Lafora Disease

Lafora disease is a rare, fatal autosomal recessive form of progressive myoclonus epilepsy. Leveraging our pioneering efforts in Lafora disease research, Protheragen is at the forefront of developing cutting-edge therapies to enhance the effective management of Lafora disease. As your trusted partner in Lafora disease drug development research, we provide unparalleled support to meet your research needs.

Overview of Lafora Disease

Lafora disease is a unique type of progressive myoclonus epilepsy (PME) that is both rare and hereditary. It manifests in the form of uncontrolled seizures, severe and progressive neurological decline, and untimely death. It usually manifests between the ages of 10 and 17, and Lafora disease is marked by severe myoclonus, dementia, and ataxia which culminate in death about a decade after the symptoms first start to appear. Lafora disease is estimated to occur in 4 people per 1 million people.

Fig.1 An empirical pipeline for personalized diagnosis of Lafora disease (LD) mutations. (Brewer, M. Kathryn, et al., 2021)

Pathogenesis of Lafora Disease

The pathogenesis of Lafora disease is characterized by genetic mutations on either the EPM2A or EPM2B gene, causing aberrations in glycogen metabolism which results in the irregular formation of polyglucosan inclusions, Lafora bodies, within neurons. These insoluble aggregates disrupt cellular autophagy, initiate mitochondrial dysfunction, and induce oxidative stress, which sequentially leads to neuronal hyperexcitability and degeneration. The absence of operational laforin or malin proteins results in unchecked glucose polymer metabolism, altered glycogen synthase, and abnormal activity in the protein clearing mechanism as well as the protein, drives altered signaling in the neurotransmitters, and progressive myoclonus epilepsy emerges alongside progressive neurological decline.

Fig.2 Some of the identified alterations in Lafora disease (LD). (García-Gimeno, et al., 2018)

Therapeutic Development for Lafora Disease

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

As a leader in rare epileptic syndrome research, Protheragen offers comprehensive preclinical services to advance Lafora disease therapeutics from discovery to validation. Our specialized platforms integrate genetic analysis and disease-specific modeling to replicate disease pathology with high fidelity. Using advanced blood-brain barrier (BBB) models, we optimize central nervous system (CNS) drug delivery while evaluating neuroprotection and off-target effects.

Therapeutic Development Services

By Molecule Types

• Small Molecule Drug Development
• Therapeutic Antibody Development
• Cell Therapy Development
• Therapeutic Peptide Development
• Gene Therapy Development
• Therapeutic Protein Development

By Mechanism of Action

• Neuroprotective Agent Development
• Mitochondria-targeted Drug Development
• Glutamate Modulator Development
• Protein Misfolding Inhibitor Development
• Anti-neuroinflammatory Drug Development
• Protein Aggregation Inhibitor Development
• Antioxidant Development
• Excitotoxicity Inhibitor Development

Disease Model Development Services

At Protheragen, we are committed to validating and optimizing therapies for Lafora disease through preclinical studies including pharmacodynamics (PD), pharmacokinetics (PK) and toxicology to ensure their successful regulatory approval. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.

References

1. Brewer, M. Kathryn, et al. "An empirical pipeline for personalized diagnosis of Lafora disease mutations." Iscience 24.11 (2021).
2. García-Gimeno, Maria Adelaida, Erwin Knecht, and Pascual Sanz. "Lafora disease: a ubiquitination-related pathology." Cells 7.8 (2018): 87.

Related Services