Mucopolysaccharidosis I: Management and Treatment Guidelines

• Published in: Pediatrics (Evanston) 2009-01, Vol.123 (1), p.19-29
• Main Authors: Muenzer, Joseph, Wraith, James E, Clarke, Lorne A, and International Consensus Panel on Management and Treatment of Mucopolysaccharidosis I
• Format: Article
• Language: English
• Subjects: Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy; Biological and medical sciences; Bone marrow, stem cells transplantation. Graft versus host reaction; Carbohydrates (enzymatic deficiencies). Glycogenosis; Care and treatment; Children & youth; Clinical outcomes; Demographic aspects; Disease Management; Enzyme therapy; Enzymes; Errors of metabolism; General aspects; Genetic aspects; Genetic disorders; Health aspects; Humans; Internationality; Medical case management; Medical sciences; Metabolic diseases; Mucopolysaccharidoses; Mucopolysaccharidosis; Mucopolysaccharidosis I - complications; Mucopolysaccharidosis I - diagnosis; Mucopolysaccharidosis I - epidemiology; Mucopolysaccharidosis I - therapy; Pediatrics; Stem cells; Therapy; Transfusions. Complications. Transfusion reactions. Cell and gene therapy; Transplants & implants; Treatment Outcome
• ISSN: 0031-4005; 1098-4275
• DOI: 10.1542/peds.2008-0416

Disease management for mucopolysaccharidosis type I has been inconsistent because of disease rarity (approximately 1 case per 100,000 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. 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. 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 < 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). 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.