Mucopolysaccharidosis DisordersPhase 2NCT02171104
MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
A Phase 2 study testing Stem Cell Transplantation, IMD Preparative Regimen and Osteopetrosis Only Preparative Regimen in people with Mucopolysaccharidosis Disorders and Hurler Syndrome, run by Masonic Cancer Center, University of Minnesota at 1 site in United States.
Trial 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… Read more about this study
- Who is it for?
- Ages Up to 55 years
- Conditions the study is for
- Mucopolysaccharidosis Disorders, Hurler Syndrome, Hunter Syndrome
- What is being tested?
- Stem Cell Transplantation, IMD Preparative Regimen and Osteopetrosis Only Preparative Regimen
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 149 participants
- Where
- 1 siteUnited States
- Study dates
- 10 Jul 2014to 14 Jul 2031
- Phase
- Phase 2
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 55 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- 0 through 55 years of age
- Adequate graft available
- Adequate organ function
- Eligible Diseases:
- Mucopolysaccharidosis Disorders:
- MPS IH (Hurler syndrome)
Show all 32Show fewer
- 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
Who cannot join
- 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)
Trial locations and contacts
1 site in 1 country.
United States1 site
Masonic Cancer Center, University of Minnesota
Minneapolis, Minnesota, 55455
About this study
Official title: MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG
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
- Mucopolysaccharidosis Disorders, Hurler Syndrome, Hunter Syndrome, Maroteaux Lamy Syndrome, Sly Syndrome, Alpha-Mannosidosis
- Being tested
- Stem Cell Transplantation, IMD Preparative Regimen, Osteopetrosis Only Preparative Regimen, Osteopetrosis Haploidentical Only Preparative Regimen, cALD SR-A (Standard-Risk, Regimen A)
- Keywords
- allogeneic hematopoietic cell transplantation, bone marrow transplantation, IMD, AMACRD, MNGIE, HDLS, OP, ALD
- Medical subject headings
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, alpha-Mannosidosis, Fucosidosis, Aspartylglucosaminuria, Sphingolipidoses
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Stem Cell TransplantationBiological
Infusion given on Day 0
IMD Preparative RegimenDrug
- Anti-thymocyte Globulin (ATG)
- Fludarabine
- Busulfan
Osteopetrosis Only Preparative RegimenDrug
- Anti-thymocyte Globulin (ATG)
- Fludarabine
- Busulfan
- Thiotepa
Osteopetrosis Haploidentical Only Preparative RegimenDrug
- Rituximab
- Alemtuzumab
- Busulfan
- Fludarabine
cALD SR-A (Standard-Risk, Regimen A)Drug
N-acetylcysteine start day +1 through day +28
cALD SR-B (Standard-Risk, Regimen B)Drug
N-acetylcysteine start day +1through day +56
cALD HR-D (High-Risk, Regimen C)Drug
N-acetylcysteine and celecoxib start day of admission (prior to conditioning regimen) and continue through day +100
cALD HR-D (High-Risk, Regimen D)Drug
N-acetylcysteine, celecoxib, vitamin E and alpha lipoic acid start day of admission (prior to conditioning regimen) and continue through day +100
| Study group | Role | What they receive |
|---|---|---|
| IMD - Except Haplo-identical | Experimental | Inherited Metabolic Disease (IMD) - Except Haplo-Identical
See intervention descriptions. Receives: Biological: Stem Cell Transplantation; Drug: IMD Preparative Regimen |
| OP - Except Haplo-Identical | Experimental | Severe Osteoperosis (OP) - Except Haplo-Identical
See intervention descriptions. Receives: Biological: Stem Cell Transplantation; Drug: Osteopetrosis Only Preparative Regimen |
| OP and IMD -Haplo-Identical Only | Experimental | Severe Osteopetrosis (OP) and Inhterited Metabolic Disorders (IMD)
-Haplo-Identical Only
See intervention descriptions. Receives: Biological: Stem Cell Transplantation; Drug: Osteopetrosis Haploidentical Only Preparative Regimen |
| cALD SR-A (Standard-Risk, Regimen A) | Experimental | See intervention descriptions. Receives: Biological: Stem Cell Transplantation; Drug: IMD Preparative Regimen; Drug: cALD SR-A (Standard-Risk, Regimen A) |
| cALD SR-B (Standard-Risk, Regimen B) | Experimental | See intervention descriptions. Receives: Biological: Stem Cell Transplantation; Drug: IMD Preparative Regimen; Drug: cALD SR-B (Standard-Risk, Regimen B) |
| cALD HR-C (High-Risk, Regimen C) | Experimental | See intervention descriptions. Receives: Biological: Stem Cell Transplantation; Drug: IMD Preparative Regimen; Drug: cALD HR-D (High-Risk, Regimen C) |
| cALD HR-D (High-Risk, Regimen D) | Experimental | See intervention descriptions. Receives: Biological: Stem Cell Transplantation; Drug: IMD Preparative Regimen; Drug: cALD HR-D (High-Risk, Regimen D) |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 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
Measured: Day +100 post-transplant
Secondary outcomes (5)
Graft-versus-host disease
Incidence and severity of GvHD
Measured: Day +100 post-transplant
Transplant-related mortality
Incidence of TRM
Measured: Day +100 post-transplant
Regimen-related toxicity
Defined as infection, acute renal failure, respiratory failure, cardiac failure, and veno-occlusive disease
Measured: 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
Measured: 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
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Jun 2014 (estimated)
- Study start10 Jul 2014
- Primary completion5 Jan 2030 (estimated)
- Study completion14 Jul 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mucopolysaccharidosis DisordersStudies of the same condition, open and under way.
- More trials run by Masonic Cancer Center, University of MinnesotaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 149 participants (actual)
Sponsor and investigators
- Lead sponsor
- Masonic Cancer Center, University of Minnesota
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Paul Orchard, M.D., Principal investigator, Masonic Cancer Center, University of Minnesota
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02171104
- Sponsor's protocol ID
- 2013LS104
- Status last verified
- Nov 2026
- First submitted
- 20 Jun 2014
- Last updated
- 3 Nov 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG
- ClinicalTrials.gov ID
- NCT02171104
- Acronym / sponsor ID
- 2013LS104
- Conditions
- Mucopolysaccharidosis Disorders, Hurler Syndrome, Hunter Syndrome, Maroteaux Lamy Syndrome, Sly Syndrome, Alpha-Mannosidosis
- Keywords
- allogeneic hematopoietic cell transplantation, bone marrow transplantation, IMD, AMACRD, MNGIE, HDLS, OP, ALD
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 149 participants (actual)
- Lead sponsor
- Masonic Cancer Center, University of MinnesotaUniversity, hospital or other
- Study start
- 10 Jul 2014 (actual)
- Primary completion
- 5 Jan 2030 (estimated)
- Study completion
- 14 Jul 2031 (estimated)
- First posted
- 23 Jun 2014 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 7
| Arm | Type | Receives |
|---|---|---|
| IMD - Except Haplo-identical | Experimental | Biological: Stem Cell Transplantation, Drug: IMD Preparative RegimenInherited Metabolic Disease (IMD) - Except Haplo-Identical See intervention descriptions. |
| OP - Except Haplo-Identical | Experimental | Biological: Stem Cell Transplantation, Drug: Osteopetrosis Only Preparative RegimenSevere Osteoperosis (OP) - Except Haplo-Identical See intervention descriptions. |
| OP and IMD -Haplo-Identical Only | Experimental | Biological: Stem Cell Transplantation, Drug: Osteopetrosis Haploidentical Only Preparative RegimenSevere Osteopetrosis (OP) and Inhterited Metabolic Disorders (IMD) -Haplo-Identical Only See intervention descriptions. |
| cALD SR-A (Standard-Risk, Regimen A) | Experimental | Biological: Stem Cell Transplantation, Drug: IMD Preparative Regimen, Drug: cALD SR-A (Standard-Risk, Regimen A)See intervention descriptions. |
| cALD SR-B (Standard-Risk, Regimen B) | Experimental | Biological: Stem Cell Transplantation, Drug: IMD Preparative Regimen, Drug: cALD SR-B (Standard-Risk, Regimen B)See intervention descriptions. |
| cALD HR-C (High-Risk, Regimen C) | Experimental | Biological: Stem Cell Transplantation, Drug: IMD Preparative Regimen, Drug: cALD HR-D (High-Risk, Regimen C)See intervention descriptions. |
| cALD HR-D (High-Risk, Regimen D) | Experimental | Biological: Stem Cell Transplantation, Drug: IMD Preparative Regimen, Drug: cALD HR-D (High-Risk, Regimen D)See intervention descriptions. |
Who may qualify
- Ages
- Up to 55 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (32 listed)
- 0 through 55 years of age
- Adequate graft available
- Adequate organ function
- Eligible Diseases:
Key exclusion criteria (3 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Stem Cell TransplantationInfusion given on Day 0 | Biological | IMD - Except Haplo-identical, OP - Except Haplo-Identical, OP and IMD -Haplo-Identical Only, cALD HR-C (High-Risk, Regimen C), cALD HR-D (High-Risk, Regimen D), cALD SR-A (Standard-Risk, Regimen A), cALD SR-B (Standard-Risk, Regimen B) |
| IMD Preparative Regimen* Anti-thymocyte Globulin (ATG) * Fludarabine * Busulfan | Drug | IMD - Except Haplo-identical, cALD HR-C (High-Risk, Regimen C), cALD HR-D (High-Risk, Regimen D), cALD SR-A (Standard-Risk, Regimen A), cALD SR-B (Standard-Risk, Regimen B) |
| Osteopetrosis Only Preparative Regimen* Anti-thymocyte Globulin (ATG) * Fludarabine * Busulfan * Thiotepa | Drug | OP - Except Haplo-Identical |
| Osteopetrosis Haploidentical Only Preparative Regimen* Rituximab * Alemtuzumab * Busulfan * Fludarabine | Drug | OP and IMD -Haplo-Identical Only |
| cALD SR-A (Standard-Risk, Regimen A)N-acetylcysteine start day +1 through day +28 | Drug | cALD SR-A (Standard-Risk, Regimen A) |
| cALD SR-B (Standard-Risk, Regimen B)N-acetylcysteine start day +1through day +56 | Drug | cALD SR-B (Standard-Risk, Regimen B) |
| cALD HR-D (High-Risk, Regimen C)N-acetylcysteine and celecoxib start day of admission (prior to conditioning regimen) and continue through day +100 | Drug | cALD HR-C (High-Risk, Regimen C) |
| cALD 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 | Drug | cALD HR-D (High-Risk, Regimen D) |
Primary outcome
Percent of subjects who achieve high-level donor hematopoietic engraftment
Time frame: Day +42 post-transplant
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
Percent of subjects who achieve high-level donor hematopoietic engraftment
Time frame: Day +100 post-transplant
Defined as ≥ 80% donor cells on the myeloid fraction of peripheral blood at Day +100 post-transplant
5 secondary outcomes
Graft-versus-host disease
Time frame: Day +100 post-transplant
Transplant-related mortality
Time frame: Day +100 post-transplant
Regimen-related toxicity
Time frame: Day +100 post-transplant
Post-HSCT changes in disease
Time frame: 1 year
Post-HSCT changes in disease
Time frame: 2 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Nov 2026.
Related trials for Mucopolysaccharidosis Disorders
Active, not recruitingObservational study
Evaluation of Intravenous Laronidase Pharmacokinetics Before and After Hematopoietic Cell Transplantation in Patients With Mucopolysaccharidosis Type IH.
Hematopoietic Cell Transplantation, Mucopolysaccharidosis Type I
RecruitingPhase 1/2
Study of DNL126 in Pediatric Participants With Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome Type A)
Mucopolysaccharidosis Type IIIA
Enrolling by invitationPhase 2/3
An Extension Study of the Long-Term Safety, Tolerability, and Efficacy of Tividenofusp Alfa (DNL310) in Participants With Mucopolysaccharidosis Type II (MPS II) From Study DNLI-E-0002 or Study DNLI-E-0007
Mucopolysaccharidosis II
Enrolling by invitationPhase 2
Extension Study of Infigratinib in Children With Achondroplasia (ACH)
Achondroplasia
RecruitingObservational study
Cardiac Structure and Function in MPS
MPS I, MPS IV A
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Paul Orchard, M.D. principal investigator
Masonic Cancer Center, University of Minnesota
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Stem Cell Transplantation, IMD Preparative Regimen and Osteopetrosis Only Preparative Regimen in people with Mucopolysaccharidosis Disorders and Hurler Syndrome, run by Masonic Cancer Center, University of Minnesota at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 32 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 3 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Percent of subjects who achieve high-level donor hematopoietic engraftment (time frame: Day +42 post-transplant). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Nov 2026.