Clinical trials: DNA Repair Disorder
Adult Acute Myeloid Leukemia in Remission, Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities
Low-Dose Total-Body Irradiation and Fludarabine Phosphate Followed by Unrelated Donor Stem Cell Transplant in Treating Patients With Fanconi Anemia
Based on success in other diseases, the Fred Hutchinson Cancer Research Center (FHCRC) has developed a transplant procedure for Fanconi anemia (FA), which does not completely destroy the patient's remaining bone marrow.
- Conditions
- Adult Acute Myeloid Leukemia in Remission, Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities, Adult Acute Myeloid Leukemia With Del(5q), Adult Acute Myeloid Leukemia With Inv(16)(p13;q22)
- Trial name
- NCT00093743
- Testing
- fludarabine phosphate, cyclosporine, total-body irradiation
- Where
- 5 sites in United States
- Volunteers
- 2 people
- Sponsor
- Fred Hutchinson Cancer Center
Lynch Syndrome
Lynch Syndrome Integrative Epidemiology and Genetics
The vision of the "Lynch syndrome INtegrative Epidemiology And GEnetics" (LINEAGE) Consortium is to collaboratively improve the lives and longevity of individuals and families with Lynch syndrome.
- Trial name
- LINEAGE (NCT06582914)
- Where
- 2 sites in United States
- Volunteers
- 5,000 people
- Sponsor
- University of Colorado, Denver
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
Lynch Syndrome
Naproxen in Preventing DNA Mismatch Repair Deficient Colorectal Cancer in Patients With Lynch Syndrome
This randomized phase Ib trial studies the side effects and best dose of naproxen in preventing deoxyribonucleic acid (DNA) mismatch repair deficient colorectal cancer in patients with Lynch syndrome.
- Trial name
- NCT02052908
- Testing
- Laboratory Biomarker Analysis, Naproxen
- Where
- 4 sites in United States
- Volunteers
- 81 people
- Sponsor
- National Cancer Institute (NCI)
Severe Combined Immunodeficiency, Atypical
Generalized Neonatal Screening of Severe Combined Immunodeficiencies
Severe combined Immunodeficiencies ( SCID ) are a group of inherited diseases of the immune system by characterised profound abnormalities of T cell development .
- Trial name
- DEPISTREC (NCT02244450)
- Testing
- SCID screening
- Where
- 51 sites in France
- Volunteers
- 190,539 people, healthy volunteers welcome
- Sponsor
- Nantes University Hospital
Colorectal Cancer, Gastric Cancer
Familial Colorectal Cancer Registry in Hispanics
Colorectal cancer (CRC) is the second leading cause of cancer in Puerto Rico (PR) accounting for approximately 1,500 individuals annually, which represent 12% of all cancer cases in the island.
- Conditions
- Colorectal Cancer, Gastric Cancer, Colorectal Neoplasms, Colorectal Adenoma
- Trial name
- PURIFICAR (NCT00927680)
- Where
- 2 sites in Puerto Rico
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- University of Puerto Rico
Prostate Cancer
Analysing Outcomes After Prostate Cancer Diagnosis and Treatment in Carriers of Rare Germline Mutations
GENPROS aims to analyse the outcomes of patients with rare gene mutations in the cancer predisposition genes, BRCA1, BRCA2, HOXB13, and Lynch Syndrome, after a diagnosis of and treatment for prostate cancer (PCa).
- Trial name
- GENPROS (NCT02705846)
- Testing
- Observation of treatment outcomes via Questionnaire
- Where
- United Kingdom
- Volunteers
- 4,260 people
- Sponsor
- Institute of Cancer Research, United Kingdom
Severe Combined Immunodeficiency
Haplocompatible Transplant Using TCRα/β Depletion Followed by CD45RA-Depleted Donor Lymphocyte Infusions for Severe Combined Immunodeficiency (SCID)
Infants with severe combined immunodeficiency (SCID) have a profound decrease in number and function of immune cells, and therefore remain highly vulnerable to infection. If not corrected this often leads to death.
- Trial name
- NCT03597594
- Testing
- Anti-thymocyte globulin (rabbit), Busulfan, Fludarabine
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- St. Jude Children's Research Hospital
Fanconi Anemia
Corrective Exercise and Rehabilitation in Fanconi Anemia: A Case Study
Introduction: Fanconi anemia (FA) is a rare autosomal recessive DNA repair disorder characterized by congenital malformations, progressive bone marrow failure, and reduced quality of life.
- Trial name
- NCT06958380
- Testing
- Corrective exercise and rehabilitation
- Where
- Iran
- Volunteers
- 1 people
- Sponsor
- Pardis Specialized Wellness Institute
Prostate Cancer
Study of Talazoparib With Enzalutamide in Men With DDR Gene Mutated mCSPC
The purpose of the study is to evaluate the safety and efficacy of talazoparib in combination with enzalutamide compared with placebo in combination with enzalutamide in participants with DDR-deficient mCSPC.
- Trial name
- NCT04821622
- Testing
- talazoparib plus enzalutamide
- Where
- 312 sites in United States, Argentina and 25 more
- Volunteers
- 599 people
- Sponsor
- Pfizer
Fanconi Anemia
Experience and Management of Cancer Screening-Related Anxiety in Fanconi Anemia
Background: Fanconi anemia (FA) is a rare, inherited cancer syndrome. FA causes a range of physical issues. Children with FA may have abnormal features; these may include a small head and eyes and issues with their internal…
- Trial name
- NCT06744283
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- National Cancer Institute (NCI)
Li-Fraumeni Syndrome, Neoplasms
Clinical and Genetic Studies of Li-Fraumeni Syndrome
Background: Li-Fraumeni syndrome (LFS) is a genetic condition that increases the risk for some types of cancer. LFS may lead to cancer of the bone or connective tissue, breast, and brain.
- Conditions
- Li-Fraumeni Syndrome, Neoplasms, Tp53 Mutations
- Trial name
- NCT01443468
- Where
- 2 sites in United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Colorectal Cancer, Adenoma Colon
Liquid Biopsy and Machine Learning for Early Colorectal Cancer, Adenomas, Lynch Cancers, and Residual Disease Detection
This is an multicenter study that will test the diagnostic accuracy of a blood test (i.e., a liquid biopsy) for the diagnosis of colorectal cancer (CRC), advanced adenomas (AAs), as well as Lynch-syndrome associated cancers.
- Conditions
- Colorectal Cancer, Adenoma Colon, Adenoma Colon Polyp, Colon Adenoma
- Trial name
- BEACON (NCT07450612)
- Testing
- BEACON
- Where
- 4 sites in Italy
- Volunteers
- 1,200 people, healthy volunteers welcome
- Sponsor
- San Raffaele University
Cancer, Breast Cancer
Liquid Biopsy Evaluation and Repository Development at Princess Margaret
The objective of this protocol is to develop an institution-wide liquid biopsy protocol that will establish a common process for collecting blood and corresponding archived tumor specimens for future research studies at the…
- Conditions
- Cancer, Breast Cancer, Lung Cancer, Colon Cancer
- Trial name
- LIBERATE (NCT03702309)
- Where
- Canada
- Volunteers
- 2,500 people, healthy volunteers welcome
- Sponsor
- University Health Network, Toronto
Solid Tumors
Tabectedin to Treat Children and Adolescents With Cancer
Background: Trabectedin is an experimental drug that kills some cancer cells in the laboratory and in mice by interfering with genetic material (DNA) in cancer cells.
- Trial name
- NCT01453283
- Testing
- Trabectedin (ecteinascidin-743, ET-743, YONDELIS [R])
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- National Cancer Institute (NCI)
Ataxia Telangiectasia
Neurofilament Light- Chain in Ataxia Telangiectasia
Ataxia telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability, and cancer susceptibility.
- Trial name
- NCT04605523
- Testing
- blood withdrawal
- Where
- Germany
- Volunteers
- 40 people
- Sponsor
- Johann Wolfgang Goethe University Hospital
Lynch Syndrome, Recurrent Endometrial Carcinoma
Tislelizumab for the Treatment of Recurrent Mismatch Repair Deficient Endometrial Cancer
This clinical trial evaluates the effect of tislelizumab in treating patients with mismatch repair deficient endometrial cancer that has come back (recurrent).
- Conditions
- Lynch Syndrome, Recurrent Endometrial Carcinoma, Recurrent Endometrial Clear Cell Adenocarcinoma, Recurrent Uterine Corpus Carcinosarcoma
- Trial name
- NCT04906382
- Testing
- Biopsy, Carboplatin, Paclitaxel
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Floor Backes, MD
Cockayne Syndrome, Skin Neoplasms
Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
Four rare genetic diseases, xeroderma pigmentosum (XP), Cockayne syndrome (CS), the XP/CS complex and trichothiodystrophy (TTD) have defective DNA excision repair although only XP has increased cancer susceptibility.
- Conditions
- Cockayne Syndrome, Skin Neoplasms, Xeroderma Pigmentosum, Trichothiodystrophy Syndromes
- Trial name
- NCT00001813
- Where
- United States
- Volunteers
- 709 people
- Sponsor
- National Cancer Institute (NCI)