A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA

The Journal of Pediatrics
Elsa ShapiroChester Whitley

Abstract

To characterize the clinical course of mucopolysaccharidosis type IIIA (MPS IIIA), and identify potential endpoints for future treatment trials. Children with a confirmed diagnosis of MPS IIIA, functioning above a developmental age of 1 year, were followed for up to 2 years. Cognitive status and brain atrophy were assessed by standardized tests and volumetric magnetic resonance imaging, respectively. Liver and spleen volumes and cerebrospinal fluid and urine biomarker levels were measured. Twenty-five children, from 1.1 to 18.4 years old, were enrolled, and 24 followed for at least 12 months. 19 exhibited a rapidly progressing (RP) form of MPS IIIA, and 5, a more slowly progressing form. Children with RP plateaued in development by 30 months, followed by rapid regression after 40-50 months. In patients with RP, cognitive developmental quotients showed consistent steep declines associated with progressive cortical gray matter atrophy. Children with slowly progressing had a similar but more prolonged course. Liver and spleen volumes were approximately double normal size, and cerebrospinal fluid and urine heparin sulfate levels were elevated and relatively constant over time. Developmental quotient and cortical gray matter volume ...Continue Reading

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Citations

Mar 10, 2016·Paediatric Anaesthesia·Elif C CingiKumar G Belani
May 3, 2016·Molecular Genetics and Metabolism·Elsa ShapiroAndrew E Mulberg
May 24, 2016·Molecular Genetics and Metabolism·Simon A JonesFrits A Wijburg
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Jan 24, 2019·Journal of Inherited Metabolic Disease·Stephanie C M NijmeijerIrene M Kuipers
May 13, 2018·Orphanet Journal of Rare Diseases·Elsa G ShapiroJulie B Eisengart
Feb 6, 2020·Journal of Clinical Medicine·Rachel Heon-RobertsAlexey V Pshezhetsky
May 25, 2020·Journal of Pediatric Endocrinology & Metabolism : JPEM·Weijing KongXiuyu Shi
Sep 19, 2020·Journal of Inherited Metabolic Disease·Berna Seker YilmazJulien Baruteau
Jun 28, 2017·Orphanet Journal of Rare Diseases·Arunabha GhoshSimon A Jones
Nov 18, 2018·Italian Journal of Pediatrics·Miriam RigoldiMaria Teresa Mascia
Nov 14, 2019·Orphanet Journal of Rare Diseases·Stephanie C M NijmeijerMargreet A E M Wagenmakers
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Sep 9, 2019·Molecular Genetics and Metabolism·Jennifer T Saville, Maria Fuller
Mar 21, 2021·Molecular Genetics and Metabolism·Elsa G Shapiro, Julie B Eisengart
May 9, 2021·Molecular Genetics and Metabolism·Nicolas J AbreuKevin M Flanigan
May 29, 2021·Journal of Inherited Metabolic Disease·Arunabha GhoshSimon A Jones
Jul 24, 2021·Pediatric Neurology·Elsa Shapiro, Richard Ziegler
Jul 13, 2021·Molecular Genetics and Metabolism·Frits A WijburgDavid Alexanderian
Aug 8, 2021·International Journal of Molecular Sciences·Christiane S HampeR Scott McIvor

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