PESA study on early disease manifestations of ALS or FTD

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

Active and recruiting

There are no adequate treatments for ALS. One of the reasons being the long time between the onset of the disease and the diagnosis of ALS (about one year on average). At the moment of the start of the treatment, a lot of the motor neuron 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 affect people before they notice. By examining family members of patients with a gene mutation, we hope to be able to identify early changes in the brain and in the motor neurons. Since these family members have a 50% chance of inheriting the gene defect, we can compare individuals from the same families with and without the gene mutation. The goal of the study is to develop tests that allow to diagnose the disease even before the person himself notices it. The possibility that treatments have an effect in this early stage of the disease is indeed bigger, since there is not yet much damage to the nervous system.