCT Trial (Facilitated Cascade Testing Trial)
The purpose of this study is to assess an intervention that incorporates engagement strategies with a medical team navigator, an educational video and accessible genetic testing services to maximize the genetic testing and…
- Trial name
- NCT04613440
- Testing
- Family Letter (Standard of Care), Educational Video, Mailed Saliva Kit for Genetic Testing
- Where
- 3 sites in United States
- Volunteers
- 524 people, healthy volunteers welcome
- Sponsor
- Weill Medical College of Cornell University
Parkinson Disease, Gaucher Disease
Biomarker Analysis for GBA Associated Parkinson's Disease
The primary aim of the study is to conclusively demonstrate the possibility of using the following molecules, α-Synuclein, LRRK2 and Parkin individually or in combination as biomarkers for Parkinson's disease (PD) progression in…
- Trial name
- NCT03811496
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Somatic Mutation, Ocular Melanoma
iSITE: Investigation of Somatic Alterations in Tumours of the Eye
Modern DNA sequencing technologies enable researchers to identify mutations that have been acquired during the lifetime of patients (somatic mutations).
- Trial name
- iSITE (NCT06861647)
- Testing
- sample collection, Discussing study/seeking consent, Completion of Study Questionnaire
- Where
- United Kingdom
- Volunteers
- 58 people, healthy volunteers welcome
- Sponsor
- The Wellcome Sanger Institute
Nevi
Study to Test Genetic Alterations Among Different Dermoscopic Types of Melanocytic Nevi.
This project is a multicenter study in which we will investigate a dual concept of nevogenesis. Study location is the Department of Dermatology at the Medical University of Graz in collaboration with centers in Austria (Vienna)…
- Trial name
- NCT00422448
- Testing
- To test the frequency of BRAF and NRAS mutations among nevi
- Where
- Austria
- Volunteers
- 43 people, healthy volunteers welcome
- Sponsor
- Medical University of Graz
Somatic Mutation
Exploring the Landscape of Somatic Mutations in Human Tissue
Every cell in the human body contains a blueprint of the body called the genome. Throughout life, the genome can become damaged resulting in errors (mutations) that can change the way cells behave and may result in diseases such…
- Trial name
- NCT06585800
- Testing
- sample collection
- Where
- United Kingdom
- Volunteers
- 1,800 people, healthy volunteers welcome
- Sponsor
- The Wellcome Sanger Institute
Dementia, Frontotemporal
A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of VES001 in Healthy Participants
This is a Phase 1, randomized, placebo-controlled, double-blind study to evaluate the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of single and multiple doses of VES001 in a two part followed by a…
- Trial name
- SORT-IN-1 (NCT06226064)
- Testing
- VES001
- Where
- Netherlands
- Volunteers
- 78 people, healthy volunteers welcome
- Sponsor
- Vesper Biotechnologies ApS