Studies people at genetic risk for ALS before symptoms appear
Follows unaffected people from families with a known ALS gene mutation over time.
Plain-language title generated from the registry record
Registry title: The Pre-symptomatic Familial Amyotrophic Lateral Sclerosis (Pre-fALS) Study
Key facts
- Where
- Miami, United StatesSee the site
Where in United States
- University of MiamiMiami, United StatesTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- University of Miami
- Trial code
- NCT00317616
- Record updated
- 20 March 2026
- Original description
Pre-fALS is a prospective natural history and biomarker study of people not yet affected with ALS, but who are at genetic risk for developing ALS. The investigators aim to recruit unaffected (healthy) people from familial ALS (fALS) pedigrees in which a known genetic mutation associated with ALS has been identified; for this study, a fALS pedigree is one with two biologically related individuals who have or have had ALS and/or FTD. Individuals who may be at genetic risk for ALS and who belong to families with at least one affected family member who has tested positive for a known ALS genetic mutation may also be eligible to participate. Our goal is to study the pre-symptomatic phase, onset and progression of ALS and to learn more about genetic and environmental factors that put people at risk for developing ALS.Read full original descriptionShow less
The Pre-symptomatic Familial Amyotrophic Lateral Sclerosis (Pre-fALS) Study
Pre-fALS is a prospective natural history and biomarker study of people not yet affected with ALS, but who are at genetic risk for developing ALS. The investigators aim to recruit unaffected (healthy) people from familial ALS (fALS) pedigrees in which a known genetic mutation associated with ALS has been identified; for this study, a fALS pedigree is one with two biologically related individuals who have or have had ALS and/or FTD. Individuals who may be at genetic risk for ALS and who belong to families with at least one affected family member who has tested positive for a known ALS genetic mutation may also be eligible to participate. Our goal is to study the pre-symptomatic phase, onset and progression of ALS and to learn more about genetic and environmental factors that put people at risk for developing ALS.
Inclusion: A member of a family in which a mutation in a gene associated with ALS has been identified; No symptoms to suggest the presence of ALS (i.e. study participants must currently be healthy); Having at least 50% probability of carrying an ALS associated gene mutation based on family pedigree; Willingness to undergo genetic testing, with the option of whether or not to learn the results; Willingness and availability to travel to Miami for a few days approximately every 12 to 24 months to complete biomarker procedures (e.g, MRI, blood draws, spinal tab/lumbar puncture, cognitive testing).
Exclusion: Any condition or situation which, in the PI's opinion, could confound the biomarker data or may interfere with the individual's participation and compliance with the study protocol, including but not limited to neurological, psychological and/or medical conditions; Diagnosis of ALS.