Stem Cell Transplantation (SCT) for Genetic Diseases

This study has been completed.
University of California, Los Angeles
Information provided by:
National Center for Research Resources (NCRR) Identifier:
First received: October 18, 1999
Last updated: June 23, 2005
Last verified: April 2002

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 Intervention
Metachromatic Leukodystrophy
Fanconi's Anemia
Thalassemia Major
Pure Red-Cell Aplasia
Inborn Errors of Metabolism
Procedure: Stem Cell Transplantation

Study Type: Interventional
Study Design: Endpoint Classification: Efficacy Study
Primary Purpose: Treatment

Resource links provided by NLM:

Further study details as provided by National Center for Research Resources (NCRR):

Study Start Date: January 1995
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.


Ages Eligible for Study:   up to 17 Years
Genders Eligible for Study:   Both
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
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Please refer to this study by its identifier: NCT00004378

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
Study Chair: Stephen A. Feig University of California, Los Angeles
  More Information Identifier: NCT00004378     History of Changes
Other Study ID Numbers: 199/11981  UCLA-92010034 
Study First Received: October 18, 1999
Last Updated: June 23, 2005
Health Authority: United States: Federal Government

Keywords provided by National Center for Research Resources (NCRR):
metachromatic leukodystrophy
Fanconi's anemia
amegakaryocytic thrombocytopenia
aplastic anemia
congenital pure red cell aplasia
genetic diseases and dysmorphic syndromes
hematologic disorders
inborn errors of metabolism
pure red cell aplasia
rare disease
thalassemia major

Additional relevant MeSH terms:
Leukodystrophy, Metachromatic
Fanconi Anemia
Fanconi Syndrome
Metabolism, Inborn Errors
Red-Cell Aplasia, Pure
Anemia, Aplastic
Anemia, Hemolytic
Anemia, Hemolytic, Congenital
Anemia, Hypoplastic, Congenital
Blood Platelet Disorders
Bone Marrow Diseases
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Central Nervous System Diseases
DNA Repair-Deficiency Disorders
Demyelinating Diseases
Genetic Diseases, Inborn
Hematologic Diseases
Hereditary Central Nervous System Demyelinating Diseases
Kidney Diseases
Lipid Metabolism Disorders
Lipid Metabolism, Inborn Errors processed this record on May 22, 2016