The Latest Research in Lafora Disease – Summarized for Easy Reading

Research Simplified for Families

Interested in learning about the new research developments in Lafora disease in a concise and easy-to-read form?

Keep reading for summaries of some of the latest published research in Lafora disease. Our goal is to make the research easier to read and understand for families. You’ll find the research simplified in one-page PDFs, but we will also link to the full peer-reviewed publications.

1. Early Treatment With Metformin Improves Neurological Outcomes in Lafora Disease

• Metformin treatment was investigated in models of early and late stage Lafora disease, and was found to slow disease progression in both. Read more here. >
• Read the full peer-reviewed publication. >

2. Effect of Alglucosidase alfa (Myozyme) Therapy in Lafora Disease

• Myozyme is approved for treatment of Pompe Disease, and researchers investigated if the same treatment would be effective in Lafora disease. However, this study found that Myozyme does not effectively degrade Lafora Bodies. Read more here. >
• Read the full peer-reviewed publication. >

3. Antisense oligonucleotide (ASO) therapy targeting Gys1 gene

• ASO therapy has shown promising results in mouse models of Lafora disease, preventing Lafora Body formation and mitigating neuroinflammation. Read more here. > 
• Read the full peer-reviewed publication. >

4. Identifying CSF and PET scan biomarkers to evaluate progression of Lafora Disease

• Biomarkers are useful in identifying onset and progression of Lafora disease, as well as determining the efficacy of new treatments. Combining traditional CSF biomarkers with PET scans can improve diagnostic accuracy. Read more here. >
• Read the full peer-reviewed publication. >

Questions? Contact Maysoon Hussain (maysoonhussain1@chelseashope.org).