Recruiting

Observational Study

Sponsor:

University of Miami

Code:

NCT00317616

Conditions

Amyotrophic Lateral Sclerosis

Eligibility Criteria

Sex: All

Age: 18+

Healthy Volunteers: Not accepted

Study Details

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.

Conditions

Amyotrophic Lateral Sclerosis

Study ID

NCT00317616

Start date

Apr, 2006

Status verified date

Mar, 2026

Completion date

Dec, 2037

Anticipated

Primary completion date

Dec, 2037

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 18+

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

500 participants

Anticipated

Interventions and Outcome Measures

Arms

Unaffected individuals from families in which the genetic cause of ALS is known

This population would include pre-symptomatic individuals at genetic risk for ALS or a related neurodegenerative disorder (i.e., FTD).

Primary outcome measure

  • Risk Factors for Progression to familial ALS [ Time Frame: Years ]

Central Contacts and Locations

Central contacts

Anne-Laure M Grignon, MD

1-888-413-9315fals@med.miami.edu

Locations

University of Miami

Recruiting

Miami, Florida, United States, 33136

Contacts

Anne-Laure Grignon

1-888-413-9315fals@med.miami.edu

More Information

Sponsor

University of Miami

Last update posted

Mar 20, 2026

Last verified

Mar, 2026

Keywords

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

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by University of Miami on 2026-03-20.