Clinical trials: Mutations
Stomach Neoplasms, Stomach Cancer
Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric Cancer
Background: Gastric cancers are cancers of the stomach. Hereditary ones are passed from parent to child. Researchers want to gather data about hereditary gastric cancers.
- Conditions
- Stomach Neoplasms, Stomach Cancer, Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS), Hereditary Diffuse Gastric Cancer (HDGC)
- Trial name
- NCT03030404
- Where
- United States
- Volunteers
- 733 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
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
Prostate Cancer, Genetic Predisposition to Disease
Prophylactic Prostatectomy for Prostate Cancer (PPPC)
Prostate cancer affects 1-in-8 people assigned male at birth in the UK and kills almost 12,000 annually. Half the cases occur due to genetic factors.
- Conditions
- Prostate Cancer, Genetic Predisposition to Disease, BRCA Mutation
- Trial name
- PPPC (NCT06470685)
- Testing
- Qualitative Research Interviews
- Where
- United Kingdom
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Royal Marsden NHS Foundation Trust
Ergocalciferol
Pilot Study: The Effect of Ergocalciferol on Plasma Mucin-1 Levels
To determine if a one-time oral administration of ergocalciferol results in a decline in plasma mucin-1 levels in healthy individuals and individuals with ADTKD-MUC1.
- Trial name
- NCT03747523
- Testing
- Ergocalciferol
- Where
- United States
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- Wake Forest University Health Sciences
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
Breast Cancer
One-stage Breast Reconstruction Using Dermal Matrix/Implant Versus Two-stage Expander/Implant Procedure
Currently the two-stage tissue expander/implant (TE/I) technique is the standard breast reconstructive option for breast cancer patients selected for immediate, skin-sparing mastectomy.
- Trial name
- AllodermRCT (NCT00956384)
- Testing
- One-stage dermal matrix/implant procedure, Two-stage tissue expander/implant procedure
- Where
- 4 sites in Canada
- Volunteers
- 198 people, healthy volunteers welcome
- Sponsor
- University Health Network, Toronto
Genetic Alteration, Low Back Pain
Genetic Alterations From Physical Therapy in Low Back Pain and Disc Degeneration
Background and Scientific Rationale: This prospective randomized controlled trial examines the combined effect of physiotherapy and vitamin D supplementation on pain, disability, interleukin-6 (IL-6) expression, and vitamin D…
- Conditions
- Genetic Alteration, Low Back Pain, Physiotherapy
- Trial name
- Low back pain (NCT07439874)
- Testing
- Interferential therapy
- Where
- Saudi Arabia
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- University of Tabuk
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
Genetic Predisposition, BRCA Mutation
Frequency of Occult Breast Cancer After Prophylactic Mastectomy Among High-Penetrance Breast Cancer Gene Positives
The role of Sentinel Lymph Node Biopsy(SLNB) among mutation-negative BC patients is well established; however, we are lacking data to assess the role of sentinel lymph node biopsy for patients who are undergoing surgery for…
- Conditions
- Genetic Predisposition, BRCA Mutation, Breast Cancer, Occult Cancer
- Trial name
- OBC-PM (NCT05771454)
- Testing
- Histopathological confirmation
- Where
- Pakistan
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Aga Khan University Hospital, Pakistan
Dental Caries
Study of Factors of Genetic Susceptibility Associated to Severe Caries Phenotype
Alteration of the post- eruptive enamel microstructure due to a mutation of a gene coding for a matrix protein could increase the susceptibility of the enamel to caries after tooth eruption.
- Trial name
- Cariogene (NCT00541060)
- Testing
- mutation
- Where
- France
- Volunteers
- 390 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
BRCA1 Mutation, BRCA2 Mutation
BRCA Founder OutReach (BFOR) Study
The purpose of this study is to learn how to provide BRCA gene testing to a larger number of people as well as to make testing part of a person's regular medical care.
- Trial name
- BFOR (NCT03351803)
- Testing
- BFOR Digital Health solution/Web Portal
- Where
- 5 sites in United States
- Volunteers
- 5,412 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Prostate Cancer, Hereditary Prostate Cancer
Targeted Prostate Cancer Screening in Men With BRCA1/2 Mutations
This interventional study is a follow-up component of the IMPACT project, which aims to identify men at increased hereditary risk of prostate cancer.
- Trial name
- IMPACT (NCT07416812)
- Testing
- Targeted Prostate Cancer Screening, Telephone Follow-Up Interview
- Where
- Slovenia
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Institute of Oncology Ljubljana
Intellectual Deficiency, Asymptomatic Carrier of the Mutation of the Gene MYT1L
Development of the Tool " iPSC " for the Functional Study of Mutations Responsible for Mental Retardation
According to the World Health Organization (WHO), mental retardation (MR) is defined by an intelligence quotient (IQ) < 70 and touches between 1 to 3 % of the general population.
- Conditions
- Intellectual Deficiency, Asymptomatic Carrier of the Mutation of the Gene MYT1L, Healthy Volunteers
- Trial name
- Rementips (NCT02980302)
- Testing
- Cutaneous biopsy
- Where
- France
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- University Hospital, Grenoble
Photoaging
Sample Collection Study to Assess Prevalence of Gene Mutations: Establishing Population Norms
This is a multi-center, sample collection study to quantitatively assess the presence of gene mutations in subject's skin collected non-invasively.
- Trial name
- NCT05079737
- Testing
- Mutation Burden
- Where
- United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- DermTech
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
BRCA Mutation, PALB2 Gene Mutation
Low Dose TamOxifen and LifestylE Changes for bReast cANcer prevenTion
Circulating levels of Sex Hormone Binding Globulin (SHBG) are significantly associated with a decreased risk of breast cancer. The main aim of this clinical trial is to verify whether Low Dose Tamoxifen (LDT) increases…
- Conditions
- BRCA Mutation, PALB2 Gene Mutation, Ductal Carcinoma in Situ, Lobular Carcinoma in Situ
- Trial name
- TOLERANT (NCT06033092)
- Testing
- Tamoxifen 10 mg Tablet, Intermittent caloric restriction, Step counter Device
- Where
- 4 sites in Italy
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- European Institute of Oncology
Frontotemporal Lobar Degeneration
Natural History Characterization in Symptomatic and Asymptomatic Progranuline Gene Mutation Carriers
The purpose of this study is to investigate whether cognitive deficits, structural and functional changes can be detected before symptom onset in presymptomatic progranuline mutation carriers.
- Trial name
- Predict-PGRN (NCT04014673)
- Testing
- Behavioral : Characterization
- Where
- 2 sites in France
- Volunteers
- 78 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Myopia
Myopia:the Role of Cone Opsin Mutations & Glasses That Control Axial Elongation
1. To determine the effect of spectacles with a red blocking filter on myopia progression in children. 2. To determine the effect of spectacles with a holographic diffuser that spreads incident light rays over an angle of 0.5…
- Trial name
- NCT01923675
- Testing
- Spectacles with red-blocking tint, Spectacles with holographic diffuser and color neutral tint, Spectacles with holographic diffuser and red-blocking tint
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Washington
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's Disease
Clinical, Molecular and by Neuroimaging of LRRK2 Mutations
Besides Parkinson's disease (PD), it exists rare parkinsonian syndromes clinically close to PD and that correspond to Mendelian entities.
- Trial name
- LRRK2 (NCT01085227)
- Where
- 2 sites in France
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France