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Stem Cell Transplantation (SCT) for Genetic Diseases

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT00004378
Recruitment Status : Completed
First Posted : October 19, 1999
Last Update Posted : June 24, 2005
University of California, Los Angeles
Information provided by:
National Center for Research Resources (NCRR)

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.

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

Information from the National Library of Medicine

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Ages Eligible for Study:   0 Years to 17 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No


--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

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

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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
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Study Chair: Stephen A. Feig University of California, Los Angeles
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ClinicalTrials.gov Identifier: NCT00004378    
Other Study ID Numbers: 199/11981
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
thalassemia major
Additional relevant MeSH terms:
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Leukodystrophy, Metachromatic
Fanconi Syndrome
Fanconi Anemia
Red-Cell Aplasia, Pure
Metabolism, Inborn Errors
Hematologic Diseases
Blood Platelet Disorders
Anemia, Hemolytic, Congenital
Anemia, Hemolytic
Genetic Diseases, Inborn
Anemia, Hypoplastic, Congenital
Anemia, Aplastic
Congenital Bone Marrow Failure Syndromes
Bone Marrow Failure Disorders
Bone Marrow Diseases
DNA Repair-Deficiency Disorders
Metabolic Diseases
Renal Tubular Transport, Inborn Errors
Kidney Diseases
Urologic Diseases
Female Urogenital Diseases
Female Urogenital Diseases and Pregnancy Complications
Urogenital Diseases
Male Urogenital Diseases
Hereditary Central Nervous System Demyelinating Diseases