Effects of enzyme replacement therapy on bone density in late onset Pompe disease.

Abstract

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.

• Authors: Mahima Avanti, Angela Martin, Rod Carlo Columbres, Tahseen Mozaffar, Virginia Kimonis
• Journal: Molecular genetics and metabolism (Mol Genet Metab) Vol. 140 Issue 3 Pg. 107644 (11 2023) ISSN: 1096-7206 [Electronic] United States
• PMID: 37515933 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2023. Published by Elsevier Inc.

Chemical References

• alpha-Glucosidases

Topics

• Male
• Female
• Humans
• Glycogen Storage Disease Type II (drug therapy)
• Bone Density
• Enzyme Replacement Therapy (methods)
• alpha-Glucosidases (genetics, therapeutic use)
• Osteoporosis (drug therapy, etiology)