Clinical trials: DNA Damage Repair Deficiency
SCID, Omenn's Syndrome
Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies
This is a standard of care treatment guideline for allogeneic hematopoetic stem cell transplant (HSCT) in patients with primary immune deficiencies.
- Conditions
- SCID, Omenn's Syndrome, Reticular Dysgenesis, Wiskott-Aldrich Syndrome
- Trial name
- NCT01652092
- Testing
- Alemtuzumab 0.3 mg, Cyclophosphamide, Busulfan
- Where
- United States
- Volunteers
- 57 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
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
Ataxia-Telangiectasia (A-T)
Expanded Access Program (EAP) of Levacetylleucine for Ataxia-Telangiectasia (A-T)
This expanded access program provides investigational levacetylleucine to patients with Ataxia-Telangiectasia who are not eligible for clinical trials and have no satisfactory alternative therapies.
- Trial name
- NCT07380165
- Testing
- Levacetylleucine
- Sponsor
- IntraBio Inc
Humoral Primary Immunodeficiencies (PIDs), Secondary Form of Humoral Immunodeficiencies
Study of Populations at Risk of Developing Chronic Hepatitis Linked to Chronic Enteric Virus Infection in Patients With Primary Immunodeficiency and Secondary Humoral Deficiency
Dysimmune and specially hepatic immuno-pathological processes are frequent in patients with PIDs (primary immune deficiencies), particularly but not exclusively in patients with humoral defects.
- Conditions
- Humoral Primary Immunodeficiencies (PIDs), Secondary Form of Humoral Immunodeficiencies, Combined Immunodeficiency (CID), Severe Combined Immunodeficiency (SCID)
- Trial name
- EVAH (NCT06659588)
- Testing
- Plasma, urine and stool collection
- Where
- 3 sites in France
- Volunteers
- 200 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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
Basal Cell Carcinoma of Skin, Site Unspecified, Epidermoid Carcinoma
Determining the Prevalence of Muir-Torre Syndrome in Patients With Lynch Syndrome
The main aim of this study is to determine the prevalence of Muir-Torre syndrome (MTS) in the population of patients with Lynch syndrome (LS) confirmed by genetic analysis.
- Conditions
- Basal Cell Carcinoma of Skin, Site Unspecified, Epidermoid Carcinoma, Lynch Syndrome, Muir-Torre Syndrome
- Trial name
- SMT-SL (NCT07201012)
- Testing
- Sampling of suspected skin lesions (in accordance with good care practices)., Constitution of a biobank
- Where
- France
- Volunteers
- 150 people
- Sponsor
- Centre Hospitalier Universitaire de Nīmes
Fanconi Anemia
Pilot Study of Etanercept (Enbrel) in Children With Fanconi Anemia
The purpose of this research study is to evaluate the safety of the drug Etanercept (Enbrel) and to determine if this drug can help in the treatment of early bone marrow failure in patients with Fanconi anemia.
- Trial name
- NCT00965666
- Testing
- Etanercept
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
SCID, ADA-SCID
Patients Treated for SCID (1968-Present)
Individuals with a past diagnosis of severe combined immune deficiency (including many cases of "leaky SCID", Omenn syndrome, and reticular dysgenesis) who have undergone blood and marrow transplant, gene therapy, or enzyme…
- Conditions
- SCID, ADA-SCID, XSCID, Leaky SCID
- Trial name
- NCT01346150
- Where
- 36 sites in United States, Canada
- Volunteers
- 1,007 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Fanconi's Anemia
Phase I Pilot Study of CD34 Enriched, Fanconi's Anemia Complementation Group C Gene Transduced Autologous Peripheral Blood Stem Cell Transplantation in Patients With Fanconi's Anemia
OBJECTIVES: I. Determine the safety of transferring the Fanconi anemia complementation group C (FACC) gene to hematopoietic progenitors by retroviral mediated gene transfer in patients with Fanconi's anemia, complementation group…
- Trial name
- NCT00005896
- Testing
- filgrastim, Autologous stem cells transduced with FACC retroviral vector, Autologous Stem Cell Transplantation
- Volunteers
- 6 people
- Sponsor
- University of Minnesota
Haematological Malignancy, Acute Leukemia
A Study to Assess a Physical Activity Program in Children, Adolescents and Young Adults Requiring Hematopoietic Stem Cell Allografts
To date, allogeneic haematopoietic stem cell transplantation (aHSCT) is the only curative treatment for many paediatric and young adult haematological pathologies (acute leukaemia, myelodysplastic syndromes, haemoglobinopathies…
- Conditions
- Haematological Malignancy, Acute Leukemia, Myelodysplastic Syndromes, Hemoglobinopathy in Children
- Trial name
- EVAADE (NCT04331483)
- Testing
- Physical activity program
- Where
- France
- Sponsor
- Centre Leon Berard
Fanconi Anemia, Inherited Bone Marrow Failure Syndrome
Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia
Background: Fanconi anemia (FA) is an inherited disorder. People with FA are more likely to get certain cancers, especially squamous cell carcinoma (SCC).
- Trial name
- NCT05687149
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- National Cancer Institute (NCI)
Bone Marrow Failure Syndrome
French National Registry of Bone Marrow Failures
This is a unique clinical and biological database that collects standardized clinical information during the management of all patients with bone marrow failure syndromes (BMF) in France (multicenter registry), from diagnosis and…
- Trial name
- RIME (NCT04781790)
- Testing
- Bone Marrow Failure
- Where
- France
- Volunteers
- 5,000 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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
Fanconi's Anemia, Hematologic Disease
Medical Treatment for Diamond Blackfan Anemia
Diamond Blackfan anemia (DBA) is a condition in which the bone marrow is underdeveloped. DBA is considered a congenital disease, meaning patients are born with it.
- Trial name
- NCT00001749
- Testing
- Antithymocyte globulin, Cyclosporine
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Fanconi Anemia
Cyclophosphamide in Treating Patients Who Are Undergoing a Donor Bone Marrow Transplant for Fanconi's Anemia
RATIONALE: Giving low doses of chemotherapy, such as cyclophosphamide, before a donor bone marrow transplant helps stop the growth of abnormal cells.
- Trial name
- NCT00317876
- Testing
- cyclophosphamide, cyclosporine, methotrexate
- Where
- 3 sites in United States, Brazil
- Volunteers
- 25 people
- Sponsor
- Fred Hutchinson Cancer Center
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)
Fanconi Anemia
Oxandrolone for the Treatment of Bone Marrow Aplasia in Fanconi Anemia
The purpose of this study is to evaluate the safety of the drug oxandrolone (a type of androgen steroid) in patients with Fanconi anemia (FA), and to determine if this drug can help in the treatment of bone marrow failure in…
- Trial name
- NCT00243399
- Testing
- Oxandrolone
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Fanconi Anemia
Hematopoietic Stem Cell Transplant for Fanconi Anemia
The trial proposed is a single arm phase II treatment protocol designed to examine engraftment, toxicity, graft-versus-host disease, and ultimate disease-free survival following a novel cytoreductive regimen including busulfan…
- Trial name
- FA (NCT01071239)
- Testing
- CliniMACs device, Busulfan, Fludarabine
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Medical College of Wisconsin
Hematologic Malignancies, Nonmalignant Diseases
Study of Melphalan Drug Exposure in Pediatric Hematopoietic Stem Cell Transplant Patients
Melphalan 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 melphalan in their bodies and if drug…
- Conditions
- Hematologic Malignancies, Nonmalignant Diseases, Immunodeficiencies, Hemoglobinopathies
- Trial name
- NCT03609827
- Testing
- Melphalan
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- University of California, San Francisco
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