The field of transplantation has evolved, since that time, resulting in decreased risks of graft failure and graft- versus-host disease, and decreasing or eliminating the use of radiation therapy in the preparative regimen. Much of the data referenced in regards to these outcomes, including the reports of Boelens and Peters, describe data that were collected on patients transplanted over a decade ago. Transplant outcomes in children with severe phenotype MPS I have continuously improved over the almost 3 decades since transplantation therapy was first used to treat children with this disease. We, as an international blood and marrow transplantation group, including 4 major hematopoietic stem cell transplant centers (Duke, Minnesota, Manchester and Utrecht) providing care for these children are writing to delineate our view of the benefits and risks of transplantation in MPS I. 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.ĭear editor, Muenzer et al recently published an important and comprehensive management and treatment guideline for MPS1 on behalf of a consensus panel with the goal of providing standards for the care and monitoring of these complex patients (Pediatrics 2009 123 19-29). 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).ĬONCLUSION. Treatments consist of palliative/supportive care, hematopoietic stem cell transplantation, and enzyme replacement therapy. Patients are best treated by a multidisciplinary team. 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. Recommendations are based on our extensive clinical experience and a review of the literature. Initial guidelines were revised and updated in 2008, on the basis of additional clinical data and therapeutic advances. Twelve international experts on mucopolysaccharidosis I met in January 2003 to draft management and treatment guidelines for mucopolysaccharidosis I. 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. 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.
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