Why was this summit held?

This summit was held to foster a breakdown of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) disease silos. Areas included all levels of investigation, from basic research through biomarker development, therapeutic target discovery and therapeutics development, and clinical trial design. Additional aims were evaluate the most effective treatment and care of individuals affected by FTD/ALS, including the most prevalent familial form of FTD/ALS, C9ORF72-related FTD/ALS, discussions, and collaborative efforts.

What were key takeaways from this summit?

Critical information in our understanding of the biology around the C9ORF72 expansion is still lacking, and many questions remain unanswered: What molecular and cellular changes occur at pre-symptomatic stages and how early do they occur? Why are some individuals only affected with ALS-associated symptoms, while others show FTD-associated clinical symptoms, and yet others have symptoms of both diseases? How do non-neuronal cells respond to the C9ORF72 repeat expansion, how do they contribute to neuronal degeneration, and do these contributions differ between the frontal cortex and spinal cord?

Biomarkers, based on both imaging and on molecular readouts, are crucial to improving disease modeling, predicting disease progression, predicting onset of symptoms spanning ALS and FTD, and determining which therapies are engaging their targets in all affected brain regions.

Basket and/or platform trials are needed that include all patient subgroups, including mutation carriers and patients experiencing the FTD/ALS disease spectrum.