Clinical trials: DNA Damage Repair Deficiency
Lynch Syndrome
Diagnosis of Lynch Syndrome Based on Next-generation Sequencing in Patients Meeting Chinese Lynch Syndrome Criteria
The purpose of this study is to find out the proportion of patients diagnosed with Lynch syndrome in colorectal cacner patients meeting Chinese Lynch syndrome criteria.
- Trial name
- NCT03046849
- Testing
- next-generation sequencing
- Where
- 3 sites in China
- Volunteers
- 100 people
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
Bone Marrow Failure, Osteopetrosis
Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases
This study proposes the use of a reduced intensity chemotherapy/radiation therapy regimen followed by stem cell transplantation, as compared to standard ablative chemotherapy regimens associated with stem cell transplantation, in…
- Conditions
- Bone Marrow Failure, Osteopetrosis, Fanconi Anemia, Severe Combined Immunodeficiency
- Trial name
- NCT01019876
- Testing
- Fludarabine, Cyclophosphamide, Busulfan
- Where
- United States
- Volunteers
- 38 people
- Sponsor
- Columbia University
Upper Urinary Tract Urothelial Carcinoma
The Danish Bladder Cancer Group 23 Study - A European Study on Cancer in the Upper Urinary Tract
This is a study looking at how patients with a rare type of cancer in the pelvis and ureter of the kidney - called upper urinary tract urothelial carcinoma (UTUC) - is currently treated.
- Trial name
- EuroCUT (NCT07077447)
- Testing
- Kidney sparing surgery for high-risk upper urinary tract urothelial carcinoma
- Where
- 5 sites in Denmark, Norway
- Volunteers
- 2,500 people
- Sponsor
- Zealand University Hospital
Adenosine Deaminase Deficiency, Autosomal Recessive Disorder
Total-Body Irradiation Followed By Cyclosporine and Mycophenolate Mofetil in Treating Patients With Severe Combined Immunodeficiency Undergoing Donor Bone Marrow Transplant
This pilot clinical trial studies total-body irradiation followed by cyclosporine and mycophenolate mofetil in treating patients with severe combined immunodeficiency (SCID) undergoing donor bone marrow transplant.
- Conditions
- Adenosine Deaminase Deficiency, Autosomal Recessive Disorder, Immune System Disorder, Purine-Nucleoside Phosphorylase Deficiency
- Trial name
- NCT00008450
- Testing
- Allogeneic Bone Marrow Transplantation, Cyclosporine, Laboratory Biomarker Analysis
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Fred Hutchinson Cancer Center
Adv Solid Malig - H&N SCC, ATM Pro / Def NSCLC, Gastric, Breast and Ovarian Cancer
Ascending Doses of Ceralasertib in Combination With Chemotherapy and/or Novel Anti Cancer Agents
This is a modular, phase I/ phase 1 b, open-label, multicentre study of ceralasertib administered orally in combination with cytotoxic chemotherapy regimens and/or novel anti-cancer agents, to patients with advanced malignancies.
- Trial name
- NCT02264678
- Testing
- Administration of ceralasertib, Administration of ceralasertib in combination with olaparib, Administation of ceralasertib in combination with durvalumab
- Where
- 28 sites in United States, France and 2 more
- Volunteers
- 358 people
- Sponsor
- AstraZeneca
Severe Combined Immunodeficiency, Fanconi Anemia
Expanded Access to CD34+ Selection Utilizing Miltenyi CliniMACS Prodigy® for Patients Receiving Peripheral Blood Stem Cell Transplantations and Stem Cell Boosts
Allogeneic stem cell transplantation (alloSCT) is utilized for various underlying diseases. AlloSCT is limited by graft versus host disease (GVHD), graft rejection, viral infections, and post-transplant lymphoproliferative…
- Conditions
- Severe Combined Immunodeficiency, Fanconi Anemia, Dyskeratosis Congenita, Sickle Cell Disease
- Trial name
- NCT06731036
- Testing
- CD34+ cell enriched stem cell graft
- Sponsor
- University of Florida
Pancreatic Ductal Adenocarcinoma, Pancreatic Cyst
The Pancreas Interception Center (PIC) for Early Detection, Prevention, and Novel Therapeutics
The long-term goal of our PIC is to develop effective strategies that can be applied clinically at the point-of-care to prevent, intercept, or detect PDAC at an early stage, thereby reducing PDAC burden and saving lives.
- Conditions
- Pancreatic Ductal Adenocarcinoma, Pancreatic Cyst, Chronic Pancreatitis, Fatty Pancreas
- Trial name
- NCT05692596
- Testing
- Data collection
- Where
- United States
- Volunteers
- 317 people, healthy volunteers welcome
- Sponsor
- H. Lee Moffitt Cancer Center and Research Institute
Prostatic Neoplasm, Prostate Cancer
Prostate Cancer Genetic Risk Evaluation and Screening Study
This study aims to define the natural history of men at high genetic risk for prostate cancer on the basis of specific germline genetic mutations, family history, or Black/African ancestry and evaluate the utility of prostate MRI…
- Conditions
- Prostatic Neoplasm, Prostate Cancer, BRCA2 Mutation, BRCA1 Mutation
- Trial name
- PROGRESS (NCT05129605)
- Testing
- Prostate cancer screening
- Where
- United States
- Volunteers
- 400 people
- Sponsor
- Massachusetts General Hospital
Lynch Syndrome
Predictive Factor Study of the Occurrence of Endometrial Cancer in Patients With Lynch Syndrome
Lynch Syndrome increases Endometrial Cancer Occurrence in women due to failure in MisMatch Repair System. Lifetime Cumulative risk of developing endometrial Cancer is approximatively 40% in women with Lynch Syndrome.
- Trial name
- PrediLynch (NCT04452266)
- Testing
- questionnaire assesment
- Where
- France
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- University Hospital, Lille
Cockayne Syndrome
Observational Study to Assess Natural History in Cockayne Syndrome Patients
This is an Observational Study of children under the age of 11 diagnosed with Cockayne Syndrome to assess the natural progression of Cockayne Syndrome disease, with special attention to hearing and physical changes in length or…
- Trial name
- NCT00985413
- Where
- 4 sites in United States, France and 1 more
- Volunteers
- 40 people
- Sponsor
- DNage B.V.
Ataxia Telangiectasia
Comparative Bioavailability of Betamethasone Oral Solution Metered Spray (GTX-102) in Healthy Subjects
A Randomized, Open-label, Crossover Study to Evaluate the Comparative Bioavailability, Pharmacokinetics, and Safety of GTX-102 Administered as an Oral Spray Compared to Intramuscular Injection - betamethasone and an Oral Solution…
- Trial name
- NCT05531890
- Testing
- GTX-102 medium dose fast Period 1 and Period 2, GTX-102 medium dose slow Period 1 and Period 2, GTX-102 high dose fast Period 1 and Period 2
- Where
- Canada
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Grace Therapeutics Inc.
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
Diamond Blackfan Anemia, Dyskeratosis Congenita
Cancer in Inherited Bone Marrow Failure Syndromes
Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders.
- Conditions
- Diamond Blackfan Anemia, Dyskeratosis Congenita, Fanconi Anemia, Shwachman Diamond Syndrome
- Trial name
- NCT00027274
- Where
- 2 sites in United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Acute Leukemia, Adenomatous Polyposis
Familial Investigations of Childhood Cancer Predisposition
NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll.
- Conditions
- Acute Leukemia, Adenomatous Polyposis, Adrenocortical Carcinoma, AML
- Trial name
- SJFAMILY (NCT03050268)
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- St. Jude Children's Research Hospital
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
Severe Combined Immune Deficiency (SCID)
Matched Related and Unrelated Donor Stem Cell Transplantation for Severe Combined Immune Deficiency (SCID): Busulfan-based Conditioning With h-ATG, Radiation, and Sirolimus
Background: Severe combined immune deficiency (SCID) is a group of conditions where the immune system does not work properly. The only cure for most SCIDs is a stem cell transplant (getting cells from a donor).
- Trial name
- NCT04370795
- Testing
- Sirolimus, Busulfan, Horse -Anti-thymocyte
- Where
- United States
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
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)
Fanconi Anemia
Stem Cell Transplantation for Fanconi Anemia
The purpose of this study is to determine whether thymic shielding during total body irradiation can be given and whether it will reduce the risk of infections in Fanconi Anemia patients undergoing alternate donor (not a matched…
- Trial name
- NCT00167206
- Testing
- Hematopoietic Stem Cell Transplant, Thymic Shielding During Radiation, Total Body Irradiation
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
BRCA1 Syndrome, BRCA2 Syndrome
Prostate Cancer Screening Among Men With High Risk Genetic Predisposition
This will be a prospective diagnostic trial of screening for prostate cancer among men with genetic predisposition.
- Conditions
- BRCA1 Syndrome, BRCA2 Syndrome, Lynch Syndrome
- Trial name
- NCT02053805
- Testing
- PSA, IPSS questionnaire, DRE (Digital Rectal Examination )
- Where
- 2 sites in Israel
- Volunteers
- 200 people
- Sponsor
- Rabin Medical Center
Colon Adenocarcinoma, DNA Repair Disorder
Combination Chemotherapy With or Without Atezolizumab in Treating Patients With Stage III Colon Cancer and Deficient DNA Mismatch Repair
This phase III trial studies combination chemotherapy and atezolizumab to see how well it works compared with combination chemotherapy alone in treating patients with stage III colon cancer and deficient deoxyribonucleic acid…
- Conditions
- Colon Adenocarcinoma, DNA Repair Disorder, Lynch Syndrome, Stage III Colon Cancer AJCC v8
- Trial name
- NCT02912559
- Testing
- Atezolizumab, Biospecimen Collection, Computed Tomography
- Where
- 1,049 sites in United States, Germany and 1 more
- Volunteers
- 712 people
- Sponsor
- National Cancer Institute (NCI)