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

NCT00317616 | Recruiting

• 1 other identifier: Pre-fALS
• Study Type: observational
• Target: 500
• Locations: 1 country
• Sites: 1

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

Keywords

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

Outcome Measures

Primary Outcomes (1)

• Risk Factors for Progression to familial ALS

  Years

Study Arms (1)

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).

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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)

You may not qualify if:

• 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.

Sponsors & Collaborators

• University of Miami: lead
• ALS Association: collaborator

Study Sites (1)

University of Miami

Miami, Florida, 33136, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Serum, Plasma, CSF, DNA, Urine, Cell lines

MeSH Terms

Conditions

Amyotrophic Lateral Sclerosis; Frontotemporal Dementia With Motor Neuron Disease

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; TDP-43 Proteinopathies; Neuromuscular Diseases; Proteostasis Deficiencies; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Michael G Benatar, MD, PhD.

  University of Miami

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Anne-Laure M Grignon, MD

CONTACT

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

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: April 24, 2006
• First Posted: April 25, 2006
• Study Start: April 1, 2006
• Primary Completion (Estimated): December 1, 2037
• Study Completion (Estimated): December 1, 2037
• Last Updated: March 20, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)