Clinical trials: DNA Repair Disorder
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
Urothelial Carcinoma, Lynch Syndrome
Urothelial Cancer Screening in Individuals With Lynch Syndrome Using a Urine Tumor DNA Panel (LS-URO Study)
Lynch syndrome (LS) is an inherited cancer predisposition syndrome caused by pathogenic germline variants in DNA mismatch repair (MMR) genes.
- Trial name
- NCT06218433
- Testing
- Urothelial cancer screening using urine tumor DNA test, Urothelial cancer screening using urine cytology (comparator)
- Where
- 2 sites in Canada, Finland
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Tampere University Hospital
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
Lynch Syndrome, Lynch Syndrome I
Videocapsule Endoscopy in Lynch Syndrome
Background Lynch syndrome is caused by a pathogenic variant in one of the four Mismatch Repair genes (MMR): MLH1, MSH2/Epcam, MSH6, or PMS2.
- Conditions
- Lynch Syndrome, Lynch Syndrome I, Lynch Syndrome II, MLH1 Gene Mutation
- Trial name
- NCT05704010
- Testing
- Video capsule endoscopy
- Where
- Italy
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- San Raffaele University
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
Hereditary Breast and Ovarian Cancer Syndrome, Lynch Syndrome
Telemedicine vs. Face-to-Face Cancer Genetic Counseling
Cancer genetic counseling (CGC) has been found to have "substantial" benefits for individuals with breast cancer and their family members; it has been deemed by multiple organizations as "standard of care" for women with breast…
- Trial name
- NCT00609505
- Testing
- Telemedicine, Face-to-Face
- Where
- 4 sites in United States
- Volunteers
- 130 people, healthy volunteers welcome
- Sponsor
- Duke University
Bladder Cancer, Colorectal Cancer
The Molecular Predisposition to Hereditary Nonpolyposis Colon Cancer (HNPCC)
The goal of this study is to understand factors which may influence risk for colorectal and other cancers in families. These factors include genetic variability, in combination with diet and lifestyle.
- Conditions
- Bladder Cancer, Colorectal Cancer, Endometrial Cancer, Kidney Cancer
- Trial name
- NCT01447199
- Testing
- Health and Diet Questionnaire
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- M.D. Anderson Cancer Center
Primary Immunodeficiency, DOCK8
Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders
Background: National Institutes of Health (NIH) researchers have been studying immune cells (white blood cells) to better understand how the human body s defense system works and adjusts or regulates itself, and how changes in…
- Conditions
- Primary Immunodeficiency, DOCK8, Virus Susceptibility
- Trial name
- NCT00895271
- Where
- United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
FANCONI ANEMIA
Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCT
While stem cell transplantation has proven an effective means of treating a wide variety of diseases involving hematopoietic stem cells and their progeny, a shortage of donors has proved a major impediment to the widest…
- Trial name
- RAFHAS (NCT00586274)
- Testing
- CD34 selected haploidentical PBSCT, Fludarabine, T cell infusion
- Where
- 2 sites in United States
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Hereditary Cancer Syndrome, Hereditary Breast and Ovarian Cancer
Evaluation of the Adhesion to the GENEPY Network
In order to best meet the needs of all those affected by the genetic risk of cancer in our region, it is important to identify the factors likely to influence the course leading to the GENEPY surveillance network.
- Conditions
- Hereditary Cancer Syndrome, Hereditary Breast and Ovarian Cancer, Hereditary Colorectal Endometrial Cancer Syndrome
- Trial name
- GENEPY (NCT03979612)
- Testing
- inclusion of subjects in the GENEPY network
- Where
- France
- Volunteers
- 450 people, healthy volunteers welcome
- Sponsor
- Institut Claudius Regaud
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
Lynch Syndrome, Contraception
Perception About Benefits and Risks Related to Combined Hormonal Contraceptives Use in Patients With Lynch Syndrome
Combined hormonal contraceptives (CHCs), according to the opinion by The Manchester International Consensus Group, should be considered for women wishing contraception because also positively impact endometrial cancer and ovarian…
- Trial name
- NCT05909410
- Testing
- Survey investigating the CHC use and patients' perception about the relationship between CHC and cancer, diseases and symptoms
- Where
- Italy
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Piazza della Vittoria 14 Studio Medico - Ginecologia e Ostetricia
Li-Fraumeni Syndrome
Magnetic Resonance Imaging Screening in Li Fraumeni Syndrome
This study is aimed at exploring the use of whole body MRI for early cancer detection in TP53 mutation carriers and population controls, with the hypothesis that more cancers will be detected in the TP53 mutation carrier group.
- Trial name
- SIGNIFY (NCT01737255)
- Testing
- Whole body MRI, Psychological questionnaires
- Where
- United Kingdom
- Volunteers
- 88 people, healthy volunteers welcome
- Sponsor
- Institute of Cancer Research, United Kingdom
Decision Aid
Using Visual Arrays to Support Understanding of Genetic Risk
The goal of this study is to understand how people understand risk from genetic testing. The investigators want to understand what visual aid best helps people accurately assess risk.
- Trial name
- NCT06994832
- Testing
- Visual Array, Narrative Visual Array, Choice
- Where
- United States
- Volunteers
- 1,045 people, healthy volunteers welcome
- Sponsor
- Stephanie B. Seminara, MD
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
Metabolic Disease, Obesity
Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System
Background: Researchers are interested in studying individuals who have known or suspected metabolic, inflammatory or genetic diseases that may put them at a high risk for heart diseases or diseases of their blood vessels.
- Conditions
- Metabolic Disease, Obesity, Li-Fraumeni Syndrome, Cardiomyopathy
- Trial name
- NCT01143454
- Testing
- NSR IDE-MRI: Research pulse sequences
- Where
- 3 sites in United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Ataxia Telangiectasia, Infections
Susceptibility to Infections in Ataxia Telangiectasia
Death in Ataxia telangiectasia (A-T) is usually due to cancer or chronic lung failure around 20 years of age. Despite low lymphocyte counts (CD3, CD4, CD8 and CD19), IgA and IgG subclass deficiency opportunistic and acute severe…
- Conditions
- Ataxia Telangiectasia, Infections, Immunodeficiency, Lung Disease
- Trial name
- NCT02345135
- Testing
- Blood collection, Lung function measurement, Symptom diary
- Volunteers
- 41 people, healthy volunteers welcome
- Sponsor
- Johann Wolfgang Goethe University Hospital
Ataxia Telangiectasia
Biomarkers for Babies and Young Children With Ataxia Telangiectasia
The goal of this observational study is to identify progressive changes of quantitative brain and lung imaging, serum and movement-related biomarkers reflecting disease progression in pre-symptomatic infants and very young…
- Trial name
- BOBCAT (NCT07709728)
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- University of Nottingham
Sarcopenia
Skeletal Muscle Apoptosis and Physical Performance; Oxidative RNA/DNA Damage and Repair in Aged Human Muscle
The age-related loss of muscle mass and strength, also termed sarcopenia, is a commonly recognized consequence of aging and has been associated with frailty, functional loss, hospitalization, and increased mortality among older…
- Trial name
- NCT01644279
- Where
- United States
- Volunteers
- 63 people, healthy volunteers welcome
- Sponsor
- University of Florida