Adrenoleukodystrophy - Healing Genes


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MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis

MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG

Phase 2


Researchers at the Masonic Cancer Center of the University of Minnesota are recruiting patients with metabolic disorders or severe osteopetrosis for clinical trial of donor stem cell transplant, in combination with several other approved therapies, with the goal of achieving engraftment (acceptance) of the transplant and disease reduction.

Patients with the following diseases may be eligible:

  • Mucopolysaccharidosis Disorders
  • Hurler Syndrome
  • Hunter Syndrome
  • Maroteaux Lamy Syndrome
  • Sly Syndrome
  • Alpha-Mannosidosis
  • Fucosidosis
  • Aspartylglucosaminuria
  • Glycoprotein Metabolic Disorders
  • Sphingolipidoses
  • Recessive Leukodystrophies
  • Globoid Cell Leukodystrophy
  • Metachromatic Leukodystrophy
  • Niemann-Pick B
  • Niemann-Pick C Subtype 2
  • Sphingomyelin Deficiency
  • Peroxisomal Disorders
  • Adrenoleukodystrophy With Cerebral Involvement
  • Zellweger Syndrome
  • Neonatal Adrenoleukodystrophy
  • Infantile Refsum Disease
  • Acyl-CoA Oxidase Deficiency
  • D-Bifunctional Enzyme Deficiency
  • Multifunctional Enzyme Deficiency
  • Alpha-methylacyl-CoA Racmase Deficiency
  • Mitochondrial Neurogastrointestinal Encephalopathy
  • Severe Osteopetrosis
  • Hereditary Leukoencephalopathy With Axonal Spheroids (HDLS; CSF1R Mutation)
  • Inherited Metabolic Disorders

Depending on the patient’s disease and severity, this investigatory treatment will require a stem cell transplant in combination with 2 or more of the following: Chemotherapy (3 types), Immunosuppressive therapy, vitamins/supplements and anti-inflammatory medicines. All the treatments alone are FDA-approved for other diseases but are being tested in combination for these disorders.


  • Be up to 55 years of age
  • Have an available donor stem cell match
  • Meet criteria specific to their disease
  • Not be pregnant
  • Not have prior immune-reducing chemo within 4 months of the start of the study


  1. Prescreening at the study site to confirm eligibility of the patient to participate.
  2. Chemotherapy treatment will reduce the patient’s bone marrow. Some patients may also receive immunosuppressive drugs.
  3. Some patients will receive a combination vitamins, supplements, and/or anti-inflammatory medicines.
  4. Follow up at the study site location at a regular schedule to measure acceptance of survival, disease reduction, and the stem cell transplant’s engraftment.


The study will be conducted at the Masonic Cancer Center of the University of Minnesota. Map.


Kim Nelson  |  612-273-2925  |  [email protected]

Troy Lund, M.D.Ph.D.  |  612-625-4185  |  [email protected]



Masonic Cancer Center, University of Minnesota

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