A recent publication, Design considerations for C9orf72 disease prevention trials, arose from a two-day workshop that was led by Adam Boxer, MD, PhD, (UCSF) and Michael Benatar, MD, PhD, (University of Miami) and highlights the tools needed to design a clinical trial where therapeutic approaches would be applied during the earliest stages of neurodegenerative diseases linked to the C9orf72 mutation. Together, FTD and ALS experts, persons with lived experience of disease, nonprofit partners, and representatives from government and regulatory agencies came together to discuss these key concepts.

The C9orf72 mutation is associated with genetic risk of frontotemporal degeneration (FTD) and amyotrophic lateral sclerosis (ALS). Individuals with this mutation can exhibit symptoms of one or both diseases. Despite progress in our understanding of biological changes that occur due to the C9orf72 mutation, clinical trials targeting C9orf72-disease mechanisms have not yet shown clinical benefits. Thus, some researchers suspect that earlier intervention, even during pre-symptomatic stages, may yield better results. In turn, the concept of a prevention trial is being explored as an alternative approach for C9orf72-diseases.

The workshop was organized by AFTD with support from the ALS Association. AFTD’s financial support of the meeting was made possible through the generously of the Samuel I. Newhouse Foundation.