Study of healthy individuals at genetic risk for ALS

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

Observational University of Miami · NCT00317616

This study is looking at healthy people who have a family history of ALS to see how their genes and environment might affect their chances of developing the disease in the future.

Quick facts

Study typeObservational
Enrollment500 (estimated)
Ages18 Years and up
SexAll
SponsorUniversity of Miami Academic / other
Locations1 site (Miami, Florida)
Trial IDNCT00317616 on ClinicalTrials.gov

What this trial studies

The Pre-symptomatic Familial Amyotrophic Lateral Sclerosis (Pre-fALS) study is an observational study aimed at understanding the natural history and biomarkers of individuals who are genetically predisposed to develop ALS but are currently healthy. Participants from familial ALS pedigrees with known genetic mutations will be recruited to undergo periodic assessments, including biomarker procedures and health evaluations, over a span of 10 years or more. The study will also explore genetic and environmental factors that may contribute to the onset of ALS. Participants will have the option to learn their genetic testing results after receiving genetic counseling.

Who should consider this trial

Good fit: Ideal candidates are healthy individuals from families with a known genetic mutation associated with ALS who have at least a 50% probability of carrying the mutation.

Not a fit: Patients who are already diagnosed with ALS or have conditions that could confound the study results will not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to better understanding and early intervention strategies for individuals at risk of developing ALS.

How similar studies have performed: Other studies focusing on genetic predisposition to ALS have shown promise, but this specific approach to studying pre-symptomatic individuals is relatively novel.

Eligibility criteria

Show full inclusion / exclusion criteria
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.

Where this trial is running

Miami, Florida

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Amyotrophic Lateral SclerosisFALSSOD1familialgenetic testinggenetic counselingALSC9ORF72
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.