Amyotrophic Lateral Sclerosis (ALS) Families Project

• ClinicalTrials.gov Identifier: NCT03865420
• Recruitment Status: Recruiting
• First Posted: March 6, 2019
• Last Update Posted: October 12, 2020
• Sponsor: Columbia University
• Information provided by (Responsible Party): Columbia University

Tracking Information

• First Submitted Date: February 25, 2019
• First Posted Date: March 6, 2019
• Last Update Posted Date: October 12, 2020
• Actual Study Start Date: September 11, 2018
• Estimated Primary Completion Date: September 2021 (Final data collection date for primary outcome measure)

Current Primary Outcome Measures (submitted: March 5, 2019)

Time to emergence of symptoms attributable to gene mutations [ Time Frame: Up to 3 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 or c) evidence of cognitive impairment on the ALS-Cognitive Behavioral Scale (ALS-CBS).

• Original Primary Outcome Measures: Same as current
• Current Secondary Outcome Measures: Not Provided
• Original Secondary Outcome Measures: Not Provided
• Current Other Pre-specified Outcome Measures: Not Provided
• Original Other Pre-specified Outcome Measures: Not Provided

Descriptive Information

• Brief Title: Amyotrophic Lateral Sclerosis (ALS) Families Project
• Official Title: Amyotrophic Lateral Sclerosis (ALS) Families Project
• 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.

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 Type: Observational
• Study Design: Observational Model: Family-Based; Time Perspective: Prospective
• Target Follow-Up Duration: Not Provided

Biospecimen

Retention:   Samples With DNA

Description:

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

• 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.
• Condition: ALS
• Intervention: Not Provided
• Study Groups/Cohorts: Not Provided
• Publications *: Not Provided

Recruitment Information

• Recruitment Status: Recruiting
• Estimated Enrollment (submitted: March 5, 2019): 60
• Original Estimated Enrollment: Same as current
• Estimated Study Completion Date: September 2022
• Estimated Primary Completion Date: September 2021 (Final data collection date for primary outcome measure)

Eligibility Criteria

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

Sex/Gender

• Sexes Eligible for Study: All

• Ages: 18 Years to 105 Years (Adult, Older Adult)
• Accepts Healthy Volunteers: No

Contacts

Contact: Elizabeth Harrington, MS, CGC; 347-852-5315; ALSFamiliesProject@cumc.columbia.edu

Contact: Matthew Harms, MD

• Listed Location Countries: United States

Administrative Information

• NCT Number: NCT03865420
• Other Study ID Numbers: AAAR7275
• Has Data Monitoring Committee: No

U.S. FDA-regulated Product

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

IPD Sharing Statement

• Plan to Share IPD: No

• Responsible Party: Columbia University
• Study Sponsor: Columbia University
• Collaborators: Not Provided

Investigators

• Principal Investigator: Matthew Harms, MD; Columbia University

• PRS Account: Columbia University
• Verification Date: October 2020