New stem cell approach aims to tame rare genetic diseases

NCT ID NCT02171104

Ongoing Disease control Sponsor: Masonic Cancer Center, University of Minnesota Source: ClinicalTrials.gov ↗

First seen Jun 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study tests a stem cell transplant method for people with inherited metabolic disorders and severe osteopetrosis. The goal is to get the donor cells to take hold while keeping side effects low. Participants receive chemotherapy drugs before the transplant to prepare their bodies. The trial includes 149 people aged 0 to 55.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

Active substance: stem cell transplant with chemotherapy drugs (busulfan, fludarabine, and sometimes ATG or other agents)
What this could lead to: If successful, this could offer a way to slow or stop the progression of severe inherited metabolic disorders and osteopetrosis, potentially improving quality of life and survival.
What could go wrong: This is a phase 2 trial with 149 participants, so results are still early. The transplant procedure carries serious risks, including graft failure, severe infections, and organ damage.

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Conditions

The condition(s) this trial relates to.

alpha-mannosidosis alpha-methylacyl-CoA racemase deficiency aspartylglucosaminuria d-bifunctional protein deficiency fucosidosis glycoprotein metabolism disease Hurler syndrome inborn errors of metabolism Krabbe disease leukoencephalopathy, diffuse hereditary, with spheroids 1 leukoencephalopathy, hereditary diffuse, with spheroids metachromatic leukodystrophy mitochondrial neurogastrointestinal encephalomyopathy mucopolysaccharidosis Mucopolysaccharidosis I mucopolysaccharidosis type 2 mucopolysaccharidosis type 6 mucopolysaccharidosis type 7 osteopetrosis peroxisomal acyl-CoA oxidase deficiency peroxisomal disease Peroxisomal Disorders Pseudo-Zellweger syndrome Refsum Disease, Infantile sphingolipidosis Zellweger spectrum disorders

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

ACYL-COA OXIDASE DEFICIENCY ADRENOLEUKODYSTROPHY WITH CEREBRAL INVOLVEMENT ALPHA-MANNOSIDOSIS ALPHA-METHYLACYL-COA RACMASE DEFICIENCY ASPARTYLGLUCOSAMINURIA D-BIFUNCTIONAL ENZYME DEFICIENCY FUCOSIDOSIS GLOBOID CELL LEUKODYSTROPHY GLYCOPROTEIN METABOLIC DISORDERS HEREDITARY LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS (HDLS; CSF1R MUTATION) HUNTER SYNDROME HURLER SYNDROME INFANTILE REFSUM DISEASE INHERITED METABOLIC DISORDERS MAROTEAUX LAMY SYNDROME METACHROMATIC LEUKODYSTROPHY MITOCHONDRIAL NEUROGASTROINTESTINGAL ENCEPHALOPATHY MUCOPOLYSACCHARIDOSIS DISORDERS MULTIFUNCTIONAL ENZYME DEFICIENCY NEONATAL ADRENOLEUKODYSTROPHY NIEMANN-PICK B NIEMANN-PICK C SUBTYPE 2 PEROXISOMAL DISORDERS RECESSIVE LEUKODYSTROPHIES SEVERE OSTEOPETROSIS SLY SYNDROME SPHINGOLIPIDOSES SPHINGOMYELIN DEFICIENCY ZELLWEGER SYNDROME

Contacts and locations

Locations

Masonic Cancer Center, University of Minnesota

Minneapolis, Minnesota, 55455, United States

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