Pompe Disease
Pompe disease also referred to as glycogen storage disease type II or acid maltase deficiency, stands as a rare genetic disorder recognized for the accumulation of glycogen in diverse tissues and organs, notably within muscles. Our company excels in the field of rare diseases, including Pompe disease, and extends comprehensive services to experts and researchers immersed in this domain.
Overview of Pompe Disease
Manifesting as an autosomal recessive disorder, Pompe disease showcases an estimated incidence of 1 in 100,000 to 40,000 live births. The disease's severity showcases a wide spectrum, spanning from severe infantile-onset to milder late-onset forms.
- Infantile-onset Pompe disease (IOPD) is the most severe and typically presents within the first few months of life. It affects various muscle groups, including the heart, leading to cardiac hypertrophy (enlargement of the heart) and progressive muscle weakness.
- Late-onset Pompe disease (LOPD) has a later onset, typically in childhood, adolescence, or adulthood. It primarily affects skeletal muscles, leading to weakness and respiratory problems. The progression of the disease can be slow or rapid, varying from person to person.
Fig.1 GAA alteration that caused glycogen storage in lysosomes of Pompe disease cells. (Taverna, S., et al., 2020)
Pathogenesis of Pompe Disease
The underpinning etiology of Pompe disease pertains to the malfunctions or inadequacies of the acid alpha-1,4-glucosidase (GAA) enzyme responsible for glycogen breakdown into glucose. The absence or deficiency of the GAA enzyme precipitates Pompe disease, fostering glycogen accumulation within cells, especially in muscle cells. This clogged buildup impedes normal muscular and organ operations, thereby giving rise to the symptomatic profile associated with the disease.
Fig.2 Pathogenic cascade of muscle damage in Pompe disease. (Meena, N. K., and Raben, N., 2020)Therapeutics Development of Pompe Disease
| Types | Names | Mechanism of Action | Targets | Research Phase |
|---|---|---|---|---|
| Enzyme Replacement Therapy | Alglucosidase alfa | Replace the deficient or dysfunctional enzyme with recombinant human GAA (rhGAA) | Alfa-glucosidase | Approved |
| Avalglucosidase alfa | Replace the deficient or dysfunctional enzyme | Alfa-glucosidase | Approved | |
| ATB200 | A rhGAA carrying M6P and bis-M6P glycan residues | Alfa-glucosidase | Phase III trials | |
| Gene Therapy | AAV2/8-LSPhGAA (ACTUS-101) | Providing cells with a healthy copy of the GAA gene to restore functional GAA enzyme production | GAA | Phase I trials |
| SPK-3006 | Produce a modified GAA enzyme | GAA | Phase I/II trials | |
| Substrate Reduction Therapy | MZE001 | Small-molecule inhibitors of human skeletal muscle glycogen synthase | Glycogen synthase | Phase I trials |
Our Services
Our key strengths lie in our deep expertise and knowledge of rare diseases, including the latest advancements in Pompe Disease research. We offer a diverse range of resources and state-of-the-art platforms including animal model and therapeutic development, and contribute to improving the lives of affected individuals worldwide.
Therapeutics Development Platforms
Animal Models of Pompe Disease
Animal models of Pompe disease play a crucial role in understanding the disease, exploring its mechanisms, and evaluating potential therapies. Our company provides various animal models to help researchers investigate disease progression, evaluate therapy efficacy, and develop novel interventions for this rare genetic disorder.
Chemical-induced animal models of Pompe disease involve the administration of specific compounds or substances to induce symptoms resembling those seen in the disease.
Optional Models: Chloroquine-induced model, etc.
Genetic engineering animal models of Pompe disease involve the manipulation of the animal's genome to introduce specific mutations or alterations in the GAA gene.
Optional Models: tGAA-/- model; GAA-KO/SCID model; etc.
Why Choose Us
Through our comprehensive services including pharmacokinetic studies and drug safety evaluations, researchers and scientists can benefit from tailored support. With our dedication to rare diseases and our commitment to providing top-notch services, we strive to empower researchers and scientists to make significant breakthroughs in the field of Pompe disease.
To embark on a journey of collaboration and exploration, connecting with our team promises a synergistic blend of expertise and resources, propelling your research toward success.
References
- Meena, Naresh K, and Nina Raben. "Pompe Disease: New Developments in an Old Lysosomal Storage Disorder." Biomolecules 10.9 (2020): 1339.
- Taverna, Simona et al. "Pompe disease: pathogenesis, molecular genetics and diagnosis." Aging 12.15 (2020): 15856-15874.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.