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.
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.
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:
- Known HIV
- Known hepatitis B
- Known hepatitis C