Amyotrophic Lateral SclerosisPre-fALSNCT00317616
The Pre-symptomatic Familial Amyotrophic Lateral Sclerosis (Pre-fALS) Study
An observational study of Amyotrophic Lateral Sclerosis, run by University of Miami at 1 site in United States.
Trial 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… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Amyotrophic Lateral Sclerosis
- How many people
- 500 participants
- Where
- 1 siteUnited States
- Study dates
- Apr 2006to Dec 2037
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Healthy individuals who harbor a mutation in a gene associated with ALS.
Who may be able to join
- 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)
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
University of Miami
Miami, Florida, 33136
Anne-Laure Grignon, 1-888-413-9315, fals@med.miami.edu
Danielle Dauphin
About this study
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.
Read the 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.
- Conditions
- Amyotrophic Lateral Sclerosis
- Keywords
- FALS, SOD1, familial, genetic testing, genetic counseling, ALS, C9ORF72, TARDBP, VCP, FUS, PFN1
- Medical subject headings
- Amyotrophic Lateral Sclerosis, Frontotemporal Dementia With Motor Neuron Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 being measured
The primary outcome is the main question the study is designed to answer.
Risk Factors for Progression to familial ALS
Measured: Years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Apr 2006 (estimated)
- Study startApr 2006
- Primary completionDec 2037 (estimated)
- Study completionDec 2037 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Amyotrophic Lateral SclerosisStudies of the same condition, open and under way.
- More trials run by University of MiamiThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Miami
- Sponsor type
- University, hospital or other
- Collaborators
- ALS Association
- Responsible party
- Principal investigator, Michael Benatar, University of Miami
- Investigators
- Michael G Benatar, MD, PhD., Principal investigator, University of Miami
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00317616
- Sponsor's protocol ID
- Pre-fALS
- Acronym
- Pre-fALS
- Status last verified
- Mar 2026
- First submitted
- 24 Apr 2006
- Last updated
- 20 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Lee I, Garret MA, Wuu J, Harrington EA, Berry JD, Miller TM, Harms M, Benatar M, Shneider N. Body mass index is lower in asymptomatic C9orf72 expansion carriers but not in SOD1 pathogenic variant carriers compared to gene negatives. Amyotroph Lateral Scler Frontotemporal Degener. 2024 Nov;25(7-8):672-679. doi: 10.1080/21678421.2024.2396831. Epub 2024 Aug 27.
PubMed 39192497
Study at a glance
From the registry record, last updated by the sponsor on 20 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Pre-symptomatic Familial Amyotrophic Lateral Sclerosis (Pre-fALS) Study
- ClinicalTrials.gov ID
- NCT00317616
- Acronym / sponsor ID
- Pre-fALS / Pre-fALS
- Conditions
- Amyotrophic Lateral Sclerosis
- Keywords
- FALS, SOD1, familial, genetic testing, genetic counseling, ALS, C9ORF72, TARDBP
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 500 participants (estimated)
- Lead sponsor
- University of MiamiUniversity, hospital or other
- Collaborators
- ALS Association
- Study start
- Apr 2006
- Primary completion
- Dec 2037 (estimated)
- Study completion
- Dec 2037 (estimated)
- First posted
- 25 Apr 2006 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 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). |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Healthy individuals who harbor a mutation in a gene associated with ALS.
Key inclusion criteria (5 listed)
- 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)
Key exclusion criteria (2 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Risk Factors for Progression to familial ALS
Time frame: Years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Mar 2026.
- Derived from this study: PubMed 39192497Lee I, Garret MA, Wuu J, Harrington EA, Berry JD, Miller TM, Harms M, Benatar M, Shneider N. Body mass index is lower in asymptomatic C9orf72 expansion carriers but not in SOD1 pathogenic variant carriers compared to gene negatives. Amyotroph Lateral Scler Frontotemporal Degener. 2024 Nov;25(7-8):672-679. doi: 10.1080/21678421.2024.2396831. Epub 2024 Aug 27.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Michael G Benatar, MD, PhD. principal investigator
University of Miami
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Amyotrophic Lateral Sclerosis, run by University of Miami at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 20 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Anne-Laure M Grignon, MD (1-888-413-9315, fals@med.miami.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Risk Factors for Progression to familial ALS (time frame: Years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00317616, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 20 Mar 2026.