Clinical insights in enzyme replacement therapy for metabolic storage disorders: lessons from Pompe disease.
van der Beek NAME, Theunissen MTM, van den Hout JMP, Pijnappel WWM, Schoser B, Laforêt P, Parenti G, van Doorn PA, van der Ploeg AT
The Lancet. Neurology, 2025 Mar
Abstract
Metabolic storage disorders, including lysosomal storage disorders, pose complex challenges in management due to their progressive and life-threatening nature. Although enzyme replacement therapy has substantially improved outcomes for patients with lysosomal storage disorders, limitations of this therapy have become apparent throughout two decades of use. New clinical features of these diseases have emerged as patients live longer, leading to unresolved questions regarding ongoing treatment and long-term care. Innovative therapies are emerging that aim to improve targeting of tissues, particularly for previously inaccessible areas such as the CNS. These next-generation treatments hold promise for enhancing patient outcomes beyond what enzyme replacement therapy can do. Continued exploration of novel therapeutic strategies will be crucial for providing more effective and personalised care for these complex diseases.