Stem Cell Transplantation (SCT) for Genetic Diseases

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.

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Key information

Conditions

Thrombocytopenia Anemia Anemia, Aplastic Anemia, Diamond-Blackfan Anemia, Hemolytic Anemia, Hemolytic, Congenital Anemia, Hypoplastic, Congenital Blood Platelet Disorders Bone Marrow Diseases Bone Marrow Failure Disorders Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital Bone Marrow Failure Syndromes Congenital, Hereditary, and Neonatal Diseases and Abnormalities Cytopenia DNA Repair-Deficiency Disorders Demyelinating Diseases Disease Attributes Fanconi Anemia Fanconi's Anemia Genetic Diseases, Inborn Hematologic Diseases Hemic and Lymphatic Diseases Hemoglobinopathies Hereditary Central Nervous System Demyelinating Diseases Inborn Errors of Metabolism Leukodystrophy, Metachromatic Leukoencephalopathies Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Metachromatic Leukodystrophy Nervous System Diseases Nutritional and Metabolic Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Pure Red-Cell Aplasia Rare Diseases Red-Cell Aplasia, Pure Sphingolipidoses Sulfatidosis Thalassemia Thalassemia Major beta-Thalassemia

Age range

0 year–17 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

University of California Los Angeles Medical Center

Los Angeles, California, 90024, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

stem cell transplantation

Procedure

Sponsors and collaborators

Lead sponsor

National Center for Research Resources (NCRR)

Nih

Collaborators

University of California, Los Angeles

Registry information

Important dates

Study start: 1995
First posted: Oct 19, 1999
Registry last updated: Jun 24, 2005

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed