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

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT00317616

Acronym

Pre-fALS

Enrollment

500

Registered

2006-04-25

Start date

2006-04-01

Completion date

2037-12-01

Last updated

2026-03-20

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Amyotrophic Lateral Sclerosis

Keywords

FALS, SOD1, familial, genetic testing, genetic counseling, ALS, C9ORF72, TARDBP, VCP, FUS, PFN1

Brief summary

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.

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

Inclusion criteria

* 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 criteria

* Diagnosis of ALS * 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.

Design outcomes

Primary

Measure	Time frame
Risk Factors for Progression to familial ALS	Years

Countries

United States

Contacts

CONTACTAnne-Laure M Grignon, MD

fals@med.miami.edu1-888-413-9315

PRINCIPAL_INVESTIGATORMichael G Benatar, MD, PhD.

University of Miami

Outcome results