Study Summary
This study will perform whole genome sequencing (WGS) on DNA samples previously collected from patients with ALS or a related neurodegenerative disorder on whom we have less phenotypic data than is collected through the CReATe Phenotype, Genotype, and Biomarker (PGB) protocol.
For Diseases
- ALS (Amyotrophic Lateral Sclerosis)
- ALS-FTD (Amyotrophic Lateral Sclerosis - Frontotemporal Dementia)
- PLS (Primary Lateral Sclerosis)
- HSP (Hereditary Spastic Paraplegia)
- PMA (Progressive Muscular Atrophy)
- FTD (Frontotemporal Dementia)
- MSP (Multisystem Proteinopathy)
Background
The primary objectives of this study are:
- To generate whole genome sequencing (WGS) data from patients with ALS or a related disorder for whom less phenotypic data is available than is routinely collected through the CReATe Phenotype, Genotype, and Biomarker (PGB) protocol.
- To use this WGS dataset for genetic discovery as well as the validation of genetic discoveries made through the PGB cohort.
About This Study
This is a retrospective study as it performs whole genome sequencing on DNA samples that have previously been collected by investigators within the CReATe Consortium.
Enrollment Criteria
This is a retrospective study and is not enrolling any participants prospectively.
How to Participate:
Not open to prospective enrollment.