Recruiting

Observational StudyAmyotrophic Lateral Sclerosis (ALS) Families Project

Sponsor:

Columbia University

Code:

NCT03865420

Conditions

ALS

Eligibility Criteria

Sex: All

Age: 18 - 70+

Healthy Volunteers: Not accepted

Study Details

Brief 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. 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.

Conditions

ALS

Study ID

NCT03865420

Start date

Sep 11, 2018

Status verified date

Jan, 2026

Completion date

Jan, 2027

Anticipated

Primary completion date

Jan, 2027

Anticipated

Eligibility Criteria

Sex: All

Age: 18 - 70+

Healthy Volunteers: Not accepted

Inclusion Criteria:

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.
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

Study Design

Enrollment

300 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

Time to emergence of symptoms attributable to gene mutations [ Time Frame: Up to 10 years ]

Central Contacts and Locations

Central contacts

Elizabeth Harrington, MS, CGC

347-852-5315 ALSFamiliesProject@cumc.columbia.edu

Locations

Columbia University

Recruiting

New York, New York, United States, 10032

Contacts

Elizabeth Harrington, MS, CGC

347-852-5315 ALSFamiliesProject@cumc.columbia.edu

More Information

Sponsor

Columbia University

Last update posted

Jan 7, 2026

Last verified

Jan, 2026

Keywords

Pre-symptomatic
Familial
FALS
Genetic testing
C9orf72
SOD1
TARDBP
FUS
VCP
PFN1

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Columbia University on 2026-01-07.