Prospective natural history study of C9orf72ALS clinical characteristics and biomarkers
Our team’s hard work has been published in Neurology. This paper profiles the clinical features, such as age at disease onset, survival duration, and measures of disease progression, of ALS patients with mutations in the C9orf72 gene. By defining the natural history of this patient population, this work establishes a framework for the design of C9orf72 ALS-targeted clinical trials, such as NCT03626012. In addition to these clinical findings, this paper explored pathological features of the disease in patient blood, cerebrospinal fluid, and autopsy brain tissue, and uncovered new and interesting correlations with clinical characteristics.
Congratulations to all the authors on their hard work and a special thank you to all the patient participants and caregivers for their time, energy, and commitment to ALS research!
Check out the publication here