Amyotrophic Lateral Sclerosis (ALS) Families Project

NCT03865420 | Recruiting

• 1 other identifier: AAAR7275
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

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

Keywords

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

Outcome Measures

Primary Outcomes (1)

• 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).

  Up to 10 years

Eligibility Criteria

• Age: 18 Years - 105 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

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.

You may qualify if:

• 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.

You may not qualify if:

• Known HIV
• Known hepatitis B
• Known hepatitis C

Sponsors & Collaborators

• Columbia University: lead

Study Sites (1)

Columbia University

New York, New York, 10032, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

DNA, RNA, spinal fluid, plasma, serum and Peripheral blood mononuclear cells (PBMCs)

MeSH Terms

Conditions

Frontotemporal Dementia With Motor Neuron Disease

Study Officials

• Matthew Harms, MD

  Columbia University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Elizabeth Harrington, MS, CGC

CONTACT

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

Matthew Harms, MD

CONTACT

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 25, 2019
• First Posted: March 6, 2019
• Study Start: September 11, 2018
• Primary Completion (Estimated): January 1, 2027
• Study Completion (Estimated): January 1, 2027
• Last Updated: January 7, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)