Physical Function and Health-Related Quality of Life in Adults Treated With Asfotase Alfa for Pediatric-Onset Hypophosphatasia.

CLINICAL STUDY ENZYME REPLACEMENT THERAPY HYPOPHOSPHATASIA PHYSICAL PERFORMANCE REAL‐WORLD EVIDENCE

Journal

JBMR plus
ISSN: 2473-4039
Titre abrégé: JBMR Plus
Pays: England
ID NLM: 101707013

Informations de publication

Date de publication:
Sep 2020
Historique:
received: 07 04 2020
revised: 02 07 2020
accepted: 13 07 2020
entrez: 30 9 2020
pubmed: 1 10 2020
medline: 1 10 2020
Statut: epublish

Résumé

Hypophosphatasia (HPP) is a rare, inherited, metabolic disease characterized by tissue-nonspecific alkaline phosphatase deficiency resulting in musculoskeletal and systemic clinical manifestations. This observational study evaluated the effectiveness of enzyme replacement therapy with asfotase alfa on physical function and health-related quality of life (HRQoL) among adults with pediatric-onset HPP who received asfotase alfa for 12 months at a single center (ClinicalTrial.gov no.: NCT03418389). Primary outcomes evaluated physical function with the 6-minute walk test (6MWT), timed up-and-go (TUG) test, Short Physical Performance Battery (SPPB), and handheld dynamometry (HHD). Secondary outcome measures included the Lower Extremity Functional Scale (LEFS), pain prevalence/intensity, and pain medication use; HRQoL was evaluated using the 36-Item Short-Form Health Survey version 2 (SF-36v2). Safety data were collected throughout the study. All 14 patients (11 women) had compound heterozygous

Identifiants

pubmed: 32995696
doi: 10.1002/jbm4.10395
pii: JBM410395
pmc: PMC7507107
doi:

Types de publication

Clinical Trial

Langues

eng

Pagination

e10395

Informations de copyright

© 2020 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.

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Auteurs

Franca Genest (F)

Orthopedic Department University of Würzburg Würzburg Germany.

Dominik Rak (D)

Orthopedic Department University of Würzburg Würzburg Germany.

Anna Petryk (A)

Alexion Pharmaceuticals, Inc. Boston MA USA.

Lothar Seefried (L)

Orthopedic Department University of Würzburg Würzburg Germany.

Classifications MeSH