ALSNCT03865420
Amyotrophic Lateral Sclerosis (ALS) Families Project
An observational study of ALS, run by Columbia University at 1 site in United States.
Trial summary
This program provides family members of individuals with familial ALS the opportunity to contribute to research focused on learning more about why motor neuron degeneration begins and how or why it progresses. Read more about this study
- Who is it for?
- Ages 18 to 105 years
- Conditions the study is for
- ALS
- How many people
- 300 participants
- Where
- 1 siteUnited States
- Study dates
- 11 Sep 2018to Jan 2027
- 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 to 105 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Unaffected individuals who have either a family member with a known ALS/FTD-associated gene mutation or have a strong family history of ALS and FTD.
Who may be able to join
- Men or women of any race or ethnicity aged 18 or older
- No symptoms of ALS or fronto-temporal dementia at enrollment
- Scenario 1: has already had genetic testing that identified an ALS-spectrum gene mutation.
- Scenario 2: has a first degree relative who was/is an obligate carrier of a familial ALS-spectrum gene mutation.
- Scenario 3: has a first degree relative who has/had an ALS-spectrum diagnosis who had a confirmed ALS-spectrum gene mutation or comes from a family with a high burden of ALS-spectrum diagnoses and a known ALS-spectrum gene mutation.
- Scenario 4: is deemed to be at high risk for carrying an ALS-spectrum gene mutation as judged by a review of the family structure and genetic information by the study team.
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- Willing to undergo genetic analysis, with option of whether or not to learn results
- Willing to travel to Columbia University Irving Medical Center (CUIMC) every 6-24 months for study procedures
- Capable of providing informed consent and following study procedures, or has a legally authorized representative who is able to consent for the subject.
- Exclusion Criteria for participation in biosample portion of the study:
- Known HIV
- Known hepatitis B
- Known hepatitis C
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Matthew Harms, MD contact
United States1 site, 1 recruiting
- Recruiting
Columbia University
New York, New York, 10032
Elizabeth Harrington, MS, CGC, 347-852-5315, ALSFamiliesProject@cumc.columbia.edu
About this study
This program provides family members of individuals with familial ALS the opportunity to contribute to research focused on learning more about why motor neuron degeneration begins and how or why it progresses. This study provides genetic counseling and testing to help participants understand and manage their risk and determine if they want to learn their genetic status. This study will follow unaffected ALS gene mutation carriers on an annual basis to gather essential information that will ultimately help researchers develop novel therapies for the prevention and treatment of ALS.
Read the detailed description
Approximately 10% of people with amyotrophic lateral sclerosis (ALS), or Lou Gehrig's Disease, have a family history of ALS or a related condition called frontotemporal dementia (FTD). In most of these familial cases, and a significant number of "sporadic" patients with no family history, a mutation is present in one of a growing number of genes that have been associated with ALS and/or FTD.
The ALS Families Project will study unaffected carriers of ALS/FTD-associated gene mutations to investigate the first steps in the disease process that leads to motor neuron degeneration, with the goal of identifying early disease targets and points of intervention to slow or stop disease onset and progression.
Unaffected individuals who have either a family member with a known ALS/FTD-associated gene mutation or have a strong family history of ALS and FTD are invited to participate in the ALS Families Project. For those who enroll, research visits will occur every 6-12 months.
- Conditions
- ALS
- Keywords
- Pre-symptomatic, Familial, FALS, Genetic testing, C9orf72, SOD1, TARDBP, FUS, VCP, PFN1
- Medical subject headings
- Frontotemporal Dementia With Motor Neuron Disease
What is being measured
The primary outcome is the main question the study is designed to answer.
Time to emergence of symptoms attributable to gene mutations
Emergence of symptoms will defined by the development of any of the following: a) any weakness on neurological examination, b) evidence of nerve loss on electromyography (EMG)-nerve conduction studies, or c) evidence of cognitive impairment on the ECAS or ALS-Cognitive Behavioral Scale (ALS-CBS).
Measured: Up to 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Mar 2019
- Study start11 Sep 2018
- Primary completionJan 2027 (estimated)
- Study completionJan 2027 (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 ALSStudies of the same condition, open and under way.
- More trials run by Columbia UniversityThe 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
- Family based
- Time perspective
- Prospective
- Enrolment
- 300 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Columbia University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Matthew Harms, MD, Principal investigator, Columbia University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03865420
- Sponsor's protocol ID
- AAAR7275
- Status last verified
- Jan 2026
- First submitted
- 25 Feb 2019
- Last updated
- 7 Jan 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 7 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Amyotrophic Lateral Sclerosis (ALS) Families Project
- ClinicalTrials.gov ID
- NCT03865420
- Acronym / sponsor ID
- AAAR7275
- Conditions
- ALS
- Keywords
- Pre-symptomatic, Familial, FALS, Genetic testing, C9orf72, SOD1, TARDBP, FUS
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- Columbia UniversityUniversity, hospital or other
- Study start
- 11 Sep 2018 (actual)
- Primary completion
- Jan 2027 (estimated)
- Study completion
- Jan 2027 (estimated)
- First posted
- 6 Mar 2019 (actual)
- 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.
This program provides family members of individuals with familial ALS the opportunity to contribute to research focused on learning more about why motor neuron degeneration begins and how or why it progresses. This study provides genetic counseling and testing to help participants understand and manage their risk and determine if they want to learn their genetic status. This study will follow unaffected ALS gene mutation carriers on an annual basis to gather essential information that will ultimately help researchers develop novel therapies for the prevention and treatment of ALS.
Detailed description
Approximately 10% of people with amyotrophic lateral sclerosis (ALS), or Lou Gehrig's Disease, have a family history of ALS or a related condition called frontotemporal dementia (FTD). In most of these familial cases, and a significant number of "sporadic" patients with no family history, a mutation is present in one of a growing number of genes that have been associated with ALS and/or FTD.
The ALS Families Project will study unaffected carriers of ALS/FTD-associated gene mutations to investigate the first steps in the disease process that leads to motor neuron degeneration, with the goal of identifying early disease targets and points of intervention to slow or stop disease onset and progression.
Unaffected individuals who have either a family member with a known ALS/FTD-associated gene mutation or have a strong family history of ALS and FTD are invited to participate in the ALS Families Project. For those who enroll, research visits will occur every 6-12 months.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 to 105 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Unaffected individuals who have either a family member with a known ALS/FTD-associated gene mutation or have a strong family history of ALS and FTD.
Key inclusion criteria (13 listed)
- Men or women of any race or ethnicity aged 18 or older
- No symptoms of ALS or fronto-temporal dementia at enrollment
- Scenario 1: has already had genetic testing that identified an ALS-spectrum gene mutation.
- Scenario 2: has a first degree relative who was/is an obligate carrier of a familial ALS-spectrum gene mutation.
- Scenario 3: has a first degree relative who has/had an ALS-spectrum diagnosis who had a confirmed ALS-spectrum gene mutation or comes from a family with a high burden of ALS-spectrum diagnoses and a known ALS-spectrum gene mutation.
Key exclusion criteria (0 listed)
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
Time to emergence of symptoms attributable to gene mutations
Time frame: Up to 10 years
Emergence of symptoms will defined by the development of any of the following: a) any weakness on neurological examination, b) evidence of nerve loss on electromyography (EMG)-nerve conduction studies, or c) evidence of cognitive impairment on the ECAS or ALS-Cognitive Behavioral Scale (ALS-CBS).
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 7 Jan 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.
Matthew Harms, MD contact
Matthew Harms, MD principal investigator
Columbia University
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 ALS, run by Columbia University 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 13 inclusion and 0 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 7 Jan 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 Elizabeth Harrington, MS, CGC (347-852-5315, ALSFamiliesProject@cumc.columbia.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Time to emergence of symptoms attributable to gene mutations (time frame: Up to 10 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 NCT03865420, 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 7 Jan 2026; AzTrials last refreshed its copy on 6 Nov 2026.