Study of Unaffected Family Members at Risk for ALS to Understand Disease Onset and Progression

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.

Amyotrophic Lateral Sclerosis (ALS) Families Project