Hope for People with Lafora Disease
Lafora disease is a rare type of epilepsy that appears to be caused by changes in a single gene or a small number of related genes (what scientists refer to as ‘genetic mutations’). It is one of the most severe epileptic syndromes, leading to a decline in intellectual functioning, seizures and eventually death. Typically, Lafora Disease has its onset in the teenager years and symptoms appear unexpectedly.
Dr. Berge Minassian at the Hospital for Sick Children has found the genetic mutations that cause LaFora disease and is now searching for a cure. He has found that the genetic mutations lead to the production of a starch-like compound (known as a polysaccharide) that is not normally found in the brain and may lead to the formation of ‘Lafora bodies’. The Lafora bodies slowly build up in neurons and eventually cause the death of these brain cells.
Dr. Minassian is working on new drugs to prevent the formation of Lafora bodies or to encourage their breakdown. He is currently working in animals, but hopes to proceed to patients in the near future. He is in discussion with industrial partners who may help to take his work from bench to bedside.
Is there any drug that we can try nowadays to relieve the symptoms?
To our knowledge, there are no drugs currently available to relieve the symptoms of Lafora disease, highlighting the need for research to better understand and eventually treat this disease.
I would be interested to know all new advances in the Lafora investigation. Have the Dr. Berge Minassian an email or website where to know the advances?
Thanks in advance from Spain (Canary Island)
Hello Oscar, thank you for your question. You can stay up-to-date with Dr. Minassian’s research, and research on other therapies for drug-resistant epilepsy, by signing up for EpLink’s biweekly research updates at http://eepurl.com/bUq-Yv.