Sandhoff Disease
Sandhoff disease is a rare genetic disorder characterized by the absence or deficiency of an enzyme called beta-hexosaminidase. Our company excels in the realm of rare diseases like Sandhoff disease, offering a unique array of advantages tailored to researchers and scientists in this specialized field.
Overview of Sandhoff Disease
Sandhoff disease is a rare genetic disorder that falls under the umbrella of GM2 gangliosidoses, with a relatively low incidence rate of approximately 1 in every 500,000 individuals. This condition is characterized by the absence or insufficiency of an essential enzyme called beta-hexosaminidase, leading to the accumulation of gangliosides, a type of fatty substance, in cells throughout the body, particularly in the brain and nerve cells.
Fig.1 Physiopathological events in GM2 gangliosidoses. (Leal, A. F., et al., 2020)
Sandhoff disease is an autosomal recessive disorder caused by mutations in the HEXB gene, which provides instructions for making the beta-hexosaminidase enzyme. The absence or dysfunction of beta-hexosaminidase leads to the progressive accumulation of GM2 gangliosides in various tissues. This buildup primarily affects the central nervous system, leading to neurodegeneration, loss of motor skills, intellectual disability, seizures, and other neurological symptoms.
Fig.2 Structure of HexA and HexB. (Leal, A. F., et al., 2020)Diagnostics Development of Sandhoff Disease
Enzyme Assays
Measurement of beta-hexosaminidase activity in blood or other tissues can help confirm the enzyme deficiency characteristic of Sandhoff disease.
Genetic Testing
Genetic testing through sequencing of the HEXB gene can identify the specific mutations underlying the disorder, aiding in a precise and accurate diagnosis.
Therapeutics Development of Sandhoff Disease
| Types | Drug Names | Mechanism of Action | Targets | Research Phase |
|---|---|---|---|---|
| Small molecule drugs | Genz-529468 | A more potent iminosugar-based inhibitor of GCS | GCS | Preclinical research |
| EtDO-PIP2 | Reduce the total content of brain and liver gangliosides | Glucosyltransferase | Preclinical research | |
| Gene Therapy | ssAAV9-HexBP2A-HexA | Increase enzyme activity and reduce GM2 gangliosides levels both in brain and serum | HEXA and HEXB | Preclinical research |
| AXO-AAV-GM2 | Introduce a functional copy of the HEXA and HEXB genes | HEXA and HEXB | Phase I/II trials |
Our Services
Our state-of-the-art facilities are equipped with cutting-edge technologies and resources specifically designed for rare disease research, such as advanced animal models and therapeutic development platforms that cater to the intricate needs of studying and understanding rare genetic disorders such as Sandhoff disease.
Therapeutics Development Platforms
Animal Models of Sandhoff Disease
Animal models are important for understanding the progression of Sandhoff disease, identifying potential therapeutics, and testing new therapies. Our company provides various animal models for you to explore novel therapeutic strategies to improve outcomes for individuals affected by this rare genetic disorder.
| Genetically Engineered Models | ||
| The genetic engineering animal models are created through genetic engineering techniques such as CRISPR/Cas9 to mimic the genetic mutations found in humans with Sandhoff disease. | ||
| Optional Models |
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| Optional Species | Mice, Rats, Cats, Zebrafish, Non-Human Primates, Others | |
Why Choose Us
We provide comprehensive one-stop services including pharmacokinetic studies and drug safety evaluation, which empower researchers to drive groundbreaking discoveries and advancements in the field of rare genetic disorders.
If you are interested in our services, we invite you to reach out to us for detailed insights and comprehensive quotations.
References
- Leal, Andrés Felipe et al. "GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies." International journal of molecular sciences 21.17 (2020): 6213.
- Shaimardanova, Alisa A et al. "Gene Therapy of Sphingolipid Metabolic Disorders." International journal of molecular sciences 24.4 (2023): 3627.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.