Body mass index is lower in asymptomatic C9orf72 expansion carriers but not in SOD1 pathogenic variant carriers compared to gene negatives.
Ikjae Lee, Mark A Garret, Joanne Wuu...
https://pubmed.ncbi.nlm.nih.gov/39192497Actively Recruiting
Age: 18Years - 105Years
All Genders
ID03865420
Amyotrophic Lateral Sclerosis (ALS) Families Project
Led by Columbia University · Updated on 2026-01-07
300
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying individuals who have a family history of amyotrophic lateral sclerosis (ALS) or frontotemporal dementia (FTD), focusing on those who carry gene mutations linked to these diseases but do not yet show symptoms. This study aims to understand why motor neuron degeneration begins and how it progresses, with the goal of identifying early targets for treatment to slow or prevent disease onset and progression. The study is observational and involves following unaffected ALS gene mutation carriers over time to gather important information for developing new therapies. Participants in this study will undergo genetic counseling and testing to help them understand and manage their risk, with the choice to learn their genetic status. Research visits will take place every 6 to 24 months at Columbia University Irving Medical Center. The study includes individuals who either already know they carry an ALS-spectrum gene mutation or have a strong family history suggesting high risk. Participants have the option to undergo genetic analysis and decide if they want to receive the results. Throughout the study, participants will be followed annually or semi-annually to monitor the time to emergence of symptoms related to their gene mutations, up to 10 years. Researchers will collect data during these visits to observe any early signs of disease and better understand the progression. The study involves informed consent and regular follow-up visits, with participants or their authorized representatives able to consent and comply with study procedures. This long-term observation aims to support development of preventive and treatment strategies for ALS.
CONDITIONS
Brief Title
Amyotrophic Lateral Sclerosis (ALS) Families Project
Who Can Participate
Age: 18Years - 105Years
All Genders
Eligibility Criteria
You may qualify if you...
- Men or women aged 18 years or older
- No symptoms of ALS or frontotemporal dementia at enrollment
- Already had genetic testing showing an ALS-spectrum gene mutation, or
- Have a first-degree relative who is an obligate carrier of a familial ALS-spectrum gene mutation, or
- Have a first-degree relative diagnosed with ALS-spectrum disease with confirmed gene mutation or come from a family with a high burden of ALS-spectrum diagnoses and a known gene mutation, or
- Are considered at high risk for carrying an ALS-spectrum gene mutation after family and genetic review
- Willing to undergo genetic analysis with choice to learn results
- Willing to travel to Columbia University Irving Medical Center every 6 to 24 months for study visits
- Able to provide informed consent or have a legally authorized representative who can consent
You will not qualify if you...
- Known HIV infection
- Known hepatitis B infection
- Known hepatitis C infection
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Long-term Monitoring
Duration - Up to 10 years
Participants undergo research visits to monitor for early signs of ALS or frontotemporal dementia and investigate disease progression.
Visits every 6 to 12 months
Trial Site Locations
Total: 1 location
1
Columbia University
New York, New York, United States, 10032
Actively Recruiting
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Research Team
E
Elizabeth Harrington, MS, CGC
M
Matthew Harms, MD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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