Amyotrophic Lateral Sclerosis (ALS) Families Project
| Status: | Recruiting |
|---|---|
| Conditions: | Neurology, Neurology, ALS |
| Therapuetic Areas: | Neurology, Other |
| Healthy: | No |
| Age Range: | 18 - 105 |
| Updated: | 3/8/2019 |
| Start Date: | September 11, 2018 |
| End Date: | September 2022 |
| Contact: | Elizabeth Harrington, MS, CGC |
| Email: | eh2769@cumc.columbia.edu |
| Phone: | 347-852-5315 |
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.
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.
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
- 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
We found this trial at
1
site
116th St and Broadway
New York, New York 10027
New York, New York 10027
(212) 854-1754
Phone: 347-852-5315
Columbia University In 1897, the university moved from Forty-ninth Street and Madison Avenue, where it...
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