Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism

• Register: ClinicalTrials.gov
• Last refreshed on: 19 October 2017
• Main ID: NCT00668564
• Date of registration: 25/04/2008
• Prospective Registration: No
• Primary sponsor: Masonic Cancer Center, University of Minnesota
• Public title: Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism
• Scientific title: Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation
• Date of first enrolment: March 2008
• Target sample size: 18
• Recruitment status: Terminated
• URL: https://clinicaltrials.gov/show/NCT00668564
• Study type: Interventional
• Phase: Phase 2

Countries of recruitment

United States

Contacts

• Name: Paul Orchard, MD
• Affiliation: University of Minnesota Medical Center

Key inclusion & exclusion criteria

Inclusion Criteria:

- Mucopolysaccharidosis (MPS) Disorders:

- MPS IH (Hurler syndrome)

- MPS-VI (Maroteaux-Lamy syndrome)

- MPS VII (Sly syndrome).

- Glycoprotein metabolic disorders:

- Alpha mannosidosis

- Fucosidosis

- Aspartylglucosaminuria

- Sphingolipidoses and Recessive Leukodystrophies: Presymptomatic patients with globoid
cell leukodystrophy (GLD, also known as Krabbe disease) and metachromatic
leukodystrophy (MLD) will be eligible for treatment on this protocol. White matter
disease by magnetic resonance imaging (MRI) alone is not an exclusion if the patient
is asymptomatic.

- Peroxisomal Disorders: Presymptomatic patients with inherited peroxisomal disorders
associated with of very long chain fatty acids (VLCFA) elevation, identified by family
history or laboratory testing (including neonatal screening), are eligible for this
protocol. White matter disease by MRI alone is not an exclusion if the patient is
asymptomatic.

- Other Inherited Diseases of Metabolism:

- Wolman syndrome (acid lipase deficiency)

- Niemann-Pick B patients (sphingomyelin deficiency)

- Niemann-Pick C subtype 2

- Donor Availability: Patients considered for transplantation must have a sufficient
graft as based on current criteria of the University of Minnesota Blood and Marrow
Transplantation Program: Priority will be as follows, although in circumstances in
which timing is of the essence, cord blood grafts may be chosen over an unrelated
graft, despite the priority listed above.

- Multidisciplinary Evaluation: Patients will be eligible for transplantation only after
they are seen and evaluated by members of the Inherited Metabolic and Storage Disease
Program (IMSD) team, and the team has offered transplantation to the patient/family.

Exclusion Criteria:

- Symptomatic patients with peroxisomal or lysosomal disorders are excluded but may be
considered for other treatment protocols.

- Major organ dysfunction. Evidence of major organ impairment, including:

- Cardiac: left ventricular ejection fraction <40%

- Renal: serum creatinine >2.5 x normal for age

- Hepatic: total bilirubin >3 x normal, or Alanine transaminase (ALT) > 3 x normal

- Pulmonary: requirement for continuous oxygen supplementation

- Pregnancy

- Evidence of human immunodeficiency virus (HIV) infection or known HIV positive
serology

- Patients >21 years of age.



Age minimum: N/A
Age maximum: 21 Years
Gender: All

Health Condition(s) or Problem(s) studied

Maroteaux-Lamy Syndrome

Niemann-Pick Disease Type B

Krabbe Disease

Sly Syndrome

Alpha Mannosidosis

Hurler's Syndrome

Aspartylglucosaminuria

Niemann-Pick Disease, Type C

Sphingolipidoses

Fucosidosis

Wolman's Disease

Intervention(s)

Drug: Campath-1H

Drug: Busulfan

Drug: Cyclophosphamide

Procedure: Stem Cell Transplantation

Primary Outcome(s)

Number of Patients Achieving Engraftment [Time Frame: Day 100]

Secondary Outcome(s)

Overall Survival [Time Frame: Day 100, 1 Year, 3 Years]

Secondary ID(s)

MT2008-02

0801M25202

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Results

• Results available: Yes
• Date Posted: 13/07/2011
• URL: https://clinicaltrials.gov/ct2/show/results/NCT00668564