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

Mahima Avanti; Angela Martin; Rod Carlo Columbres; Tahseen Mozaffar; Virginia Kimonis

doi:10.1016/j.ymgme.2023.107644

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

Mol Genet Metab. 2023 Nov;140(3):107644. doi: 10.1016/j.ymgme.2023.107644. Epub 2023 Jun 28.

Authors

Mahima Avanti¹, Angela Martin¹, Rod Carlo Columbres¹, Tahseen Mozaffar², Virginia Kimonis³

Affiliations

¹ Division of Genetics, Department of Pediatrics, University of California - Irvine, Orange, CA 92697, United States of America.
² Division of Neuromuscular Diseases, Department of Neurology, University of California- Irvine, 200 S. Manchester Ave., Suite 206, Orange, CA, United States of America.
³ Division of Genetics, Department of Pediatrics, University of California - Irvine, Orange, CA 92697, United States of America; Division of Neuromuscular Diseases, Department of Neurology, University of California- Irvine, 200 S. Manchester Ave., Suite 206, Orange, CA, United States of America; Department of Pathology, University of California - Irvine, Orange, CA 92697, United States of America. Electronic address: vkimonis@uci.edu.

PMID: 37515933
DOI: 10.1016/j.ymgme.2023.107644

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.

Keywords: Alglucosidase alpha; Bone mineral density; DEXA; Dual energy X-ray absorptiometry; Enzyme replacement therapy; Late-onset Pompe disease.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

alpha-Glucosidases