Active, not recruitingNCT02171104Updated Nov 3, 2026

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

A Phase 2 interventional study of Stem Cell Transplantation and IMD Preparative Regimen in Mucopolysaccharidosis Disorders, Hurler Syndrome and Hunter Syndrome, sponsored by Masonic Cancer Center, University of Minnesota. Active, not recruiting at 1 site in United States. Open to participants aged Up to 55 Years. Per ClinicalTrials.gov, last updated 2026-11-03.

Sponsored by Masonic Cancer Center, University of Minnesota · Phase 2, Interventional, and Treatment

Updated Nov 3, 2026Primary completion movedStudy completion movedGo to Updates ↓

Phase: Phase 2
Study type: Interventional
Enrollment: 149
Allocation: Randomized
Ages: Up to 55 Years
Sex: All

Study 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).

Conditions studied

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 Neurogastrointestingal Encephalopathy
Severe Osteopetrosis
Hereditary Leukoencephalopathy With Axonal Spheroids (HDLS; CSF1R Mutation)
Inherited Metabolic Disorders

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Keywords

allogeneic hematopoietic cell transplantation
bone marrow transplantation
IMD
AMACRD
MNGIE
HDLS
OP
ALD

In context

Mucopolysaccharidosis I

74 studies on the registry are indexed under Mucopolysaccharidosis I; 7 are open to participants now.

This study's enrollment of 149 is above the median of 14 across 47 interventional studies indexed under Mucopolysaccharidosis I.

Browse Mucopolysaccharidosis I studies →

Lead sponsor

Masonic Cancer Center, University of Minnesota is the lead sponsor of 286 studies on the registry; 35 are open to participants now.

Of its 39 completed or terminated interventional studies of FDA-regulated products, 28 (72%) have results posted.

Browse Masonic Cancer Center, University of Minnesota studies →

Counted across the registry records on this site, refreshed daily.

Who can participate

Ages eligible: Up to 55 Years
Sexes eligible: All
Accepts healthy volunteers: No

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

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

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 (including active infection with Aspergillus or other mold within 30 days)

Terms in these criteria, in plain language(1)

Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.

HIV

The human immunodeficiency virus, which weakens the immune system.

Many studies now accept people whose HIV is controlled on treatment, judged by the viral load and the CD4 count. Check the limits this study sets.

Study design

Phase: Phase 2
Primary purpose: Treatment
Allocation: Randomized
Intervention model: Single group
Masking: None (open label)
Enrollment: 149 participants (actual)

Study arms

Experimental
IMD - Except Haplo-identical
Inherited Metabolic Disease (IMD) - Except Haplo-Identical See intervention descriptions.
Biological: Stem Cell Transplantation · Drug: IMD Preparative Regimen
Experimental
OP - Except Haplo-Identical
Severe Osteoperosis (OP) - Except Haplo-Identical See intervention descriptions.
Biological: Stem Cell Transplantation · Drug: Osteopetrosis Only Preparative Regimen
Experimental
OP and IMD -Haplo-Identical Only
Severe Osteopetrosis (OP) and Inhterited Metabolic Disorders (IMD) -Haplo-Identical Only See intervention descriptions.
Biological: Stem Cell Transplantation · Drug: Osteopetrosis Haploidentical Only Preparative Regimen
Experimental
cALD SR-A (Standard-Risk, Regimen A)
See intervention descriptions.
Biological: Stem Cell Transplantation · Drug: IMD Preparative Regimen · Drug: cALD SR-A (Standard-Risk, Regimen A)
Experimental
cALD SR-B (Standard-Risk, Regimen B)
See intervention descriptions.
Biological: Stem Cell Transplantation · Drug: IMD Preparative Regimen · Drug: cALD SR-B (Standard-Risk, Regimen B)
Experimental
cALD HR-C (High-Risk, Regimen C)
See intervention descriptions.
Biological: Stem Cell Transplantation · Drug: IMD Preparative Regimen · Drug: cALD HR-D (High-Risk, Regimen C)
Experimental
cALD HR-D (High-Risk, Regimen D)
See intervention descriptions.
Biological: Stem Cell Transplantation · Drug: IMD Preparative Regimen · Drug: cALD HR-D (High-Risk, Regimen D)

Interventions

BiologicalStem Cell Transplantation
Infusion given on Day 0
DrugIMD Preparative Regimen
* Anti-thymocyte Globulin (ATG) * Fludarabine * Busulfan
DrugOsteopetrosis Only Preparative Regimen
* Anti-thymocyte Globulin (ATG) * Fludarabine * Busulfan * Thiotepa
DrugOsteopetrosis Haploidentical Only Preparative Regimen
* Rituximab * Alemtuzumab * Busulfan * Fludarabine
DrugcALD SR-A (Standard-Risk, Regimen A)
N-acetylcysteine start day +1 through day +28
DrugcALD SR-B (Standard-Risk, Regimen B)
N-acetylcysteine start day +1through day +56
DrugcALD HR-D (High-Risk, Regimen C)
N-acetylcysteine and celecoxib start day of admission (prior to conditioning regimen) and continue through day +100
DrugcALD HR-D (High-Risk, Regimen D)
N-acetylcysteine, celecoxib, vitamin E and alpha lipoic acid start day of admission (prior to conditioning regimen) and continue through day +100

What researchers measure

Primary outcomes

Percent of subjects who achieve high-level donor hematopoietic engraftment
Defined as neutrophil recovery by Day +42 post-transplant and ≥ 80% donor cells on the myeloid fraction of peripheral blood at Day +100 post-transplant
Time frame: Day +42 post-transplant
Percent of subjects who achieve high-level donor hematopoietic engraftment
Defined as ≥ 80% donor cells on the myeloid fraction of peripheral blood at Day +100 post-transplant
Time frame: Day +100 post-transplant

Secondary outcomes

Graft-versus-host disease
Incidence and severity of GvHD
Time frame: Day +100 post-transplant
Transplant-related mortality
Incidence of TRM
Time frame: Day +100 post-transplant
Regimen-related toxicity
Defined as infection, acute renal failure, respiratory failure, cardiac failure, and veno-occlusive disease
Time frame: Day +100 post-transplant
Post-HSCT changes in disease
Incidence of radiographic, physiologic, neuro-psychologic, and/or biochemical aspects of the disease as assessed on a disease-specific basis
Time frame: 1 year
Post-HSCT changes in disease
Incidence of radiographic, physiologic, neuro-psychologic, and/or biochemical aspects of the disease as assessed on a disease-specific basis
Time frame: 2 years

Study locations

1 site

Masonic Cancer Center, University of Minnesota
Minneapolis, Minnesota 55455, United States
9 other open studies at this site →

Timeline

1 registry update since Sep 25, 2026

ElapsedEstimatedEstimated, not yet reachedDate before it movedWhere the date was before it moved

Started Jul 2014 (actual). Primary completion is estimated for Jan 2030, 185 months after the start.

Since we started tracking on Sep 25, 2026, the dates moved once, on Nov 3, 2026: primary completion Jan 2026 → Jan 2030 and completion Jul 2029 → Jul 2031.

Earlier changes are on the record history on ClinicalTrials.gov ↗

How these figures are worked out, and which studies are left out of them.

Registered: Jun 20, 2014
First posted: Jun 23, 2014
StartActual: Jul 10, 2014
Primary completionEst.: Jan 5, 2030was Jan 2026
CompletionEst.: Jul 14, 2031was Jul 2029
Last update: Nov 3, 2026

What these dates mean

Start.: When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.: When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.: When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.: Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.

Primary completion

Jan 5, 2026→Jan 5, 2030

Nov 3, 2026

Study completion

Jul 14, 2029→Jul 14, 2031

Nov 3, 2026

Show all 1 update

Nov 3, 2026
Primary completion Jan 5, 2026→Jan 5, 2030
Study completion Jul 14, 2029→Jul 14, 2031
+ 1 other change: verification date

From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗

Registry details

Key details

Study ID: NCT02171104
Lead sponsor: Masonic Cancer Center, University of Minnesota
Responsible party: Sponsor
First posted: Jun 23, 2014
Start date: Jul 10, 2014
Primary completion: Jan 5, 2030 (estimated)
Completion: Jul 14, 2031 (estimated)
Last update: Nov 3, 2026

Study contacts

Paul Orchard, M.D.

principal investigator · Masonic Cancer Center, University of Minnesota

Oversight

Data monitoring committee: Yes
FDA-regulated drug: Yes
FDA-regulated device: No

View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is active, not recruiting, as verified in Nov 2026. You cannot join it, but the record below documents what was studied.

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Discussion

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