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

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.

Study Overview

• Status: Recruiting
• Conditions: Amyotrophic Lateral Sclerosis

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.

• Study Type: Observational
• Enrollment (Estimated): 500

Contacts and Locations

• Study Contact: Name: Anne-Laure M Grignon, MD; Phone Number: 1-888-413-9315; Email: fals@med.miami.edu

Study Locations

• United States
  • Florida
    • Miami, Florida, United States, 33136
      • Recruiting
      • University of Miami
      • Contact: Danielle Dauphin
      • Contact: Anne-Laure Grignon; Phone Number: 1-888-413-9315; Email: fals@med.miami.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

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

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
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).

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Risk Factors for Progression to familial ALS	Years

Collaborators and Investigators

• Sponsor: University of Miami
• Collaborators: ALS Association
• Investigators: Principal Investigator: Michael G Benatar, MD, PhD., University of Miami

Study record dates

Study Major Dates

• Study Start: April 1, 2006
• Primary Completion (Estimated): December 1, 2037
• Study Completion (Estimated): December 1, 2037

Study Registration Dates

• First Submitted: April 24, 2006
• First Submitted That Met QC Criteria: April 24, 2006
• First Posted (Estimated): April 25, 2006

Study Record Updates

• Last Update Posted (Actual): March 20, 2026
• Last Update Submitted That Met QC Criteria: March 19, 2026
• Last Verified: March 1, 2026

More Information

Terms related to this study

• Keywords: ALS; genetic testing; familial; C9ORF72; genetic counseling; FALS; SOD1; TARDBP; FUS; VCP; PFN1
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Neuromuscular Diseases; Metabolic Diseases; Neurodegenerative Diseases; Spinal Cord Diseases; TDP-43 Proteinopathies; Proteostasis Deficiencies; Motor Neuron Disease; Nutritional and Metabolic Diseases; Amyotrophic Lateral Sclerosis; Frontotemporal Dementia With Motor Neuron Disease
• Other Study ID Numbers: Pre-fALS

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No