Health Related Quality of Life, Disability, and Pain in Alpha Mannosidosis

Journal of Inborn Errors of Metabolism and Screening. 2018;6 DOI 10.1177/2326409818796854

 

Journal Homepage

Journal Title: Journal of Inborn Errors of Metabolism and Screening

ISSN: 2326-4594 (Online)

Publisher: SciELO

Society/Institution: Latin American Society Inborn Errors and Neonatal Screening

LCC Subject Category: Medicine: Medicine (General)

Country of publisher: Brazil

Language of fulltext: English

Full-text formats available: PDF, HTML

 

AUTHORS

Line Borgwardt MD ( Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark)
Nathalie Guffon MD ( Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Femme Mère Enfant, Lyon, France)
Yasmina Amraoui MD ( University Medical Centre Mainz, Centre for Pediatric and Adolescent Medicine, Villa Metabolica, Mainz, Germany)
Simon A. Jones MD ( Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, United Kingdom)
Linda De Meirleir MD ( Paediatric Neurology and Metabolism, Universitair Ziekenhuis, Brussels, Belgium)
Allan M. Lund MD ( Centre for Inherited Metabolic Diseases, Departments of Paediatrics and Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark)
Mercedes Gil-Campos MD ( Unidad de Metabolismo e Investigación Pediátrica, Hospital Reina Sofía, Córdoba, Spain)
Johanna M. P. Van den Hout MD ( Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center—Sophia Children’s Hospital, Rotterdam, the Netherlands)
Anna Tylki-Szymanska MD ( Department of Paediatric, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Warsaw, Poland)
Silvia Geraci MS ( Chiesi Farmaceutici S.p.A, Parma, Italy)
Diego Ardigò MD, PhD ( Chiesi Farmaceutici S.p.A, Parma, Italy)
Federica Cattaneo MD ( Chiesi Farmaceutici S.p.A, Parma, Italy)
Paul Harmatz MD ( UCSF Benioff Children’s Hospital Oakland, Oakland, CA, USA)
Dawn Phillips PT, MS, PhD ( Evidera, Bethesda, MD, USA)

EDITORIAL INFORMATION

Blind peer review

Editorial Board

Instructions for authors

Time From Submission to Publication: 12 weeks

 

Abstract | Full Text

Alpha-mannosidosis, a rare lysosomal storage disorder caused by deficiency of the lysosomal enzyme alpha-mannosidase, results in accumulation of mannose-rich glycoproteins in the tissues and sequelae leading to intellectual disability, ataxia, impaired hearing and speech, recurrent infections, skeletal abnormalities, muscular pain, and weakness. This study aimed to investigate disability, pain, and overall health using the Childhood Health Assessment Questionnaire (CHAQ) and the EuroQol 5 Dimension-5 Level Questionnaire (EQ-5D-5L) in patients with alpha-mannosidosis participating in rhLAMAN-10, a phase III open-label, clinical trial of velmanase alfa, a recombinant human lysosomal alpha-mannosidase. Long-term prognoses for most patients with untreated alpha-mannosidosis are poor due to progressive neuromuscular, skeletal, and intellectual deterioration, leading to increased dependence in mobility and activities of daily living and increased caregiver and health-care burden. Long-term CHAQ and EQ-5D-5L data highlight improvement trends in health-related quality of life and a reduction in disability and pain in patients receiving up to 48 months of velmanase alfa treatment.