Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II, and VI: Data from a 10-year prospective study.

Autor: Miller BS; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA., Fung EB; Divisions of Hematology and Gastroenterology, University of California, San Francisco Benioff Children's Hospital, Oakland, California, USA., White KK; Department of Orthopedics, University of Colorado, Denver, Colorado, USA., Lund TC, Harmatz P; Divisions of Hematology and Gastroenterology, University of California, San Francisco Benioff Children's Hospital, Oakland, California, USA., Orchard PJ; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA., Whitley CB; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA., Polgreen LE; Institute for Translational Genomics and Population Sciences, The Lundquist Institute, and Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, California, USA.
Jazyk: angličtina
Zdroj: Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Jul; Vol. 46 (4), pp. 695-704. Date of Electronic Publication: 2023 Mar 06.
DOI: 10.1002/jimd.12598
Abstrakt: The mucopolysaccharidosis (MPS) disorders have many potential new therapies on the horizon. Thus, historic control data on disease progression and variability are urgently needed. We conducted a 10-year prospective observational study of 55 children with MPS IH (N = 23), MPS IA (N = 10), non-neuronopathic MPS II (N = 13), and MPS VI (N = 9) to systematically evaluate bone and joint disease. Annual measurements included height, weight, and goniometry. Mixed effects modeling was used to evaluate changes over time. All participants had been treated with hematopoietic cell transplantation and/or enzyme replacement therapy. Height z-score decreased over time in MPS IH, MPS II, and MPS VI, but not MPS IA. Adult heights were 136 ± 10 cm in MPS IH, 161 ± 11 cm in MPS IA, 161 ± 14 cm in MPS II, and 128 ± 15 cm in MPS VI. Adult average BMI percentiles were high: 75 ± 30%ile in MPS IH, 71 ± 37%ile in MPS IA, 71 ± 25%ile in MPS II, and 60 ± 42%ile in MPS VI. Every participant had joint contractures of the shoulders, elbows, hips, and/or knees. Joint contractures remained stable over time. In conclusion, despite current treatments for MPS I, II, and VI, short stature and joint contractures persist. The elevation in average BMI may be related, in part, to physical inactivity due to the ongoing bone and joint disease. Data from this longitudinal historical control study may be used to expedite testing of experimental bone and joint directed therapies and to highlight the need for weight management as part of routine clinical care for patients with MPS.
(© 2023 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.)
Databáze: MEDLINE
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