PESA is a non-sponsored study in which we look for early disease manifestations of ALS or FTD in relatives of ALS/FTD patients with a known gene mutation.

Runs and recruits

There are no conclusive treatments for ALS. One of the reasons for this is the long time between the onset of the disease and the diagnosis of ALS (about a year on average). By the time treatment starts, a whole portion of the motor nerve cells have already disappeared and this process is irreversible. The discovery of hereditary forms of ALS allows us to look for early disease manifestations of ALS or FTD that occur before people notice. By examining family members of patients with a gene mutation, we hope to identify early changes in the brain and motor nerve cells. Since these family members have a 50% chance of having inherited the gene defect, we can compare individuals from the same families with and without a gene mutation. The aim of the study is to develop tests that will allow diagnosing the disease even before the person notices it. After all, treatments are more likely to have an effect at this early stage of the disease, as not much damage to the nervous system has yet occurred.