Clinical trials: DNA Repair Disorder
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
Fanconi Anemia
Gene Function in Bone Marrow Cells From Patients With Fanconi Anemia and From Healthy Participants
RATIONALE: Studying samples of bone marrow from patients with Fanconi anemia and from healthy participants in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to Fanconi…
- Trial name
- NCT00896740
- Testing
- microarray analysis, biopsy
- Where
- United States
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- OHSU Knight Cancer Institute
Lynch Syndrome
Atorvastatin ± Aspirin in Lynch Syndrome Syndrome
The goal of this study is to investigate that a common cholesterol lowering agent (atorvastatin) alone or combining with a nonsteroidal anti-inflammatory drug (aspirin) would reduce the risk of colorectal cancer (CRC) in…
- Trial name
- NCT04379999
- Testing
- Atorvastatin 20mg, Atorvastatin 20mg AND Aspirin 325 mg
- Where
- United States
- Volunteers
- 43 people, healthy volunteers welcome
- Sponsor
- Fox Chase Cancer Center
Colorectal Cancer, Familial Adenomatous Polyposis
DNA Adductomics for Colorectal Cancer Investigation
This project seeks to identify DNA-adducts in colon tissue from different groups of patients with CRC scheduled for complete or partial colon resections. Other patients scheduled for resection of the colon serve as controls.
- Conditions
- Colorectal Cancer, Familial Adenomatous Polyposis, Hereditary Non-polyposis Colon Cancer, Lynch Syndrome
- Trial name
- adductomics (NCT04865601)
- Testing
- resectomy of the colon
- Where
- Denmark
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of Copenhagen
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
Lynch Syndrome, Polyposis Syndrome, Hereditary Mixed, 1
PSYLIVED: the Psychological Impacts of Living With an Inherited Colorectal Cancer Predisposition Syndrome
Why? PSYLIVED is a qualitative study that aims to understand the psychological experience of individuals living with inherited colorectal cancer.
- Conditions
- Lynch Syndrome, Polyposis Syndrome, Hereditary Mixed, 1, Polyposis Syndrome, Hereditary Mixed, 2
- Trial name
- PSYLIVED (NCT06447961)
- Where
- United Kingdom
- Volunteers
- 66 people, healthy volunteers welcome
- Sponsor
- London North West Healthcare NHS Trust
Alcohol-Related Carcinoma, Fanconi Anemia
Role of Acetaldehyde in the Development of Oral Cancer
This is a minimal risk intervention study where healthy volunteers and individuals with Fanconi anemia will consume a single dose of alcohol and provide primarily non-invasive biological samples at various time points.
- Conditions
- Alcohol-Related Carcinoma, Fanconi Anemia, Oral Cavity Carcinoma
- Trial name
- NCT05973656
- Testing
- Alcohol, Biospecimen Collection, Breath Test
- Where
- United States
- Volunteers
- 170 people, healthy volunteers welcome
- Sponsor
- Masonic Cancer Center, University of Minnesota
Severe Combined Immunodeficiency
The Experience of Screening for SCID
This project will evaluate the impact of including Severe Combined Immunodeficiency into the newborn bloodspot screening panel. It will recruit parents and health professionals primarily from the sites where this new form of…
- Trial name
- NCT05651113
- Testing
- SCID Screening
- Where
- United Kingdom
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- King's College London
Mitochondrial Disorders, Li-Fraumeni Syndrome
Role of p53 Gene in Metabolism Regulation in Patients With Li-Fraumeni Syndrome
This study will examine metabolic and biological factors in people with Li-Fraumeni syndrome, a rare hereditary disorder that greatly increases a person's susceptibility to cancer.
- Conditions
- Mitochondrial Disorders, Li-Fraumeni Syndrome, Carriers of p53 Mutation
- Trial name
- NCT00406445
- Where
- United States
- Volunteers
- 82 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Colon Cancer, Rectal Cancer
Adherence to Colon Cancer Screening (ACCS)
This randomized clinical trial studies website access or genetic counseling with or without patient navigators on adherence to colorectal cancer screening recommendations in patients with newly diagnosed colorectal cancer and…
- Trial name
- NCT02112747
- Testing
- Patient Navigator
- Where
- United States
- Volunteers
- 1,900 people, healthy volunteers welcome
- Sponsor
- Ohio State University Comprehensive Cancer Center
Endometrial Cancer, Lynch Syndrome
Menstrual Cup for Early Endometrial Cancer Detection in Lynch Syndrome
Study Goal: This pilot study wants to find out if using a menstrual cup can be a good, non-invasive way to collect samples from the lining of the uterus (called the endometrium) to help screen for endometrial cancer.
- Conditions
- Endometrial Cancer, Lynch Syndrome, Screening, Early Detection of Cancer
- Trial name
- SCREEN-CUP (NCT07220239)
- Testing
- Menstrual cup use
- Where
- United States
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Jessica D. St. Laurent, MD
Hutchinson-Gilford Progeria Syndrome, Werner Syndrome
Phase I Study of Progerinin in Healthy Volunteers
PRG-PRO-001 is a Phase I, Randomized, Double-blind, Placebo-Controlled, Single Ascending Dose (SAD) Study including a food interaction study, followed by a Multiple Ascending Dose (MAD) Study to Evaluate the Safety, Tolerability…
- Trial name
- NCT04512963
- Testing
- Progerinin
- Where
- United States
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- PRG Science & Technology Co., Ltd.
Colorectal Cancer
Mesalamine for Colorectal Cancer Prevention Program in Lynch Syndrome
Multicenter, multinational, randomized, 3-arm, double-blind, phase II clinical study with 2400mg mesalamine, 1200mg mesalamine or placebo for prevention of colorectal neoplasia in Lynch Syndrome patients for 2 years.
- Trial name
- MesaCAPP (NCT03070574)
- Testing
- mesalamine 2400 MG (5-ASA), mesalamine 1200 MG
- Where
- 6 sites in Austria, Germany and 4 more
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Christoph Gasche
Cockayne Syndrome
Metabolic Study of Cockayne Syndrome
Cockayne syndrome (CS) is related to defective DNA transcription and/or repair and belongs to the family of Nucleotide Excision Repair.
- Trial name
- METABO-CS (NCT03044210)
- Testing
- Metabolic evaluation
- Where
- France
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Prostate Cancer
Periperal Blood Lymphocytes During Prostate RT
Right now it is not possible to predict which patients are going to react more to RT. Many things could affect patient's response to radiation.
- Trial name
- NCT01899391
- Volunteers
- healthy volunteers welcome
- Sponsor
- University Health Network, Toronto
Ataxia Telangiectasia
Oxidative Stress, Low Grade Inflammation, Tissue Breakdown and Biomarkers in Cerebrospinal Fluid of A-T
Ataxia telangiectasia (A-T) is a rare devastating human recessive disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability, and cancer susceptibility.
- Trial name
- NCT02285348
- Testing
- Lumbar puncture
- Where
- Germany
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Johann Wolfgang Goethe University Hospital
Chronic Myeloproliferative Disorders, Fanconi Anemia
Research Study in Healthy Volunteers of Patients With Fanconi Anemia, Myeloproliferative Disorders, or Myeloma
RATIONALE: Analyzing tissue and blood samples from healthy volunteers or patients with Fanconi anemia, myelodysplasia, myeloproliferative disorders, or myeloma in the laboratory may help doctors learn more about the causes of…
- Conditions
- Chronic Myeloproliferative Disorders, Fanconi Anemia, Multiple Myeloma and Plasma Cell Neoplasm, Myelodysplastic/Myeloproliferative Neoplasms
- Trial name
- NCT00900055
- Testing
- microarray analysis, polyacrylamide gel electrophoresis, polymerase chain reaction
- Where
- United States
- Volunteers
- 213 people, healthy volunteers welcome
- Sponsor
- OHSU Knight Cancer Institute
Neurodegenerative Disorders
Development of IPS from Donated Somatic Cells of Patients with Neurological Diseases
Human fibroblasts and possibly other human somatic cells may be reprogrammed into induced pluripotent stem (iPS) cells by the forced expression of transcription factors (1-5).
- Trial name
- NCT00874783
- Where
- Israel
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Hadassah Medical Organization
Colorectal Cancer, Rectal Cancer
PeLear CCC: Proyecto Latino Contra Cancer Colorrectal
The study aims to recruit 60 Spanish speaking individuals who identify as Latinos, are 18 years or older and attend the Saint Thomas More (STM) Church in Chapel Hill.
- Conditions
- Colorectal Cancer, Rectal Cancer, Colon Cancer, Colon Rectal Cancer
- Trial name
- PeLear CCC (NCT06426927)
- Testing
- Colorectal Cancer Educational Videos in Spanish
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
COVID-19 Pneumonia
A Proof of Concept Study for the DNA Repair Driven by the Mesenchymal Stem Cells in Critical COVID-19 Patients
Our aim in this study is to determine the positive effect of stem cell therapy applied on critically ill patients with coronavirus infection on DNA repair genes.
- Trial name
- REPAIR (NCT04898088)
- Testing
- Mesenchymal Stem Cells Transplantation
- Where
- 2 sites in Turkey (Türkiye)
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- SBÜ Dr. Sadi Konuk Eğitim ve Araştırma Hastanesi