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Amyotrophic Lateral Sclerosis (ALS) Families Project

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ClinicalTrials.gov Identifier: NCT03865420
Recruitment Status : Recruiting
First Posted : March 6, 2019
Last Update Posted : September 19, 2022
Information provided by (Responsible Party):
Columbia University

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.

Condition or disease

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.

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Study Type : Observational
Estimated Enrollment : 60 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Amyotrophic Lateral Sclerosis (ALS) Families Project
Actual Study Start Date : September 11, 2018
Estimated Primary Completion Date : September 2023
Estimated Study Completion Date : September 2023

Primary Outcome Measures :
  1. 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).

Biospecimen Retention:   Samples With DNA
DNA, RNA, plasma, serum and Peripheral blood mononuclear cells (PBMCs)

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years to 105 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03865420

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

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United States, New York
Columbia University Recruiting
New York, New York, United States, 10032
Contact: Elizabeth Harrington, MS, CGC    347-852-5315    ALSFamiliesProject@cumc.columbia.edu   
Sponsors and Collaborators
Columbia University
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Principal Investigator: Matthew Harms, MD Columbia University
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Responsible Party: Columbia University
ClinicalTrials.gov Identifier: NCT03865420    
Other Study ID Numbers: AAAR7275
First Posted: March 6, 2019    Key Record Dates
Last Update Posted: September 19, 2022
Last Verified: September 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Columbia University:
Genetic testing
Additional relevant MeSH terms:
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Motor Neuron Disease
Amyotrophic Lateral Sclerosis
Neurodegenerative Diseases
Nervous System Diseases
Neuromuscular Diseases
Spinal Cord Diseases
Central Nervous System Diseases
TDP-43 Proteinopathies
Proteostasis Deficiencies
Metabolic Diseases