Published online December 29, 2008
PEDIATRICS Vol. 123 No. 1 January 2009, pp. 19-29 (doi:10.1542/peds.2008-0416)
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ARTICLE

Mucopolysaccharidosis I: Management and Treatment Guidelines

Joseph Muenzer, MD, PhDa, James E. Wraith, MB, ChBb, Lorne A. Clarke, MDc and the International Consensus Panel on the Management and Treatment of Mucopolysaccharidosis I

a Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina, Chapel Hill, North Carolina
b Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester, United Kingdom
c Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada

OBJECTIVE. Disease management for mucopolysaccharidosis type I has been inconsistent because of disease rarity (~1 case per 100000 live births), phenotypic heterogeneity, and limited therapeutic options. The availability of hematopoietic stem cell transplantation and the recent introduction of enzyme replacement therapy for mucopolysaccharidosis I necessitate the establishment of system-specific management guidelines for this condition.

METHODS. Twelve international experts on mucopolysaccharidosis I met in January 2003 to draft management and treatment guidelines for mucopolysaccharidosis I. Initial guidelines were revised and updated in 2008, on the basis of additional clinical data and therapeutic advances. Recommendations are based on our extensive clinical experience and a review of the literature.

RESULTS.All patients with mucopolysaccharidosis I should receive a comprehensive baseline evaluation, including neurologic, ophthalmologic, auditory, cardiac, respiratory, gastrointestinal, and musculoskeletal assessments, and should be monitored every 6 to 12 months with individualized specialty assessments, to monitor disease progression and effects of intervention. Patients are best treated by a multidisciplinary team. Treatments consist of palliative/supportive care, hematopoietic stem cell transplantation, and enzyme replacement therapy. The patient's age (>2 years or ≤2 years), predicted phenotype, and developmental quotient help define the risk/benefit profile for hematopoietic stem cell transplantation (higher risk but can preserve central nervous system function) versus enzyme replacement therapy (low risk but cannot cross the blood-brain barrier).

CONCLUSION. We anticipate that provision of a standard of care for the treatment of patients with mucopolysaccharidosis I will optimize clinical outcomes and patients' quality of life.

Key Words: {alpha}-L-iduronidase • biochemical genetics • enzyme replacement therapy • guidelines • hematopoietic stem cell transplantation • lysosomal storage disorder • mucopolysaccharidosis

Abbreviations: MPS—mucopolysaccharidosis • CSF—cerebrospinal fluid • ERT—enzyme replacement therapy • HSCT—hematopoietic stem cell transplantation • DQ—developmental quotient

Accepted Apr 4, 2008.


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(How) can safer transplantation influence "management and treatment guidelines" for MPS-I?
Jaap J Boelens, et al.
Pediatrics Online, 12 Mar 2009 [Full text]