Clinical trials: DNA Damage Repair Deficiency
Severe Combined Immunodeficiency, T Cell Lymphocytopenia
Newborn Screening for Severe Combined Immunodeficiency (SCID) in a High-Risk Population
The goal of the proposed research is to establish the validity of a newborn screening method for severe combined immunodeficiency (SCID).
- Trial name
- NCT00845416
- Where
- 2 sites in United States
- Volunteers
- 1,800 people
- Sponsor
- University of California, San Francisco
Fanconi Anemia
FANCA Gene Transfer for Fanconi Anemia Using a High-safety, High-efficiency, Self-inactivating Lentiviral Vector
This is a Phase I/II clinical trial of gene therapy for treating Fanconi anemia using a self-inactivating lentiviral vector to functionally correct the defective gene.
- Trial name
- NCT03351868
- Testing
- Gene-modified autologous stem cells
- Where
- China
- Volunteers
- 10 people
- Sponsor
- Shenzhen Geno-Immune Medical Institute
Congenital Amegakaryocytic Thrombocytopenia, Diamond-blackfan Anemia
Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remission
RATIONALE: Drugs used in chemotherapy, such as busulfan and fludarabine, work in different ways to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing.
- Conditions
- Congenital Amegakaryocytic Thrombocytopenia, Diamond-blackfan Anemia, Fanconi Anemia, Leukemia
- Trial name
- NCT00305708
- Testing
- anti-thymocyte globulin, busulfan, fludarabine phosphate
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- University of California, San Francisco
Fanconi Anemia
Time-restricted Feeding to Reduce Inflammation in Fanconi Anemia
The main reason for this research study is to determine whether time-restricted eating will reduce inflammation in the bodies of persons with Fanconi anemia (FA) and whether time-restricted eating will improve function in people…
- Trial name
- NCT05598515
- Testing
- Time-Restricted Feeding
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
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
Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes
Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT
The objective of this study is to evaluate the efficacy of using a reduced-intensity condition (RIC) regimen with umbilical cord blood transplant (UCBT), double cord UCBT, matched unrelated donor (MUD) bone marrow transplant…
- Conditions
- Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias
- Trial name
- HSCT+RIC (NCT01962415)
- Testing
- Hydroxyurea, Alemtuzumab, Fludarabine
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Paul Szabolcs
Li-Fraumeni Syndrome
Li-Fraumeni Syndrome Imaging Study
Li-Fraumeni Syndrome (LFS) is a cancer predisposition disorder in which most affected individuals develop cancer during their lifetime.
- Trial name
- NCT03176836
- Testing
- Whole body STIR MRI, DW-MRI, PET-MRI
- Where
- Canada
- Volunteers
- 30 people
- Sponsor
- The Hospital for Sick Children
Fanconi Anemia
Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and Plerixafor
The purpose of this study is to assess the feasibility of Plerixafor used in combination with G-CSF (Granulocyte Colony Stimulating Factor) in 5 Fanconi anemia patients to mobilize and collect a sufficient number of peripheral…
- Trial name
- FancoMob (NCT02678533)
- Testing
- G-CSF, Plerixafor
- Where
- France
- Volunteers
- 4 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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)
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
Non Malignant Disorders, Immunodeficiencies
Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders
The primary objective is to determine the feasibility of attaining acceptable rates of donor cell engraftment (>25% donor chimerism at 180 days) following reduced intensity conditioning (RIC) regimens in pediatric patients < 21…
- Conditions
- Non Malignant Disorders, Immunodeficiencies, Congenital Marrow Failures, Hemoglobinopathies
- Trial name
- NCT00744692
- Testing
- Unrelated Umbilical Cord Blood Transplant, Reduced Intensity Conditioning
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- Duke University
Ataxia Telangiectasia
Immunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia Patients
Ataxia-telangiectasia (AT) is a rare genetic disorder characterized by gait disorders, neuromotor dysfunction, eye abnormalities and immune deficiency.
- Trial name
- NCT01075438
- Testing
- Prevenar® (7-valent pneumococcal conjugate vaccine), Pneumovax® (pneumococcal polysaccharide vaccine)
- Where
- Israel
- Volunteers
- 20 people
- Sponsor
- Sheba Medical Center
Bone Marrow Failure Syndrome, Thalassemia
Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation
In this study, the investigators test 2 dose levels of thiotepa (5 mg/kg and 10 mg/kg) added to the backbone of targeted reduced dose IV busulfan, fludarabine and rabbit anti-thymocyte globulin (rATG) to determine the minimum…
- Conditions
- Bone Marrow Failure Syndrome, Thalassemia, Sickle Cell Disease, Diamond Blackfan Anemia
- Trial name
- NCT03513328
- Testing
- Thiotepa--single daily dose, Thiotepa--escalated dose
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- University of Florida
Dyskeratosis Congenita, Fanconi Anemia
Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment
RATIONALE: Studying biopsy, bone marrow, and blood samples from patients with cytopenia that did not respond to treatment may help doctors learn more about the disease and plan the best treatment.
- Conditions
- Dyskeratosis Congenita, Fanconi Anemia, Myelodysplastic Syndromes, Pearson Marrow-pancreas Syndrome
- Trial name
- NCT00499070
- Testing
- polymerase chain reaction, flow cytometry, immunologic technique
- Where
- 10 sites in Austria, Belgium and 8 more
- Volunteers
- 119 people
- Sponsor
- University Hospital Freiburg
Graft Versus Host Disease
Acute GVHD Suppression Using Costimulation Blockade to Expand Non-malignant Transplant
This trial will see if extended abatacept administration (combined with a standard regimen of tacrolimus and mycophenolate mofetil) will prevent acute and chronic graft-versus-host disease (GVHD) in children and adolescents…
- Trial name
- ASCENT (NCT03924401)
- Testing
- Abatacept
- Where
- 9 sites in United States
- Volunteers
- 30 people
- Sponsor
- Emory University
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
Ataxia Telangiectasia in Children, Ataxia Telangiectasia
Home-based Complex Intervention for Children With Ataxia Telangiectasia
Ataxia telangiectasia is a rare, genetic and progressive condition with no known cure. Therapies present a mainstream management option and have the potential to offer optimisation of fitness and general health.
- Trial name
- NCT05692622
- Testing
- Whole-body exercise and respiratory exercise
- Where
- United Kingdom
- Volunteers
- 40 people
- Sponsor
- University of Plymouth
Microcephaly
Microcephaly Genetic Deficiency in Neural Progenitors
The purpose of this study is to: I. Compare neuroradiological phenotype and cognitive functioning of MCPH patients caused by ASPM mutations already characterized and published (Passemard et al.
- Trial name
- MICROFANC (NCT01565005)
- Where
- France
- Volunteers
- 98 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Huntington Disease, Hereditary Breast and Ovarian Cancer
Genetic Risk: Whether, When, and How to Tell Adolescents
This study is being conducted to learn more about family communication of genetic risk information. Semi-structured interviews lasting up to one hour will be conducted with three populations: parent/child pairs at risk for…
- Conditions
- Huntington Disease, Hereditary Breast and Ovarian Cancer, Hereditary Cancer, Hereditary Non-polyposis Colon Cancer
- Trial name
- NCT03421327
- Where
- United States
- Volunteers
- 85 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins University
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.