Stem Cell Transplantation (SCT) for Genetic Diseases

NCT00004378 | Completed

• 2 other identifiers: 199/11981UCLA-92010034
• Study Type: interventional
• Target: N/A
• Locations: 1 country
• Sites: 1

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.

Conditions

Thrombocytopenia; Metachromatic Leukodystrophy; Fanconi's Anemia; Thalassemia Major; Pure Red-Cell Aplasia; Inborn Errors of Metabolism

Keywords

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

Interventions

Stem Cell Transplantation PROCEDURE

Eligibility Criteria

• Age: 0 Years - 17 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

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

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

• National Center for Research Resources (NCRR): lead
• University of California, Los Angeles: collaborator

Study Sites (1)

University of California Los Angeles Medical Center

Los Angeles, California, 90024, United States

Location

MeSH Terms

Conditions

Thrombocytopenia; Leukodystrophy, Metachromatic; Fanconi Anemia; beta-Thalassemia; Red-Cell Aplasia, Pure; Metabolism, Inborn Errors; Anemia, Aplastic; Anemia, Diamond-Blackfan; Genetic Diseases, Inborn; Hematologic Diseases; Rare Diseases; Sphingolipidoses

Interventions

Stem Cell Transplantation

Condition Hierarchy (Ancestors)

Blood Platelet Disorders; Hemic and Lymphatic Diseases; Cytopenia; Hereditary Central Nervous System Demyelinating Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Sulfatidosis; Lysosomal Storage Diseases, Nervous System; Leukoencephalopathies; Demyelinating Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders; Anemia, Hypoplastic, Congenital; Anemia; Congenital Bone Marrow Failure Syndromes; Bone Marrow Failure Disorders; Bone Marrow Diseases; DNA Repair-Deficiency Disorders; Thalassemia; Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Hemoglobinopathies; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Cell Transplantation; Cell- and Tissue-Based Therapy; Biological Therapy; Therapeutics; Transplantation; Surgical Procedures, Operative

Study Officials

• Stephen A. Feig

  University of California, Los Angeles

  STUDY CHAIR

Study Design

• Study Type: interventional
• Phase: not applicable
• Purpose: TREATMENT
• Sponsor Type: NIH

Study Record Dates

• First Submitted: October 18, 1999
• First Posted: October 19, 1999
• Study Start: January 1, 1995
• Last Updated: June 24, 2005

Record last verified: 2002-04

Locations

US (1)