Stem Cell Transplantation (SCT) for Genetic Diseases
Study Details
Study Description
Brief Summary
OBJECTIVES: I. Ascertain whether stem cell transplantation (SCT) is an effective method by which missing or dysfunctional enzymes can be replaced in patients with various inborn errors of metabolism.
- Determine whether clinical manifestations of the specific disease may be arrested or reversed by this treatment.
Condition or Disease | Intervention/Treatment | Phase |
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N/A |
Detailed Description
PROTOCOL OUTLINE: Patients receive either cyclophosphamide and high dose total body irradiation (TBI) or busulfan and cyclophosphamide.
Cyclophosphamide IV is given on days -5 and -4 and TBI on days -2, -1, and 0. Busulfan is given orally every 6 hours on days -9 through -6 and cyclophosphamide IV on days -5 through -2. Patients rest on day -1.
Patients receive bone marrow infusion on day 0. For GVHD prophylaxis, patients receive methotrexate on day 1, then on days 3, 6, and 11. Cyclosporine IV begins on day -2 over 12 hours, followed by continuous infusion for 21 days. Then, oral doses of cyclosporine are given every 12 hours to patients who tolerate oral feeding. Cyclosporine is continued 6 months posttransplant, then tapered 10% per week and stopped.
Patients who receive genotypically HLA nonidentical stem cells undergo additional GVHD prophylaxis with methylprednisolone (IV or PO) or its equivalent every 12 hours on days 3 to day 100. Dose is then tapered as tolerated over 1 month.
Patients who receive cord blood stem cells receive methylprednisolone instead of methotrexate for GHVD prophylaxis. Methylprednisolone is given 3 times daily beginning on day 5 and continuing until day 17. Then, methylprednisolone is tapered 10% per week as clinically tolerated.
To accelerate engraftment, patients receive filgrastim IM daily beginning on day +1 and continuing until ANC equals 5000.
Study Design
Outcome Measures
Primary Outcome Measures
Eligibility Criteria
Criteria
PROTOCOL ENTRY CRITERIA:
--Disease Characteristics--
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Hereditary enzymopathies, such as: Metachromatic leukodystrophy
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Congenital Immunodeficiencies
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Heritable hematologic disorders, such as: Thalassemia major Refractory Diamond-Blackfan anemia Fanconi anemia Amegakaryocytic thrombocytopenia
--Patient Characteristics--
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Age: Under 18
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Other: SCT is performed using a histocompatible related donor, an unrelated donor, or an unrelated cord blood donor Haploidentical donors are accepted for patients with severe congenital immunodeficiency
Contacts and Locations
Locations
Site | City | State | Country | Postal Code | |
---|---|---|---|---|---|
1 | University of California Los Angeles Medical Center | Los Angeles | California | United States | 90024 |
Sponsors and Collaborators
- National Center for Research Resources (NCRR)
- University of California, Los Angeles
Investigators
- Study Chair: Stephen A. Feig, University of California, Los Angeles
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- 199/11981
- UCLA-92010034