Health Related Quality of Life, Disability, and Pain in Alpha Mannosidosis: Long-Term Data of Enzyme Replacement Therapy With Velmanase Alfa (Human Recombinant Alpha Mannosidase)
J. inborn errors metab. screen
;
6: e180004, 2018. tab, graf
Article
in English
|
LILACS-Express
| LILACS
| ID: biblio-1090969
ABSTRACT
Abstract 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 recombinanthumanlysosomalalpha-mannosidase. Long-termprognosesformost patients withuntreatedalpha-mannosidosisarepoor 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.
Full text:
Available
Index:
LILACS (Americas)
Language:
English
Journal:
J. inborn errors metab. screen
Journal subject:
Medicina Cl¡nica
/
Patologia
Year:
2018
Type:
Article
/
Project document
Affiliation country:
Belgium
/
Denmark
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France
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Germany
/
Italy
/
Netherlands
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Poland
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Spain
/
United States
/
United kingdom
Institution/Affiliation country:
Center for Lysosomal and Metabolic Diseases/NL
/
Central Manchester University Hospitals NHS Foundation Trust/GB
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Centre de Référence des Maladies Héréditaires du Métabolisme/FR
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Chiesi Farmaceutici S.p.A/IT
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Copenhagen University Hospital/DK
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Evidera/US
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The Children's Memorial Health Institute/PL
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UCSF Benioff Children's Hospital Oakland/US
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Unidad de Metabolismo e Investigación Pediátrica/ES
/
Universitair Ziekenhuis/BE
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