Clinical trials: DNA Damage Repair Deficiency
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, Recurrent Uterine Corpus Carcinoma
Biomarkers in Samples From Patients With Endometrial Cancer
This research study is studying biomarkers in samples from patients with endometrial cancer. Studying samples from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify…
- Conditions
- Lynch Syndrome, Recurrent Uterine Corpus Carcinoma, Stage I Uterine Corpus Cancer, Stage II Uterine Corpus Cancer
- Trial name
- NCT01199250
- Testing
- Laboratory Biomarker Analysis
- Where
- United States
- Sponsor
- Gynecologic Oncology Group
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)
Fanconi Anemia
Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia
RATIONALE: A bone marrow or umbilical cord blood transplant may be able to replace blood-forming cells that were destroyed by chemotherapy.
- Trial name
- NCT00258427
- Testing
- anti-thymocyte globulin, filgrastim, busulfan
- Where
- United States
- Volunteers
- 14 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Fanconi Anemia, Dyskeratosis Congenita
Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita
Fanconi anemia (FA) and Dyskeratosis congenita (DC) are inherited bone marrow failure syndromes. The current androgen treatments (e.g., oxymetholone) used to treat FA and DC can cause unwanted masculinizing side effects…
- Trial name
- NCT01001598
- Testing
- danazol
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Boston Children's Hospital
Fanconi Anemia, Anemia, Hypoplastic, Congenital
Prenatal Transplantation for Fetuses With Fanconi Anemia
The investigators aim to evaluate the safety and efficacy of in utero hematopoietic stem cell transplantation (IUHSCT) for the treatment of fetuses diagnosed with Fanconi anemia (FA) during pregnancy.
- Conditions
- Fanconi Anemia, Anemia, Hypoplastic, Congenital, Congenital Bone Marrow Failure Syndromes, Bone Marrow Failure Disorders
- Trial name
- NCT07408583
- Testing
- IUHSCT for FA-affected fetuses
- Where
- 2 sites in United States
- Volunteers
- 12 people
- Sponsor
- Agnieszka Czechowicz
Severe Combined Immunodeficiency
Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China
Severe combined immunodeficiency (SCID), a rare primary immunodeficiency dieases (PID), is poorly characterized in mainland China.
- Trial name
- NCT02231983
- Testing
- gene sequencing
- Where
- China
- Volunteers
- 50 people
- Sponsor
- Shanghai Children's Medical Center
Leukodystrophy, White Matter Disease
The Myelin Disorders Biorepository Project
The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects.
- Conditions
- Leukodystrophy, White Matter Disease, Leukoencephalopathies, 4H Syndrome
- Trial name
- MDBP (NCT03047369)
- Where
- 23 sites in United States
- Volunteers
- 12,000 people
- Sponsor
- Children's Hospital of Philadelphia
Constitutional Mismatch Repair Deficiency Syndrome, Hematopoietic and Lymphoid Cell Neoplasm
Testing the Combination of Two Immunotherapy Drugs (Nivolumab and Ipilimumab) in Children, Adolescent, and Young Adult Patients With Relapsed/Refractory Cancers That Have an Increased Number of Genetic Changes, The 3CI Study
This phase Ib trial investigates the side effects of the combination of nivolumab and ipilimumab, and to see how well they work in treating patients with cancers that have come back (relapsed) or does not respond to treatment…
- Conditions
- Constitutional Mismatch Repair Deficiency Syndrome, Hematopoietic and Lymphoid Cell Neoplasm, Lynch Syndrome, Recurrent Lymphoma
- Trial name
- NCT04500548
- Testing
- Biospecimen Collection, Ipilimumab, Nivolumab
- Where
- 9 sites in United States, Canada
- Sponsor
- National Cancer Institute (NCI)
Hematologic Malignancies, Nonmalignant Diseases
Study of Fludarabine Drug Exposure in Pediatric Bone Marrow Transplantation
Fludarabine is a chemotherapy drug used extensively in bone marrow transplantation. The goal of this study is to determine what causes some children to have different drug concentrations of fludarabine in their bodies and if drug…
- Conditions
- Hematologic Malignancies, Nonmalignant Diseases, Immunodeficiencies, Hemoglobinopathies
- Trial name
- HCT (NCT01316549)
- Testing
- Fludarabine
- Where
- United States
- Volunteers
- 67 people
- Sponsor
- University of California, San Francisco
Ataxia Telangiectasia, Leukemia
Treatment of Leukemia and Lymphoma in Children With Ataxia Telangiectasia
Ataxia telangiectasia (A-T) is a multisystem disease with diverse manifestations, including progressive neurodegeneration, immunodeficiency, respiratory disease, and genomic instability.
- Conditions
- Ataxia Telangiectasia, Leukemia, Lymphoma
- Trial name
- NCT04037189
- Where
- Israel
- Volunteers
- 250 people
- Sponsor
- Rabin Medical Center
Severe Combined Immunodeficiency
Gene Transfer for Severe Combined Immunodeficiency, X-linked (SCID-X1) Using a Self-inactivating (SIN) Gammaretroviral Vector
Researchers are working on ways to treat SCID patients who don't have a matched brother or sister. One of the goals is to avoid the problems that happen with stem cell transplant from parents and unrelated people, such as repeat…
- Trial name
- NCT01129544
- Testing
- Gene transfer
- Where
- 3 sites in United States
- Volunteers
- 8 people
- Sponsor
- David Williams
Fanconi Anemia, Severe Marrow Failure
HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy
The purpose of this study is to determine whether the use of lower doses of busulfan and the elimination of cyclosporine will further reduce transplant-related side effects for patients with Fanconi Anemia (FA).
- Conditions
- Fanconi Anemia, Severe Marrow Failure, Myelodysplastic Syndrome (MDS), Acute Myelogenous Leukemia (AML)
- Trial name
- RAFA (NCT02143830)
- Testing
- Busulfan, Cyclophosphamide, Fludarabine
- Where
- 3 sites in United States
- Volunteers
- 70 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Shwachman Syndrome, Fanconi's Anemia
Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes
OBJECTIVES: I. Assess the efficacy of recombinant human granulocyte colony-stimulating factor (G-CSF) in raising the absolute neutrophil count, platelet count, and hemoglobin level in patients with inherited bone marrow failure…
- Conditions
- Shwachman Syndrome, Fanconi's Anemia, Dyskeratosis Congenita, Thrombocytopenia
- Trial name
- NCT00004787
- Testing
- filgrastim
- Volunteers
- 20 people
- Sponsor
- National Center for Research Resources (NCRR)
Fanconi Anemia, Unspecified Adult Solid Tumor, Protocol Specific
Tissue Sample Collection From Patients With Fanconi Anemia
RATIONALE: Collecting and storing samples of tumor tissue from patients with Fanconi anemia to test in the laboratory may help the study of cancer in the future.
- Conditions
- Fanconi Anemia, Unspecified Adult Solid Tumor, Protocol Specific, Unspecified Childhood Solid Tumor, Protocol Specific
- Trial name
- NCT00899522
- Testing
- biologic sample preservation procedure, biopsy
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- OHSU Knight Cancer Institute
Ileal Pouch-Anal Anastomosis
Ileal Pouch-Anal Anastomosis Registry
Little is known about the factors that predispose patients to complications after an ileal pouch-anal anastomosis procedure (IPAA).
- Trial name
- IPAA (NCT01026480)
- Where
- United States
- Volunteers
- 936 people
- Sponsor
- Boston Medical Center
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
Li-Fraumeni Syndrome, TP53 Gene Mutation
Li-Fraumeni & TP53 (LiFT UP): Understanding and Progress
The purpose of this research study is to learn more about variants in the TP53 gene both associated with Li-Fraumeni Syndrome (LFS), a hereditary cancer risk condition, and TP53 variants found in the blood for other reasons (e.g.
- Conditions
- Li-Fraumeni Syndrome, TP53 Gene Mutation, Hereditary Cancer Syndrome, Clonal Hematopoiesis
- Trial name
- LiFT_UP (NCT04541654)
- Testing
- Data and Specimen Collection
- Where
- 3 sites in United States
- Volunteers
- 1,500 people
- Sponsor
- Dana-Farber Cancer Institute
Psuedomas Infection, Cystic Fibrosis
The Role of Bacteria and Genetic Variations in Cystic Fibrosis
This study will examine 1) the role of hereditary factors in cystic fibrosis; i.e., the relationship of the disease to specific gene variations, and 2) the role of bacterial products involved in lung infections substances…
- Trial name
- NCT00043225
- Where
- 4 sites in United States
- Volunteers
- 76 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Chronic Myeloproliferative Disorders, Diamond-blackfan Anemia
Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer
RATIONALE: Giving chemotherapy and total-body irradiation before a donor umbilical cord blood transplant helps stop the growth of cancer and abnormal cells and helps stop the patient's immune system from rejecting the donor's…
- Conditions
- Chronic Myeloproliferative Disorders, Diamond-blackfan Anemia, Fanconi Anemia, Graft Versus Host Disease
- Trial name
- NCT00290628
- Testing
- anti-thymocyte globulin, busulfan, cyclophosphamide
- Where
- United States
- Volunteers
- 43 people
- Sponsor
- Masonic Cancer Center, University of Minnesota