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

Brief Title

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

Official Title

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

Brief Summary

      This single-institution, phase II study is designed to test the ability to achieve donor
      hematopoietic engraftment while maintaining low rates of transplant-related mortality (TRM)
      using busulfan- and fludarabine-based conditioning regimens with busulfan therapeutic drug
      monitoring (TDM) for patients with various inherited metabolic disorders (IMD) and severe
      osteopetrosis (OP).

Study Phase

Phase 2

Study Type


Primary Outcome

Percent of subjects who achieve high-level donor hematopoietic engraftment

Secondary Outcome

 Graft-versus-host disease


Mucopolysaccharidosis Disorders


Stem Cell Transplantation

Study Arms / Comparison Groups

 IMD - Except Haplo-identical
Description:  Inherited Metabolic Disease (IMD) - Except Haplo-Identical
See intervention descriptions.


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status


Estimated Enrollment


Start Date

July 10, 2014

Completion Date

December 2022

Primary Completion Date

September 2022

Eligibility Criteria

        Inclusion Criteria:

          -  0 through 55 years of age

          -  Adequate graft available

          -  Adequate organ function

          -  Eligible Diseases:

               -  Mucopolysaccharidosis Disorders:

                    -  MPS IH (Hurler syndrome)

                    -  MPS II (Hunter syndrome) if the patient has no or minimal evidence of
                       symptomatic neurologic disease but is expected to have a neurologic

                    -  MPS VI (Maroteaux-Lamy syndrome)

                    -  MPS VII (Sly syndrome)

               -  Glycoprotein Metabolic Disorders:

                    -  Alpha mannosidosis

                    -  Fucosidosis

                    -  Aspartylglucosaminuria

               -  Sphingolipidoses and Recessive Leukodystrophies:

                    -  Globoid cell leukodystrophy

                    -  Metachromatic leukodystrophy

                    -  Niemann-Pick B patients (sphingomyelin deficiency)

                    -  Niemann-Pick C subtype 2

               -  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 (AMACRD)

                    -  Mitochondrial Neurogastrointestingal Encephalopathy (MNGIE)

               -  Severe Osteopetrosis (OP)

               -  Hereditary Leukoencephalopathy with axonal spheroids (HDLS; CSF1R mutation)

               -  Other Inherited Metabolic Disorders (IMD): Patients will also be considered who
                  have other life-threatening, rare lysosomal, peroxisomal or other similar
                  inherited disorders characterized by white matter disease or other neurologic
                  manifestations for which there is rationale that transplantation would be of
                  benefit, such as certain patients with Wolman's disease, GM1 gangliosidosis,
                  I-cell disease, Tay-Sachs disease, Sandhoff disease or others.

               -  Voluntary written consent

        Exclusion Criteria:

          -  Pregnancy - menstruating females must have a negative serum or urine pregnancy test
             within 14 days of study treatment start

          -  Prior myeloablative chemotherapy exposure within 4 months of the start of conditioning
             on this protocol (patients excluded for this reason may be eligible for other
             institutional protocols)

          -  Uncontrolled bacterial, fungal or viral infections including HIV (including active
             infection with Aspergillus or other mold within 30 days)




N/A - 55 Years

Accepts Healthy Volunteers



Paul Orchard, M.D., 612-273-8482, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID


Responsible Party


Study Sponsor

Masonic Cancer Center, University of Minnesota

Study Sponsor

Paul Orchard, M.D., Principal Investigator, Masonic Cancer Center, University of Minnesota

Verification Date

May 2021