View clinical trials related to Fanconi Syndrome.
Filter by:The goal of this study is to see if the study therapy can decrease the chemotherapy-related side effects while maximizing the effectiveness of disease control. The physicians will also be studying the effect of removing T-cells from the donor"s stem cells before transplant. T-cells are a type of white blood cell that may help cause a serious side effect of transplant called Graft versus Host Disease (GVHD). The way it removes the T-cells from the donor stem cells is actually by selecting only the stem cells (called CD34 cells) by using a device called CliniMACS. This process is called CD34 selection. The CliniMACS® device is currently under the supervision of the FDA .
Fanconi anemia (FA) is an autosomal recessive disease characterized by progressive bone marrow failure, variable congenital abnormalities and a predisposition to malignancy, particularly acute myeloid leukemia (AML) and squamous cell carcinoma (SCC). Improved transplant outcomes are modifying the natural history of Fanconi Anemia. Improved transplant survival, no radiation exposure, and almost no GVHD increases the importance of addressing later SCC even further. The investigators hypothesize that quercetin will prevent or delay the development of SCC and associated complications, there by ameliorating or delaying the need for potentially lethal treatment with chemotherapy and/or radiation therapy for the same. Funding Source - FDA Office of Orphan Products Development (OOPD)
This is a single institution, open-label, single arm pilot study of Metformin in patients with Fanconi Anemia (FA) and cytopenias with the primary endpoint of hematologic response. This study will also assess safety, tolerability, and the biologic effects of Metformin in patients with FA.
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. The objectives are to evaluate the safety and efficacy of the gene transfer clinical protocol.
Background: Fanconi anemia is a genetic disease. Some people with it have reduced blood cell counts. This means their bone marrow no longer works properly. These people may need blood transfusions for anemia (low red blood cells) or low platelet counts or bleeding. Researchers want to see if a new drug will help people with this disease. Objective: To find out if a new drug, eltrombopag, is effective in people with Fanconi anemia. To know how long the drug needs to be given to improve blood counts. Eligibility: People at least 6 years old with Fanconi anemia with reduced blood cell counts. Design: Participants will be screened with blood and urine tests. They will repeat this before starting to take the study drug. Participants will take eltrombopag pills by mouth once a day for 24 weeks. They will be monitored closely for side effects. Participants will have blood tests every 2 weeks while on eltrombopag. Participants will visit NIH 3 months and 6 months after starting eltrombopag. At these visits, participants will: Answer questions about their medical history, how they are feeling, and their quality of life Have a physical exam Have blood and urine tests Have a bone marrow sample taken by needle from the hip. The area will be numbed. If participants blood cell counts improve, they might join the extended access part of the study. They will continue taking eltrombopag for 3 years and sign a different consent. After 24 weeks of treatment, if there is no improvement in blood cell counts, participants will stop taking eltrombopag. They will return for an optional follow-up visit that repeats the study visits....
This is an open, Phase I / II clinical trial to evaluate the safety and efficacy of a hematopoietic gene therapy procedure with an orphan drug consisting of a lentiviral vector carrying the FANCA gene for patients with Fanconi Anemia of Subtype A . CD34 + cells derived from bone marrow and / or mobilized peripheral blood (fresh and / or cryopreserved) from patients with Fanconi subtype A (FA-A), will be transduced ex vivo with a lentiviral vector carrying the gene FANCA (orphan drug) . After transduction the cells will be inoculated in patients in order to restore their hematopoiesis with genetically corrected stem cells.
Fanconi anemia (FA) is a congenital disease characterized by bone marrow failure and increased incidence of malignant tumors. The Project pursue the optimization of the collection of hematopoietic progenitor cells for later use in another clinical trial entitled "Clinical Trial Phase I/II to evaluate the safety and efficacy of the infusion of autologous CD34+ cells mobilized with mozobil and filgrastim, and transduced with a lentiviral vector carrying the FANCA gene (Orphan Drug) for patients with Fanconi Anemia Subtype A ". The objectives of this study are, therefore, to assess the safety and efficacy of CD34+ cells mobilization with mozobil and filgrastim, which is postulated the most efficient for the collection of CD34+ cells from FA patients.
Development of a new mass spectrometry-based biomarker for the early and sensitive diagnosis of Cystinosis disease from the blood
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 blood CD34+ cells for peripheral blood apheresis, for further gene therapy study.
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). Patients will undergo a transplant utilizing mis-matched related or matched unrelated donors following a preparative regimen of busulfan, fludarabine, anti-thymocyte globulin and cyclophosphamide.