Amyotrophic Lateral Sclerosis (ALS) Families Project

Recruiting

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.

Recruitment & Eligibility

Inclusion Criteria

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.

Exclusion Criteria for participation in biosample portion of the study:

Primary Outcome Measures

Name	Time	Method
Time to emergence of symptoms attributable to gene mutations	Up to 10 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 c) evidence of cognitive impairment on the ECAS or ALS-Cognitive Behavioral Scale (ALS-CBS).

Secondary Outcome Measures

Name	Time	Method