Effects of enzyme replacement therapy on bone density in late onset Pompe disease.
Alglucosidase alpha
Bone mineral density
DEXA
Dual energy X-ray absorptiometry
Enzyme replacement therapy
Late-onset Pompe disease
Journal
Molecular genetics and metabolism
ISSN: 1096-7206
Titre abrégé: Mol Genet Metab
Pays: United States
ID NLM: 9805456
Informations de publication
Date de publication:
11 2023
11 2023
Historique:
received:
08
02
2023
revised:
26
06
2023
accepted:
27
06
2023
medline:
14
11
2023
pubmed:
30
7
2023
entrez:
29
7
2023
Statut:
ppublish
Résumé
Pompe disease is an autosomal recessive disorder caused by a deficiency of α-glucosidase, resulting in the accumulation of glycogen in smooth, cardiac, and skeletal muscles, leading to skeletal muscle dysfunction, proximal muscle weakness, and early respiratory insufficiency. Although many patients exhibit decreased bone mineral density (BMD) and increased fractures, there is currently no official protocol for surveillance and management of osteoporosis and osteopenia in late onset Pompe disease (LOPD). Enzyme replacement therapy (ERT) has therapeutic effects on muscle function; however, very few studies report on the effect of ERT on bone mineralization in LOPD patients. Our study included 15 Pompe patients from 25 to 76 years of age on ERT for variable durations. Progressive impact of ERT on BMD of the hips and spine, and the frequency of osteopenia or osteoporosis was studied using DEXA scanning, and correlations were made with age of initiation of ERT, duration of ERT and six-minute walk test. We found a significant positive correlation between the age of ERT initiation and age of the subject, with increases in the Z-scores for the femur and lumbar region. Females had a significantly higher risk for developing osteoporosis compared to males. These results highlight the significance of ERT on reducing progression of osteoporosis in LOPD patients.
Identifiants
pubmed: 37515933
pii: S1096-7192(23)00274-3
doi: 10.1016/j.ymgme.2023.107644
pii:
doi:
Substances chimiques
alpha-Glucosidases
EC 3.2.1.20
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
107644Informations de copyright
Copyright © 2023. Published by Elsevier Inc.
Déclaration de conflit d'intérêts
Declaration of Competing Interest VK is the Principal Investigator for the Rare Diseases Sanofi Registry. VK also received funding for outreach education programs for lysosomal storage diseases. AM received fellowship funding from Sanofi-Genzyme. TM reports participating in paid advisory capacity to Sanofi, Amicus, Astellas Gene Therapy, Maze Therapeutics and Spark Therapeutics. He serves on the speaker bureau for Sanofi. He has received research support from Sanofi, Amicus, Valerion, Astellas Gene Therapy, and Spark Therapeutics.