In vitro diagnosis is crucial for early identification and timely intervention of Pompe disease. Dedicated to pushing the boundaries of Pompe disease diagnostics, our company is at the forefront of developing customized IVD solutions. Through the creation of pioneering IVD regents/kits and automated diagnostic devices, we strive to confront the intricacies and diagnostic hurdles inherent in Pompe disease pathology, revolutionizing the detection and therapeutics of this condition.
Overview of Pompe Disease
Pompe disease, also known as glycogen storage disease type II (GSD-II), is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). This enzymatic deficiency leads to the accumulation of glycogen in various tissues, predominantly affecting muscle and nerve cells. Initially identified in 1932 by Joannes Cassianus Pompe, this metabolic disorder manifests in two main forms: infantile-onset and late-onset.
| Disease Forms |
Characteristics |
Prevalence |
| Infantile-onset Form |
The infantile-onset form typically presents within the first few months of life with severe symptoms such as cardiomyopathy, muscle weakness, and respiratory distress. |
1 in 40,000-138,000 births |
| Late-onset Form |
The late-onset form has a slower progression and can manifest at any age, often with milder cardiac involvement and more prominent skeletal issues. |
Rare |
Pathogenesis of Pompe Disease
The pathogenesis of Pompe disease revolves around the impaired breakdown of glycogen within the lysosomes due to the deficiency of GAA. This results in the progressive accumulation of glycogen, leading to cellular dysfunction and ultimately tissue damage. The inability to metabolize glycogen properly affects various body tissues, including the heart, skeletal muscles, liver, and nervous system. The genetic basis of Pompe disease involves mutations in the GAA gene on chromosome 17, following an autosomal recessive pattern of inheritance.
Fig. 1 The disease mechanisms of Pompe disease. (Meena N K, Raben N., 2020)
Diagnostic Development for Pompe Disease
In vitro diagnostic (IVD) development for Pompe disease involves the use of laboratory tests to detect genetic mutations or specific biomarkers associated with the disease.
Enzyme Activity Assays
The first strategy for IVD development is to measure acid alpha-glucosidase (GAA) enzyme activity. Reduced levels of GAA enzyme activity are characteristic of Pompe disease. Enzyme activity assays help confirm the diagnosis of Pompe disease and differentiate it from other glycogen storage disorders.
Genetic Testing
Genetic testing plays a vital role in the in vitro diagnosis of Pompe disease, especially identifying the pathogenic mutation in the GAA gene. PCR or next-generation sequencing (NGS) can be used to pinpoint the specific mutation associated with Pompe disease and confirm the disease.
Biomarker Analysis
Measuring specific biomarkers in biological samples can help complement the first two diagnostic tests to achieve a comprehensive diagnosis of Pompe disease. For example, elevated levels of glycogen or specific proteins in a blood or urine sample can provide additional evidence of Pompe disease.
Our Services
Specializing in tailored in vitro diagnostic (IVD) solutions for rare genetic disorders like Pompe disease, our company is dedicated to creating custom genetic testing kits that precisely detect the pathogenic mutation in the GAA gene. By delving into the pathological metabolic pathways of Pompe disease, we are able to develop corresponding diagnostic kits for specific biomarkers to achieve convenient and comprehensive diagnosis. Supported by our diagnostic devices, these kits can achieve maximum detection specificity, sensitivity, and accuracy.
IVD Product Development Services
Optional IVD Products
- GAA Gene Testing Kits
- GAA Enzyme Activity Detection Kits
- Glycogen Detection Kits
- Primers and Probes
- DNA Extraction Reagents
- PCR Reagents
- Nucleic Acid Extractor
- PCR Instrument
- DNA Sequencer
- And More
We offer point-of-care testing solutions and companion diagnostic development services tailored for Pompe disease. These services expedite the identification of biomarkers related to Pompe disease, enabling prompt diagnosis and personalized therapeutic strategies customized to individuals.
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.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
