Genomic Translation for ALS Care (GTAC) - WGS

To look for genetic correlates of disease progression, the GTAC study recruited patients with motor neuron disease from 13 academic medical center clinics and followed them longitudinally for up to 5 years. Participants were regularly assessed for changes in respiratory function, the ALS Functional Rating Scale, and the ALS Cognitive Behavioral Scale. Participants underwent PCR-free whole genome sequencing on the Illumina NovaSeq, as well as repeat-prime PCR assessment of the C9ORF72 repeat expansion. Participants had PBMCs and whole blood RNA banked for future correlative studies. ]]>
Participants had any level of the El Escorial Criteria, and included patients with the ALS-spectrum diseases called progressive bulbar palsy, primary lateral sclerosis, progressive muscular atrophy. Participants who were already on fulltime non-invasive or who had invasive ventilation were excluded, as were patients with active HIV, hepatitis B or C.]]>