Research from the Mayo Clinic is moving towards clinical trials for ALS

Groundbreaking research into amyotrophic lateral sclerosis (ALS) from a research team at Mayo Clinic discovered the genetic repeat mutation known as c9orf72 in 2011 could potentially hold insight on how to cure or possibly even prevent ALS in patients. This mutation occurs in 40 percent of all familial cases of patients with ALS and 10 percent of sporadic cases. Leonard Petrucelli, Ph.D.,chair member of neuroscience at Mayo Clinic’s Florida campus states “the identification of the gene was transformative for the field, it is rare to find any gene that has the potential to affect a lot of patients.” Since this groundbreaking break through several neuroscience labs in Florida have launched studies to tease apart the effects of the c9 mutation.   

Dr. Petrucelli’s lab discovered that the c9 mutation results in an unusual form of RNA, which allows the mutation to bypass the signals for healthy protein synthesis; this results in the accumulation of abnormal proteins. After accessing and analyzing Mayo Clinic’s brain bank that holds vast resources, Dr. Dickson’s researchers were able to recognize c9 as a repeat RNA and abnormal proteins as unique pathologies. These abnormalities are unique to only those individuals who have the c9 mutation.

Further investigations into how abnormal C9 mutations cause ALS lead to the discovery of another c9 protein called poly(GP) that decreased when neurons were treated with drugs that target the abnormal repeat RNA. Poly(GP) is the first pharmacodynamic marker for patients of ALS with the c9 mutation and may help make treatments available faster and rule out ineffective ones more quickly stated Dr. Grendon.

These findings have made it possible to develop clinical trials for individuals with the mutation. Given 40 percent of ALS patients are subject to this c9 mutation this breakthrough could enable researchers to take the next possible steps in treating ALS.

If you or a family member have been diagnosed with ALS and would like a medical second opinion, please contact us.

Source: https://advancingthescience.mayo.edu/2019/01/02/toward-clinical-trials-for-one-type-of-als/