Dataset Information

Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome).

ABSTRACT: BACKGROUND:The skeletal phenotype of mucopolysaccharidosis VI (MPS VI) is characterized by short stature and growth failure. OBJECTIVE:The purpose of this study was to construct reference growth curves for MPS VI patients with rapidly and slowly progressive disease. METHODS:We pooled cross-sectional and longitudinal height for age data from galsulfase (Naglazyme(®), BioMarin Pharmaceutical Inc.), treatment naïve patients (n?=?269) who participated in various MPS VI studies, including galsulfase clinical trials and their extension programs, the MPS VI clinical surveillance program (CSP), and the MPS VI survey and resurvey studies, to construct growth charts for the MPS VI population. There were 229 patients included in this study, of which data from 207 patients ?25 years of age with 513 height measurements were used for constructing reference growth curves. RESULTS:Height for age growth curves for the 5th, 10th, 25th, 50th, 75th, 90th, and 95th percentiles were constructed for patients with rapidly and slowly progressing disease defined by the pre-enzyme replacement therapy (ERT) uGAG levels of > or ?200 ?g/mg creatinine. The mean (SD) pre-ERT uGAG levels were 481.0 (218.6) and 97.8 (56.3) ?g/mg creatinine for the patients ?25 years of age with rapidly (n?=?131) and slowly (n?=?76) progressing MPS VI disease, respectively. The median growth curves for patients with ? and >200 ?g/mg creatinine were above and below the median (50th percentile) growth curve for the entire MPS VI population. CONCLUSION:MPS VI growth charts have been developed to assist in the clinical management of MPS VI patients.

SUBMITTER: Quartel A

PROVIDER: S-EPMC4361922 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome).

Quartel Adrian A Hendriksz Christian J CJ Parini Rossella R Graham Sue S Lin Ping P Harmatz Paul P

JIMD reports 20141218

<h4>Background</h4>The skeletal phenotype of mucopolysaccharidosis VI (MPS VI) is characterized by short stature and growth failure.<h4>Objective</h4>The purpose of this study was to construct reference growth curves for MPS VI patients with rapidly and slowly progressive disease.<h4>Methods</h4>We pooled cross-sectional and longitudinal height for age data from galsulfase (Naglazyme(®), BioMarin Pharmaceutical Inc.), treatment naïve patients (n = 269) who participated in various MPS VI studies, ...[more]

PMID: 25518809

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Project description:BackgroundResearch about pediatric patients' perspective on mucopolysaccharidosis type VI (MPS VI) and its impact on daily life is limited. We aimed to identify the disease concepts of interest that most impact function and day-to-day life of pediatric patients with MPS VI, and to consider clinical outcome assessments (COAs) that may potentially measure meaningful improvements in these concepts.MethodsPotential focus group participants were identified by the National MPS Society (USA) and invited to participate if they self-reported a clinician-provided diagnosis of MPS VI and were 4 to 18 years, receiving enzyme replacement therapy (ERT), and available to attend a 1-day focus group with their caregiver in Dallas, TX, USA. The focus group consisted of a series of polling and open-ended concept elicitation questions and a cognitive debriefing session. The discussion was audio recorded, transcribed verbatim, and analyzed to identify disease concepts of interest and functional impacts most relevant to participants.ResultsOverall, caregivers (n = 9) and patients with MPS VI (n = 9) endorsed that although their children/they receive ERT, residual symptoms exist and impact health-related quality of life. The key disease concepts of interest identified were impaired mobility, upper extremity and fine motor deficits, pain, and fatigue. Pain was unanimously reported by all patients across many areas of the body and impacted daily activity. Key disease concepts were mapped to a selection of pediatric COAs including generic measures such as PROMIS®, PODCI, CHAQ, and PedsQL™. Caregivers endorsed the relevance of PODCI and PROMIS Upper Extremity, Mobility, and Pain items and all patients completed the NIH Toolbox Pegboard Dexterity Test. Additional COAs that aligned with the disease concepts included range of motion, the 2- and 6-min walk tests, timed stair climbs, Bruininks-Oseretsky Test of Motor Proficiency, 2nd edition, grip strength, pain visual analog scale, and the Faces Pain Scale-Revised.ConclusionAn MPS VI focus group of pediatric patients and their caregivers identified impaired mobility, upper extremity and fine motor deficits, pain, and fatigue as key disease concepts of interest. These disease concepts were mapped to existing pediatric COAs, which were provided to the group for endorsement of their relevance.

Dataset Information

Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome).

Publications

Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome).

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