Amyotrophic Lateral Sclerosis (ALS) Families Project

Study Purpose:

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.

Study Status:




Study Type:


Type of Intervention:


Intervention Name:






Study Chair(s)/Principal Investigator(s):

Matthew Harms, MD, Columbia University ID:


Neals Affiliated?


Coordinating Center Contact Information

Columbia University

Elizabeth Harrington, MS, CGC / email hidden; JavaScript is required / 347-852-5315

New York, New York, 10032 United States

Full Study Summary:

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 Sponsor:

Columbia University

Estimated Enrollment:


Estimated Study Start Date:

09 / 11 / 2018

Estimated Study Completion Date:

09 / 01 / 2023

Posting Last Modified Date:

09 / 19 / 2022

Date Study Added to

03 / 06 / 2019

Minimum Age:

18 Years

Maximum Age:

105 Years

Inclusion Criteria:

- Men or women of any race or ethnicity aged 18 or older

- No symptoms of ALS or fronto-temporal dementia at enrollment

- Have a first degree relative who had an ALS-spectrum diagnosis with a confirmed ALS-spectrum gene mutation; or already have had genetic testing and have tested positive for an ALS-spectrum gene mutation.

- Willing to undergo genetic testing 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:

- Known HIV

- Known hepatitis B

- Known hepatitis C

Columbia University | Recruiting

Elizabeth Harrington, MS, CGC / 347-852-5315 / email hidden; JavaScript is required

New York, New York 10032
United States