Strategic Amyotrophic Lateral Sclerosis Australia-Systems Genomics Consortium (SALSA-SGC): cohort profile

Area of Science:

• Neuroscience
• Genetics
• Clinical Research

Background:

• Amyotrophic lateral sclerosis (ALS), a motor neuron disease (MND), presents with varied onset, progression, and treatment responses.
• The Strategic ALS Australia-Systems Genomics Consortium (SALSA-SGC) was created to address the need for extensive clinical and biological data for ALS research.

Purpose of the Study:

• To establish a sustainable infrastructure for long-term human ALS research and clinical trials.
• To foster a deeper understanding of ALS aetiology and biological mechanisms through comprehensive data collection.

Main Methods:

• Recruited 1813 participants (1386 ALS/MND cases, 388 controls) between April 2016 and December 2024.
• Collected longitudinal clinical data and biospecimens from ALS cases, with an open-access online data explorer.

Main Results:

• Detailed cohort data inform clinical and health policy research.
• Identified 125 mutation carriers (11.5%) including 70 with C9orf72 expansions.
• SNP-array data have supported multiple published studies, with SALSA-SGC resources actively used by researchers.

Conclusions:

• The SALSA-SGC provides a valuable, actively utilized resource for national and international ALS research.
• Ongoing expansion aims to increase recruitment and enhance sample processing for future studies.