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.

Population

Healthy individuals who harbor a mutation in a gene associated with ALS.

Brief Title

The Pre-symptomatic Familial Amyotrophic Lateral Sclerosis (Pre-fALS) Study

Official Title

The Pre-symptomatic Familial Amyotrophic Lateral Sclerosis (Pre-fALS) Study

Brief Summary

Pre-fALS is a prospective natural history and biomarker study of people not yet affected with <br /> ALS, but who are at genetic risk for developing ALS. The investigators aim to recruit <br /> unaffected (healthy) people from familial ALS (fALS) pedigrees in which a known genetic <br /> mutation associated with ALS has been identified; for this study, a fALS pedigree is one with <br /> two biologically related individuals who have or have had ALS and/or FTD. Individuals who may <br /> be at genetic risk for ALS and who belong to families with at least one affected family <br /> member who has tested positive for a known ALS genetic mutation may also be eligible to <br /> participate. Our goal is to study the pre-symptomatic phase, onset and progression of ALS and <br /> to learn more about genetic and environmental factors that put people at risk for developing <br /> ALS.

Detailed Description

Healthy individuals from fALS families with a known genetic mutation will be included in this
study. We encourage people who have previously undergone genetic testing and were found to
carry the mutation that affects their family as well as those who do not know their genetic
status to contact us. Those who wish to participate and to learn the results of genetic
testing, may do so after undergoing genetic counseling. It is also possible to participate
without learning the results of genetic testing. Participants eligible to complete study
visits will travel to Miami (at our expense) approximately every 12-24 months for a period of
10 years or longer and will perform various biomarker procedures. Between visits,
participants will complete phone calls about their health.