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Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry
David Viskochil1, Lorne A Clarke2, Luisa Bay3
1Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah.
Abstract:
Mucopolysaccharidosis Type I (MPS I), caused by deficiency of α-L-iduronidase results in progressive, multisystemic disease with a broad phenotypic spectrum including patients with severe (Hurler syndrome) to attenuated (Hurler-Scheie and Scheie syndromes) disease. Disordered growth is common with either phenotype. The study objectives were to construct sex- and age-specific estimated length/height and head circumference growth curves for untreated individuals with severe and attenuated disease and compare them with clinical reference standards. Untreated individuals in the MPS I Registry with at least one observation for length/height and/or head circumference and assigned phenotype as of May 2017 were included. Median growth for 463 untreated individuals with severe disease deviated from reference growth curves by ~6 months of age and fell below the third percentile by 4 years of age. Median head circumference was above reference curves from 3 to 4 months through 3 years of age. Among 207 individuals with untreated attenuated disease, median height fell below the third percentile by 9 years of age with divergence from reference curves by 2 years of age. MPS I-specific growth curves will be useful in evaluation of long-term outcomes of therapeutics interventions and will provide a foundation for understanding the pathogenesis of skeletal disease in MPS I.
Insights
Growth charts for Mucopolysaccharidosis Type I (MPS I) reveal significant deviations from typical development in untreated children. MPS I growth curves are essential for assessing treatment effectiveness and understanding skeletal disease progression.
Area of Science:
- Genetics and rare diseases
- Pediatric endocrinology
- Skeletal dysplasias
Background:
- Mucopolysaccharidosis Type I (MPS I) is a rare genetic disorder caused by alpha-L-iduronidase deficiency.
- It leads to progressive, multisystemic disease with a wide range of severity, affecting growth and development.
- Disordered growth is a common feature across the spectrum of MPS I, from severe Hurler syndrome to attenuated Hurler-Scheie and Scheie syndromes.
Purpose of the Study:
- To establish sex- and age-specific growth curves for length/height and head circumference in untreated individuals with MPS I.
- To compare these novel MPS I growth curves against existing clinical reference standards.
- To provide a foundation for evaluating therapeutic interventions and understanding MPS I pathogenesis.
Main Methods:
- Utilized data from the MPS I Registry, including individuals with at least one length/height and/or head circumference measurement.
- Phenotype assignment (severe vs. attenuated MPS I) was based on data available as of May 2017.
- Constructed median growth curves and compared them to established reference standards.
Main Results:
- For severe MPS I (n=463), median height deviated from reference curves by 6 months and fell below the third percentile by age 4.
- Head circumference in severe MPS I was above reference curves from 3-4 months to 3 years of age.
- For attenuated MPS I (n=207), median height fell below the third percentile by age 9, diverging from reference curves by age 2.
Conclusions:
- Developed specific growth curves for untreated MPS I patients, highlighting significant growth deviations.
- These MPS I growth curves are crucial for monitoring treatment efficacy and long-term outcomes.
- The findings provide a baseline for understanding the skeletal disease progression in MPS I.
