Strategic Amyotrophic Lateral Sclerosis Australia–Systems Genomics Consortium (SALSA-SGC): cohort profile
Anjali K Henders, Laura Ziser, Fleur C Garton, Lorel Adams, Karalyn Ernst, Sarah Furlong, Judith Anne Heads, Susan Heggie, Ruth Krasniqi, Madhura Bhadravathi Lokeshappa, Srestha Mazumder, Elyshia McNamara, Amanda MacShane, Linda Mekhael, Lorelle Nunn, Bronwen Orden, Julie Ryder, Kathryn Thorpe, Marie Toubia, Leanne M Wallace, Dina Wickremeratne, Emma Windebank, Beben Benyamin, Shyuan Ngo, Garth Nicholson, Roger Pamphlett, Frederik J Steyn, Peter M Visscher, Kelly L Willams, Robert Henderson, Matthew C Kiernan, Nigel Laing, Susan Mathers, Pamela A McCombe, Merrilee Needham, Dominic Rowe, David Schultz, Paul Talman, Steve Vucic, Ian P Blair, Allan F McRae, Naomi R WrayPurpose
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative motor neuron disease (MND) with heterogeneity in disease onset, progression and treatment response. The Strategic ALS Australia–Systems Genomics Consortium (SALSA-SGC) was established in recognition of the need for large data sets of clinical data matched with biological samples to enable and foster ALS research and better understanding of aetiology and biological mechanisms. SALSA-SGC brought together the major Australian MND clinics to set up sustainable infrastructure that could facilitate long-term human ALS research and clinical trials nationally and internationally.
Participants
Between April 2016 and December 2024, SALSA-SGC recruited 1813 participants, including 1386 ALS/MND cases, 388 controls and 39 others (asymptomatic relatives and ALS mimics). Clinical data and biospecimens are available for 1333 and 1189 ALS cases, respectively, with longitudinal data spanning 4442 total clinic visits and 3201 samples. An open-access online data explorer showcases collected datasets.
Findings to date
Detailed clinical and questionnaire data allow an in-depth description of the cohort, informing clinical and health policy research. Screening for known ALS large-effect risk variants identified 125 mutation carriers (11.5% from N=1059), including 70 with C9orf72 expansions. Single Nucleotide Polymorphism (SNP)-array data (N=1088 cases; N=244 controls) have supported multiple published studies. SALSA-SGC resources are actively used by national and international researchers.
Future plans
Ongoing efforts aim to expand recruitment into regional Australia and enhance sample processing for cell-based studies. The SALSA-SGC resource is accessible by researchers under agreements governed by participant consent, human ethics committee guidelines and agreed use of data and samples.