View clinical trials related to Fanconi Syndrome.
Filter by:This is a genetic disease (transmitted through the parents' genes) called Fanconi Anemia. Because of that genetic disease, the bone marrow has changed and now has failed, or has given rise to a preleukemia called myelodysplastic syndrome (MDS) or leukemia (acute myelogenous leukemia or AML). Without treatment these complications of Fanconia anemia (FA) are fatal. The only treatment that can cure these complications is an allogeneic transplant of stem cells, meaning, giving the patient bone marrow cells from a healthy donor that can produce normal blood cells that will replace the bone marrow that is sick. What has been given for the treatment of FA in the past is to use a combination of low doses of radiation to the whole body (total body irradiation) and low doses of the chemotherapy drugs (cyclophosphamide and fludarabine) before the transplant. However, the use of radiation can, later on, increase the chances of getting a second cancer of the skin, head or the neck. These chances of a second cancer are higher than normal in patients with FA. The purpose of this study is to find out if the doctors can do the same thing with the same chemotherapy drugs used in the past. However physicians will use another chemotherapy drug called busulfan instead of the radiation. The goal of this study is to get rid of the short term and long term risks of the radiation. The first new part of this treatment will be to replace drugs for radiation with chemotherapy drugs.
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.
RATIONALE: Analyzing tissue and blood samples from healthy volunteers or patients with Fanconi anemia, myelodysplasia, myeloproliferative disorders, or myeloma in the laboratory may help doctors learn more about the causes of blood cancers. PURPOSE: The purpose of this study is to analyze in the laboratory blood and bone marrow cells from healthy volunteers or patients with Fanconi anemia, myeloproliferative disorders, or myeloma.
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. PURPOSE: This laboratory study is collecting and storing tumor tissue samples from patients with Fanconi anemia.
Cystinosis is an inheritable disease that if untreated, results in kidney failure as early as the first decade of life. The current marketed therapy is Cystagon® (cysteamine bitartrate) which must be taken every six hours for the rest of the patient's life to prevent complications of cystinosis. RP103 is a formulation of cysteamine bitartrate that is being studied to see if it may be able to be given less frequently, once every 12 hours, and have similar results.
RATIONALE: Giving chemotherapy, such as cyclophosphamide and fludarabine, before a donor stem cell transplant helps to remove the patient's cells to allow for the transplant cells to take and grow. It also helps stop the patient's immune system from rejecting the donor's stem cells. When the healthy stem cells from a donor are infused into the patient, they may help the patient's bone marrow make stem cells, red blood cells, white blood cells, and platelets. Sometimes the transplanted cells can make an immune response against the body's normal cells. Giving antithymocyte globulin and removing the T cells from the donor cells before transplant and giving cyclosporine before and after transplant may stop this from happening. PURPOSE: This phase I/II trial is studying the side effects of cyclophosphamide, fludarabine, and antithymocyte globulin followed by donor stem cell transplant and to see how well it works in treating patients with Fanconi anemia.
The purpose of this research study is to: (1) determine if the combination of low dose total body irradiation, low dose cyclophosphamide and the addition of fludarabine, and a serum to suppress the immune system can allow selected stem cells to take and grow; (2) determine if selected stem cells from the blood or marrow can take and not cause graft-versus-host disease (GvHD), and; (3) evaluate the side effects of the combination of low dose radiation and chemotherapy drugs used for these transplants.
Cross-sectional cohort study of participants with HIV with or without protocol-defined Fanconi syndrome (confirmed creatinine clearance [CLcr] decline and evidence of proximal tubulopathy).
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. PURPOSE: This laboratory study is assessing immune function in young patients with cytopenia that did not respond to treatment.
The purpose of this research study is to determine whether an experimental drug called AMD3100 used in combination with another medication called G-CSF is safe and can help to increase the amount of blood stem cells (called CD34+ stem cells) found in the peripheral blood of patients with Fanconi anemia. While AMD3100 has been used successfully in adult volunteers and cancer patients, it has not been used in children or patients with Fanconi anemia and in only a few children with cancer. Fanconi anemia is a rare genetic disease. Most Fanconi anemia patients eventually develop bone marrow failure, a condition in which the bone marrow no longer produces red blood cells (to carry oxygen), white blood cells (to fight infection), and platelets (to help blood clot). The only successful treatment for patients with Fanconi anemia with bone marrow failure is bone marrow transplantation. However, this treatment has many risks and is not available to all patients with Fanconi anemia. CD34+ cells include stem cells found in the bone marrow or peripheral blood which are capable of making the red blood cells, white blood cells, and platelets. CD34+ stem cells can be collected from bone marrow or peripheral blood and purified using an experimental device called the CliniMACS. However, most Fanconi anemia patients do not have enough CD34+ stem cells in their bone marrow or peripheral blood to be collected using standard methods that work well in children and adults who don't have Fanconi anemia.