Stem Cell Transplantation (SCT) for Genetic Diseases

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ClinicalTrials.gov Identifier: NCT00004378

Recruitment Status : Completed

First Posted : October 19, 1999

Last Update Posted : June 24, 2005

Sponsor:

Collaborator:

University of California, Los Angeles

Information provided by:

National Center for Research Resources (NCRR)

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.

II. Determine whether clinical manifestations of the specific disease may be arrested or reversed by this treatment.

Condition or disease	Intervention/treatment	Phase
Thrombocytopenia Metachromatic Leukodystrophy Fanconi's Anemia Thalassemia Major Pure Red-Cell Aplasia Inborn Errors of Metabolism	Procedure: Stem Cell Transplantation	Not Applicable

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

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Study Type :	Interventional (Clinical Trial)
Primary Purpose:	Treatment
Study Start Date :	January 1995

Resource links provided by the National Library of Medicine

MedlinePlus Genetics related topics: Leukoencephalopathy with vanishing white matter Beta thalassemia RNAse T2-deficient leukoencephalopathy Fanconi anemia Metachromatic leukodystrophy Megalencephalic leukoencephalopathy with subcortical cysts Multiple sulfatase deficiency

Genetic and Rare Diseases Information Center resources: Aplastic Anemia Fanconi Anemia Congenital Aplastic Anemia Fanconi Syndrome Leukodystrophy Thalassemia Beta-thalassemia Metachromatic Leukodystrophy Pure Red Cell Aplasia Diamond-Blackfan Anemia Sphingolipidosis

U.S. FDA Resources

Arms and Interventions

Outcome Measures

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:	up to 17 Years (Child)
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	No

Criteria

PROTOCOL ENTRY CRITERIA:

--Disease Characteristics--

Hereditary enzymopathies, such as: Metachromatic leukodystrophy
Congenital Immunodeficiencies
Heritable hematologic disorders, such as: Thalassemia major Refractory Diamond-Blackfan anemia Fanconi anemia Amegakaryocytic thrombocytopenia

--Patient Characteristics--

Age: Under 18
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00004378

Locations

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United States, California
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

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Study Chair:	Stephen A. Feig	University of California, Los Angeles

More Information

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ClinicalTrials.gov Identifier:	NCT00004378
Other Study ID Numbers:	199/11981 UCLA-92010034
First Posted:	October 19, 1999 Key Record Dates
Last Update Posted:	June 24, 2005
Last Verified:	April 2002

Keywords provided by National Center for Research Resources (NCRR):


Fanconi's anemia amegakaryocytic thrombocytopenia aplastic anemia congenital pure red cell aplasia genetic diseases and dysmorphic syndromes hematologic disorders	inborn errors of metabolism metachromatic leukodystrophy pure red cell aplasia rare disease sphingolipidoses thalassemia major

Additional relevant MeSH terms:

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Leukodystrophy, Metachromatic Fanconi Syndrome Anemia Thrombocytopenia Thalassemia beta-Thalassemia Fanconi Anemia Red-Cell Aplasia, Pure Metabolism, Inborn Errors Hematologic Diseases Blood Platelet Disorders Anemia, Hemolytic, Congenital Anemia, Hemolytic Hemoglobinopathies Genetic Diseases, Inborn	Anemia, Hypoplastic, Congenital Anemia, Aplastic Bone Marrow Diseases DNA Repair-Deficiency Disorders Metabolic Diseases Renal Tubular Transport, Inborn Errors Kidney Diseases Urologic Diseases Hereditary Central Nervous System Demyelinating Diseases Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Brain Diseases Central Nervous System Diseases Nervous System Diseases Sulfatidosis

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