Pompe Disease: a Clinical, Diagnostic, and Therapeutic Overview.

David StevensShadi Milani-NejadTahseen Mozaffar

Published in: Current treatment options in neurology (2022)

There are significant unmet needs as it relates to clinical care and therapeutics in Pompe disease as well as in research. The currently available treatments lose effectiveness over the long run and do not have penetration into neuronal tissues and inconsistent penetration in certain muscles. More definitive gene therapy and enzyme replacement strategies are currently in development and testing.

Keyphrases

gene therapy
late onset
healthcare
replacement therapy
randomized controlled trial
systematic review
gene expression
early onset
small molecule
radiation therapy
subarachnoid hemorrhage