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Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation

Phase 2/Phase 3
Not Enrolling
Adrenoleukodystrophy, Metachromatic Leukodystrophy, Globoid Cell Leukodystrophy, Gaucher's Disease, Fucosidosis, Wolman Disease, Niemann-Pick Disease, Batten Disease, GM1 Gangliosidosis, Tay Sachs Disease, Sandhoff Disease

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Trial Information

Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation

Prior to transplantation, subjects will receive Busulfan intravenously (IV) via the Hickman
line four times daily for 4 days, Cyclophosphamide intravenously via the Hickman line once a
day for 4 days, and Anti-Thymocyte Globulin (ATG) intravenously (IV) via the Hickman line
twice daily for three days before the transplant. These three drugs are being given to
subjects to help the new marrow "take" and grow.

On the day of transplantation, the donor's hematopoietic cells will be transfused via
central venous catheter.

After hematopoietic cell transplant, subjects will then receive two drugs, cyclosporin and
either methylprednisolone or Mycophenolate Mofetil (MMF). Cyclosporin and
methylprednisolone or MMF are given to help prevent the complication of graft-versus-host
disease and to decrease the chance that the new donor cells will be rejected.

Inclusion Criteria:

- Patients with adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell
leukodystrophy, Gaucher's disease, Fucosidosis, Wolman disease, Niemann-Pick disease
and Batten disease (CLN3) who have a human leukocyte antigen (HLA)-identical or
haplotype mismatched (at 1-3 antigens) related marrow, or umbilical cord blood donor.
One or two umbilical cord blood (UCB) units may be used.

- Patients with GM1 gangliosidosis, Tay Sachs disease or Sandhoff disease who have a
HLA-identical or 1 antigen mismatched related or unrelated donor, or suitably matched
umbilical cord blood unit(s). One or two UCB units may be used.

- Patients with adrenoleukodystrophy must have magnetic resonance imaging (MRI)
findings, neurological and neuropsychometric function consistent with the diagnosis,
and for boys with parietal-occipital dysmyelination a performance intelligence
quotient (IQ) ≥80. In cases, when the performance IQ is not ≥80, the protocol
committee may recommend transplant if the patient's clinical condition and
neuropsychometric status are deemed to be acceptable based upon consideration of such
factors as age at onset of cerebral disease, magnitude of change in performance IQ
and neurologic deficits.

- Patients with arylsulfatase A deficiency (Metachromatic Leukodystrophy) must have
either the presymptomatic late infantile, juvenile or adult form of the disease and
must have acceptable neurological and neuropsychometric function.

- Patients with galactocerebrosidase deficiency (Globoid Cell Leukodystrophy) must have
acceptable neurological and neuropsychometric function.

- Patients with acid lipase deficiency (Wolman disease) must have a liver biopsy that
documents no evidence of hepatic cirrhosis, and acceptable neurological and
neuropsychometric function.

- Patients with fucosidase deficiency (Fucosidosis) must have acceptable neurological
and neuropsychometric function.

- Patients with glucocerebrosidase deficiency (Gaucher's Disease) must have acceptable
neurologic and neuropsychometric function.

- Patients with Batten's disease (CLN3) must have acceptable Neurological and
neuropsychometric function.

- Absence of major organ dysfunction. Organ evaluation results as follows:

- Cardiac: ejection fraction >30%

- Renal: serum creatinine <2x normal or creatinine clearance 60 mL/min.

- Hepatic: total bilirubin <2x normal and Aspartate aminotransferase (AST) <2x normal

- Signed consent.

Exclusion Criteria:

- Patients with symptomatic late infantile form of metachromatic leukodystrophy.

- Patients with symptomatic infantile globoid leukodystrophy.

- Note: Patients with Hurler syndrome, mucopolysaccharidosis (MPS) VI, or Mannosidosis
disease are no longer eligible for this protocol, but can be transplanted under
protocol MT 9907 (NCT00176917 - Hematopoietic Cell Transplantation for Hurler
Syndrome, Maroteaux Lamy Syndrome (MPS VI), and Alpha Mannosidase Deficiency

- Pregnancy

- Evidence of human immunodeficiency virus (HIV) infection or known HIV positive

- Patients or parents are psychologically incapable of undergoing bone marrow
transplant (BMT) with associated strict isolation or documented history of medical

- Patients ≥ 50 kg may be at risk for having cell doses below the goal of ≥ 10 x 10^6
CD34 cells/kg and therefore will not be eligible to receive unrelated peripheral
blood stem cells (PBSCs)

Type of Study:


Study Design:

Allocation: Non-Randomized, Endpoint Classification: Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment

Outcome Measure:

Overall Survival

Outcome Description:

Number of patients alive at designated timepoints after transplant.

Outcome Time Frame:

100 Days, 1 Year and 3 Years

Safety Issue:


Principal Investigator

Paul Orchard, MD

Investigator Role:

Principal Investigator

Investigator Affiliation:

Masonic Cancer Center, University of Minnesota


United States: Institutional Review Board

Study ID:




Start Date:

January 1995

Completion Date:

June 2010

Related Keywords:

  • Adrenoleukodystrophy
  • Metachromatic Leukodystrophy
  • Globoid Cell Leukodystrophy
  • Gaucher's Disease
  • Fucosidosis
  • Wolman Disease
  • Niemann-Pick Disease
  • Batten Disease
  • GM1 Gangliosidosis
  • Tay Sachs Disease
  • Sandhoff Disease
  • Inborn errors
  • Storage disease
  • errors of metabolism
  • stem cell transplant
  • Fucosidosis
  • Gangliosidoses
  • Gaucher Disease
  • Leukodystrophy, Globoid Cell
  • Leukodystrophy, Metachromatic
  • Metabolism, Inborn Errors
  • Niemann-Pick Diseases
  • Niemann-Pick Disease, Type A
  • Niemann-Pick Disease, Type C
  • Sandhoff Disease
  • Tay-Sachs Disease
  • Wolman Disease
  • Cholesterol Ester Storage Disease
  • Gangliosidosis, GM1
  • Adrenoleukodystrophy
  • Aphasia, Primary Progressive
  • Pick Disease of the Brain
  • Frontotemporal Dementia
  • Neuronal Ceroid-Lipofuscinoses



Masonic Cancer Center, University of Minnesota Minneapolis, Minnesota  55455