Table 2.

Summary of C9ORF72 Biomarker working group discussion

C9ORF72 Biomarker working group summary points
1. Make better use of existing multimodal biomarker data across the different C9ORF72 cohorts to improve disease modeling from the earliest possible time through to the symptomatic period
2. Develop an enhanced knowledge of how C9ORF72 expansion carriers compensate for underlying pathological changes during the asymptomatic period. Develop this knowledge by determining which metabolic markers exist for this mechanism
3. Expand the panel of biomarkers that predict both phenoconversion and being in proximity to phenoconversion
4. Create personalized phenotypic markers in C9ORF72 expansion carriers that have the potential to allow better subgroup identification, such as a group with more inflammation than others
5. Include improved pharmacodynamic biomarkers of target engagement in future trials
6. In general, the ALS and FTD communities need to have better linking and collaboration and better access to cohort resources, such as a repository of images and fluid samples. Also, work needs to occur to validate biomarkers instead of simply developing biomarkers