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
This study is testing if a new type of stem cell transplant can help people with inherited metabolic disorders and severe osteopetrosis feel better and improve their health.
Quick facts
| Phase | Phase 2 |
|---|---|
| Study type | Interventional |
| Enrollment | 100 (estimated) |
| Ages | N/A to 55 Years |
| Sex | All |
| Sponsor | Masonic Cancer Center, University of Minnesota Academic / other |
| Drugs / interventions | chemotherapy, fludarabine |
| Locations | 1 site (Minneapolis, Minnesota) |
| Trial ID | NCT02171104 on ClinicalTrials.gov |
What this trial studies
This phase II clinical trial aims to evaluate the effectiveness of allogeneic hematopoietic cell transplantation (HCT) in patients with inherited metabolic disorders and severe osteopetrosis. The study focuses on achieving successful donor hematopoietic engraftment while minimizing transplant-related mortality through a conditioning regimen that includes busulfan and fludarabine, with therapeutic drug monitoring for busulfan. Participants will be monitored for their response to the treatment and overall health outcomes.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals aged 0 to 55 years with specific inherited metabolic disorders or severe osteopetrosis who have adequate organ function and available grafts.
Not a fit: Patients with advanced symptomatic neurologic disease related to their metabolic disorder may not benefit from this study.
Why it matters
Potential benefit: If successful, this treatment could significantly improve survival and quality of life for patients with severe metabolic disorders and osteopetrosis.
How similar studies have performed: Other studies have shown promise with similar approaches in treating metabolic disorders through stem cell transplantation, indicating potential for success in this trial.
Eligibility criteria
Show full inclusion / exclusion 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 phenotype
* 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)
Where this trial is running
Minneapolis, Minnesota
- Masonic Cancer Center, University of Minnesota — Minneapolis, Minnesota, United States (Recruiting)
Study contacts
- Principal investigator: Paul Orchard, M.D. — Masonic Cancer Center, University of Minnesota
- Study coordinator: Lisa Burke
- Email: lburke3@Fairview.org
- Phone: 612-273-8482
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.