Amyotrophic Lateral Sclerosis (ALS) Families Project

Study Overview
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Brief Summary
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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
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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.

Official Title
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Amyotrophic Lateral Sclerosis (ALS) Families Project

Conditions
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ALS

Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 105 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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 or c) evidence of cognitive impairment on the ALS-Cognitive Behavioral Scale (ALS-CBS). | Up to 3 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Pre-symptomatic, Familial, FALS, Genetic testing, C9orf72, SOD1, TARDBP, FUS, VCP, PFN1