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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT00317616
Recruitment Status : Recruiting
First Posted : April 25, 2006
Last Update Posted : April 13, 2022
ALS Association
Information provided by (Responsible Party):
Michael Benatar, University of Miami

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.

Condition or disease
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.

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Study Type : Observational
Estimated Enrollment : 500 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: The Pre-symptomatic Familial Amyotrophic Lateral Sclerosis (Pre-fALS) Study
Study Start Date : April 2006
Estimated Primary Completion Date : December 2027
Estimated Study Completion Date : December 2027

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 Measures :
  1. Risk Factors for Progression to familial ALS [ Time Frame: Years ]

Biospecimen Retention:   Samples With DNA
Serum, Plasma, CSF, DNA, Urine, Cell lines

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Healthy individuals who harbor a mutation in a gene associated with ALS.

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00317616

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Contact: Anne-Laure M Grignon, MD 1-888-413-9315 fals@med.miami.edu

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United States, Florida
University of Miami Recruiting
Miami, Florida, United States, 33136
Contact: Anne-Laure Grignon    888-413-9315    fals@med.miami.edu   
Contact: Danielle Dauphin         
Sponsors and Collaborators
University of Miami
ALS Association
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Principal Investigator: Michael G Benatar, MD, PhD. University of Miami
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Responsible Party: Michael Benatar, Professor, University of Miami
ClinicalTrials.gov Identifier: NCT00317616    
Other Study ID Numbers: Pre-fALS
First Posted: April 25, 2006    Key Record Dates
Last Update Posted: April 13, 2022
Last Verified: April 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Michael Benatar, University of Miami:
genetic testing
genetic counseling
Additional relevant MeSH terms:
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Motor Neuron Disease
Amyotrophic Lateral Sclerosis
Pathologic Processes
Neurodegenerative Diseases
Nervous System Diseases
Neuromuscular Diseases
Spinal Cord Diseases
Central Nervous System Diseases
TDP-43 Proteinopathies
Proteostasis Deficiencies
Metabolic Diseases