Clinical trials: DNA Repair Disorder
Bloom Syndrome
Biological Significance of the Bloom's Syndrome Protein
Since 1960, persons with the very rare disorder Bloom's syndrome (BS) have been followed clinically, documenting clinical matters as obtained from their doctors.
- Trial name
- NCT00021437
- Where
- United States
- Sponsor
- National Center for Research Resources (NCRR)
Non-Small Cell Lung Cancer, Small Cell Lung Cancer
QUILT-3.055: A Study of Combination Immunotherapies in Patients Who Have Previously Received Treatment With Immune Checkpoint Inhibitors
QUILT-3.055 is a Phase 2b, open-label, multicohort study investigating combination immunotherapies in patients with advanced solid tumors who have previously been treated with PD-1/PD-L1 checkpoint inhibitors.
- Conditions
- Non-Small Cell Lung Cancer, Small Cell Lung Cancer, Urothelial Carcinoma, Head and Neck Squamous Cell Carcinoma
- Trial name
- NCT03228667
- Testing
- N-803 + Pembrolizumab, N-803 + Nivolumab, N-803 + Atezolizumab
- Where
- 35 sites in United States
- Volunteers
- 40 people
- Sponsor
- ImmunityBio, Inc.
Hematologic Malignancies, Nonmalignant Diseases
Study of Clofarabine and Fludarabine Drug Exposure in Pediatric Bone Marrow Transplantation (HCT)
Fludarabine and clofarabine are chemotherapy drugs used extensively in bone marrow transplantation. The goal of this study is to determine what causes some children to have different drug concentrations of clofarabine and…
- Conditions
- Hematologic Malignancies, Nonmalignant Diseases, Immunodeficiencies, Hemoglobinopathies
- Trial name
- NCT03609814
- Testing
- Clofarabine, Fludarabine Injection
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- University of California, San Francisco
Severe Combined Immunodeficiency
MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID
Severe combined immune deficiency (SCID) may result from inherited deficiency of the enzyme adenosine deaminase (ADA). Children with ADA-deficient SCID often die from infections in infancy, unless treated with either a bone…
- Trial name
- NCT00794508
- Testing
- ADA gene transfer
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Donald B. Kohn, M.D.
Breast Cancer
Study Evaluating DNA Double-strand Breaks (DSBs) REpair Factors (POLQ, Shieldin Complex and 53BP1) Expression as Biomarker of PARP Inhibitor Resistance in Patients With Deleterious Germline Mutation in BRCA 1/2 and HER2-negative, Metastatic or Locally Advanced Breast Cancer.
The purpose of this study is to assess whether expression of not only POLQ/Polθ, but also Shieldin complex and/or 53BP1 are correlated with primary and/or acquired resistance to PARPi (Poly(ADP-Ribose) Polymerases inhibitors) in…
- Trial name
- REPARP (NCT05378204)
- Testing
- Main study:, Sub-study:
- Where
- 25 sites in France
- Volunteers
- 120 people
- Sponsor
- Institut Claudius Regaud
Lynch Syndrome
NBI Versus Indigo Carmine During Colonoscopy in Lynch Syndrome
This study compares two colonoscopy techniques (with Narrow Band Imaging versus with indigo carmine chromoendoscopy) in patients having Lynch Syndrome
- Trial name
- LYNCH-CHROMO (NCT02570516)
- Testing
- Colonoscopy
- Where
- 7 sites in France
- Volunteers
- 141 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Lynch Syndrome
Evaluation of ArTificial Intelligence System (Gi-Genius) for adenoMa dEtection in Lynch Syndrome.
The purpose of this study is to assess if artificial intelligence aid colonoscopy colonoscopy is superior to conventional colonoscopy for the detection of adenomas during surveillance colonoscopy in patients with Lynch syndrome.
- Trial name
- Timely (NCT04909671)
- Testing
- Gi Genius, Medtronic, White light standart colonoscopy
- Where
- 2 sites in Spain
- Volunteers
- 404 people
- Sponsor
- Hospital Clinic of Barcelona
Metastatic Triple Negative Breast Cancer
To Assess Safety and Efficacy of Agents Targeting DNA Damage Repair With Olaparib Versus Olaparib Monotherapy.
This study is to assess the efficacy and safety of olaparib monotherapy versus olaparib in combination with an inhibitor of ATR (Ataxia-Telangiectasia Mutated (ATM) and Rad3-related protein kinase (Ceralasertib [AZD6738]) and…
- Trial name
- NCT03330847
- Testing
- Olaparib Continuous (28-Day cycle) 300 mg BD., Ceralasertib 160 mg OD + olaparib continuous 300 mg BD (28-day cycle)., Adavosertib 150 mg BD + olaparib 200 mg BD (21-day cycle).
- Where
- 141 sites in United States, Belgium and 13 more
- Volunteers
- 273 people
- Sponsor
- AstraZeneca
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
Colorectal Neoplasm
Antibody DS-8273a Administered in Combination With Nivolumab in Subjects With Advanced Colorectal Cancer
This trial is being performed in two parts: Dose Escalation and Dose Expansion. The primary objective for the Dose Escalation part is to determine the safety and tolerability at different doses of DS-8273a administered in…
- Trial name
- NCT02991196
- Testing
- DS-8273a + nivolumab
- Where
- 4 sites in United States
- Volunteers
- 4 people
- Sponsor
- Daiichi Sankyo
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
Prostate Cancer
Application of Genetic Polymorphisms of DNA Repair in The Prediction of Prostate Cancer Susceptibility and Its Clinical Outcome
Primary: to investigate the effects of DNA repair gene polymorphisms on prostate cancer susceptibility, pathological grade, disease stage and clinical outcome Secondary: to understand the association between DNA repair gene…
- Trial name
- NCT00167024
- Where
- Taiwan
- Volunteers
- 100 people
- Sponsor
- National Taiwan University Hospital
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
Xeroderma Pigmentosum, Basal Cell Carcinoma
Cancer Risk in Carriers of the Gene for Xeroderma Pigmentosum
This study will determine if family members of patients with xeroderma pigmentosum (XP) have various abnormalities, including: skin abnormalities; nervous system abnormalities, such as hearing problems; skin, eye, or internal…
- Conditions
- Xeroderma Pigmentosum, Basal Cell Carcinoma, Squamous Cell Carcinoma, Melanoma
- Trial name
- NCT00046189
- Where
- United States
- Volunteers
- 301 people
- Sponsor
- National Cancer Institute (NCI)
Bone Marrow Failure Syndromes, Erythrocyte Disorder
Investigation of the Genetics of Hematologic Diseases
The purpose of this study is to collect and store samples and health information for current and future research to learn more about the causes and treatment of blood diseases.
- Conditions
- Bone Marrow Failure Syndromes, Erythrocyte Disorder, Leukocyte Disorder, Hemostasis
- Trial name
- NCT02720679
- Where
- United States
- Volunteers
- 1,716 people
- Sponsor
- St. Jude Children's Research Hospital
Severe Combined Immunodeficiency
Influences on Female Adolescents' Decisions Regarding Testing for Carrier Status of XSCID
The purpose of this study is to learn what factors influence adolescent girls' decisions regarding testing for carrier status of X-Linked Severe Combined Immunodeficiency (XSCID).
- Trial name
- NCT00006335
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Nijmegen Breakage Syndrome
Low Dose Treosulfan Based Conditioning Regimen in HSCT for Nijmegen Breakage Syndrome
The aim of the current study is to evaluate the safety and efficacy of low dose treosulfan based conditioning regimen in HSCT in Nijmegen breakage syndrome
- Trial name
- NCT04400045
- Testing
- Treosulfan
- Where
- Russia
- Volunteers
- 10 people
- Sponsor
- Federal Research Institute of Pediatric Hematology, Oncology and Immunology
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
Ataxia-Telangiectasia
Study for Treatment of Cancer in Children With Ataxia-telangiectasia
This is a pilot/feasibility study designed to investigate the feasibility of treating children with Ataxia-Telangiectasia (A-T) and cancer with regimens nearly as intense as non-A-T patients with cancer would receive.
- Trial name
- NCT00187057
- Testing
- vinblastine, vincristine, prednisone, daunorubicin, doxorubicin, methotrexate, cyclophosphamide, L-asparaginase, etoposide, cytarabine, mercaptopurine
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- St. Jude Children's Research Hospital
Ataxia Telangiectasia
Evaluate the Neurological Effects of EryDex on Subjects With A-T
This is an international, multi-center, randomized, prospective, double-blind, placebo-controlled, Phase 3 study, designed to assess the effect of EryDex (dexamethasone sodium phosphate [DSP] in autologous erythrocytes)…
- Trial name
- NEAT (NCT06193200)
- Testing
- Dexamethasone sodium phosphate
- Where
- 19 sites in United States, Denmark and 7 more
- Volunteers
- 105 people
- Sponsor
- Quince Therapeutics S.p.A.