Glycogen Storage Disease (GSD)
Glycogen storage disease (GSD) encompasses a group of rare genetic disorders characterized by recurring hypoglycemia, muscle weakness, and liver damage. With our company's profound expertise in GSD research, we are well-equipped to offer tailored solutions and comprehensive support to facilitate your research process from GSD therapy development to therapy commercialization.
Introduction to Glycogen Storage Disease
Glycogen storage diseases refer to a cluster of uncommon hereditary metabolic disorders that impair the normal storage and utilization of glycogen in the body. This metabolic disorder usually occurs in muscle or liver cells. In the United States, the estimated occurrence of glycogen storage diseases is approximately 1 in 20,000-25,000 births.
Fig. 1 Consequences of defective G6Pase. (Derks, Terry GJ, et al., 2021)Pathogenesis of Glycogen Storage Disease
Glycogen storage diseases are attributed to genetic mutations that disrupt the normal function of enzymes responsible for glycogen synthesis or breakdown. As a result, there is an abnormal accumulation or depletion of glycogen in different tissues. Here are several common types of glycogen storage diseases and their respective pathogenesis.
| Disease Types | Deficient Enzyme (Gene) | Symptoms |
|---|---|---|
| GSD Type I (Von Gierke Disease) | Glucose-6-phosphatase/Glucose-6-phosphate translocase (G6PC/SLC37A4/SLC17A3) | Severe hypoglycemia, liver enlargement, and growth retardation |
| GSD Type II (Pompe Disease) | Acid alpha-glucosidase/ Lysosome-associated membrane protein 2 (GAA/LAMP2) | Muscle weakness, breathing problems, and heart problems |
| GSD Type III (Cori Disease) | Glycogen debranching enzyme (AGL) | Muscle weakness, hepatomegaly, and hypoglycemia |
| GSD Type V (McArdle Disease) | Glycogen branching enzyme (GBE1) | Exercise intolerance, muscle cramps, and fatigue |
Types of Glycogen Storage Disease Therapy
Enzyme Replacement Therapy (ERT)
Enzyme replacement therapy (ERT) involves the use of functional enzymes to compensate for enzyme deficiencies or dysfunction in individuals with GSD. For Pompe disease, ERT using recombinant acid α-glucosidase has shown promising results in improving muscle function and respiratory function in affected individuals.
Substrate Reduction Therapy (SRT)
SRT is another therapeutic strategy being explored for GSD. This approach aims to reduce the accumulation of toxic metabolites or substrates that result from the impaired enzyme function in GSD. By limiting the availability of these substrates, SRT can help alleviate the symptoms and slow down the progression of the disease.
Gene Therapy
Gene therapy holds great promise for the therapeutics of genetic disorders, including certain types of GSD. This approach involves the delivery of functional genes to the cells of affected individuals to restore the production of the deficient enzyme. Gene therapy offers a potential long-term solution, as it aims to correct the underlying genetic defect.
Our Services
Drawing upon our deep expertise in biotechnology and extensive experience in the industry, our company offers all-encompassing solutions for diagnostic and therapeutic research dedicated to glycogen storage disease.
- Diagnostic Development Services: For rare genetic diseases such as glycogen storage disease, our company offers diagnostic development services. We are dedicated to assisting you in the development of rapid and point-of-care diagnostic tests for glycogen storage disease, ensuring accurate and timely detection.
- Therapeutic Development Services: Our company provides a wide range of services for the development of small molecule drug, cell therapy, gene therapy, therapeutic antibody, therapeutic peptide, and therapeutic protein. Our research expertise lies in the field of gene therapy, which holds significant potential as a future therapeutic approach for glycogen storage diseases.
- Animal Model Development Service: To support the preclinical research and development of glycogen storage disease therapeutics, we offer animal models development services to facilitate your pharmacokinetics study and drug safety evaluation.
| Genetically Engineered Models | |||
|---|---|---|---|
| Our company utilizes state-of-the-art transgenic technology and gene editing techniques such as CRISPR/Cas9 to introduce specific mutations into genes related to glycogen metabolism in animals. This enables us to generate animal models that accurately replicate the physiological characteristics observed in individuals with glycogen storage diseases. | |||
| Optional Models |
|
|
|
| Spontaneous Models | |||
| In some cases, animal models of glycogen storage disease occur naturally due to spontaneous mutations in genes associated with glycogen metabolism. These models are valuable resources as they closely resemble the human disease condition without the need for genetic manipulation. Researchers can study the phenotypic features, disease progression, and response to therapies in these naturally occurring models. | |||
| Optional Species | Mice, Quails, Cats, Dogs, Sheep, Cattle, Horses, Zebrafish, Others | ||
No matter what stage of research you are at, we can provide you with corresponding research services. If you are interested in our services, please feel free to contact us for more details and quotation information for related services.
References
- Derks, Terry GJ, et al. "Glycogen storage disease type Ia: current management options, burden and unmet needs." Nutrients 13.11 (2021): 3828.
- Almodóvar-Payá, Aitana, et al. "Preclinical research in glycogen storage diseases: A comprehensive review of current animal models." International journal of molecular sciences 21.24 (2020): 9621.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.