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Pompe Disease

Pompe disease is an autosomal recessive lysosomal storage disorder caused by acid alpha-glucosidase (GAA) deficiency. At Protheragen, we are committed to advancing the understanding and management of Pompe disease through cutting-edge therapeutic development and disease modeling services. Our goal is to provide end-to-end solutions for the entire process from Pompe disease therapeutic research to commercialization.

Introduction to Pompe Disease

Pompe disease (glycogen storage disease type II) is an autosomal recessive lysosomal storage disorder caused by deficiency of acid alpha-glucosidase (GAA), leading to pathological accumulation of glycogen in lysosomes primarily affecting cardiac, skeletal, and smooth muscles. The disease presents as a clinical spectrum with two major subtypes:

Subtypes	Onset Age	GAA Activity	Key Clinical Features	Prognosis
Infantile-Onset Pompe Disease (IOPD)	<12 months	<1% normal	Cardiomegaly, hypotonia, respiratory failure	Fatal by age 1-2 years without treatment
Late-Onset Pompe Disease (LOPD)	Childhood to adulthood	1-30% normal	Progressive limb-girdle weakness, respiratory insufficiency	Variable (wheelchair dependence by 3rd-5th decade)

Pathogenesis of Pompe Disease

Pompe disease results from GAA gene mutations causing acid alpha-glucosidase (GAA) deficiency, which impairs lysosomal glycogen breakdown. This leads to progressive glycogen accumulation in cardiac and skeletal muscle lysosomes, disrupting autophagy, mitochondrial function, and calcium homeostasis, ultimately triggering myocyte degeneration and respiratory/cardiac failure. The severity correlates with residual GAA activity, with <1% causing lethal infantile forms.

The pathogenic cascade of muscle damage in Pompe disease. Fig.1 Pathogenic cascade of muscle damage in Pompe disease. (Meena N K, Raben N., 2020)

Therapeutic Development for Pompe Disease

Drug Names	Mechanism of Action	Targets	NCT Number	Research Phase
Alglucosidase alfa	Recombinant human acid α-glucosidase (GAA) enzyme replacement	Lysosomal GAA enzyme	NCT04676373	Approved
S-606001	Gene therapy delivering functional GAA via AAV vector	GAA gene	NCT07123155	Phase II
VAL-1221	Recombinant GAA fused with anti-insulin receptor antibody for enhanced CNS delivery	Insulin receptor, Lysosomal acid α-glucosidase	NCT02898753	Phase I/II

Disclaimer: Protheragen focuses on providing preclinical research services. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.

Our Services

To advance the effective management of Pompe disease, Protheragen offers comprehensive diagnostic and therapeutic development services. With a focus on the diverse molecular mechanisms driving Pompe disease, we are dedicated to developing innovative and targeted therapies that address the significant unmet medical needs. Our team excels in creating highly accurate disease models, enabling rigorous evaluation of the safety, efficacy, and mechanism of action of potential therapeutics.

Therapeutic Development Services

By Molecule Types

By Mechanism of Action

Disease Model Development Services

In Vitro Model Development
Patient-Derived Cell Model Development Neuronal Cell Model Development Glial Cell Model Development	Co-Culture Model Development Brain Organoid Development Spinal Cord Organoid Development
Microfluidic Model Development
Neurovascular Unit (NVU) Model Development Axon Degeneration Model Development Neuromuscular Junction (NMJ) Model Development	Neuroinflammation Model Development Synaptic Plasticity Model Development Organoid-on-a-Chip Model Development
Animal Model Development
GAA Knockout Model: This complete GAA knockout model exhibits <1% residual GAA activity, resulting in systemic glycogen accumulation, severe cardiomyopathy, and early mortality, faithfully replicating infantile-onset Pompe disease pathology. GAA^c.1826dupA Knock-in Model: This genetically engineered model carries the human pathogenic GAA c.1826dupA mutation and exhibits mutation-specific phenotypes, including progressive muscle weakness and cardiac hypertrophy, while maintaining partial lysosomal function for therapeutic response studies.

At Protheragen, we are dedicated to supporting the development of innovative therapies through comprehensive preclinical research services. Our expertise spans pharmacodynamics (PD), pharmacokinetic (PK) and toxicology studies, ensuring a thorough evaluation of your therapeutic candidates. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.

Reference

Meena N K, Raben N. Pompe disease: new developments in an old lysosomal storage disorder[J]. Biomolecules, 2020, 10(9): 1339.

For research use only. Not intended for any clinical use.