The mission of the ALS Research Collaborative (ARC) is to learn about ALS from people with ALS, and to use these data to accelerate research. ARC has collected over eight years of comprehensive data provided by participants all over the world. These data inform our research at the ALS Therapy Development Institute (ALS TDI) and are now shared with researchers throughout the ALS space through the ARC Data Commons. 

For most of this history, ARC has only been able to enroll people with a confirmed or probable ALS diagnosis. However, thanks to a large expansion in the scope of the study announced in June 2023, the ARC study is now enrolling a new, crucially important group – asymptomatic carriers of ALS-related genetic mutations. This represents an exciting new opportunity to learn more about what causes ALS onset, identify potential diagnostic biomarkers, and better understand genetic – and possibly other forms – of ALS. Most importantly, it presents an opportunity for an important part of the ALS community to participate in a global research effort, and to learn more about their own condition in the process.

What is an Asymptomatic Carrier? 

While most ALS cases are sporadic – meaning they occur in people with no family history of the disease – ~15% of cases appear to be connected to inherited genetic mutations. Researchers have identified a number of these mutations in recent decades in genes such as C9orf72, SOD1, FUS, and TDP-43. These mutations can be passed down from parent to child – causing multiple generations of families to be affected by ALS. Collectively, these types of ALS are often referred to as familial or genetic ALS.

People with a family history of the disease can find out if they carry these ALS-related mutations themselves through genetic testing. Those who do carry a gene mutation, but have not yet begun to demonstrate ALS symptoms, are referred to as asymptomatic gene carriers. Researchers do not know what triggers the onset of ALS , why some people with ALS-related mutations take longer than others to begin experiencing symptoms, or even if they will develop ALS at all.  

What Can We Learn from Asymptomatic Carriers – and What Can They Gain from ARC Participation?

Enrolling people with confirmed ALS-related genetic mutations in ARC will help provide new insights into how ALS manifests, and why it might affect one individual differently than another.

  • By observing how and when ALS symptoms begin in people with ALS-related genetic mutations, we can learn more about what genetic, environmental, or lifestyle factors might accelerate or delay ALS onset.
  • By contributing biological samples to ARC, asymptomatic participants could help us look for biological changes that occur during ALS onset and progression ­– presenting an opportunity to find new biomarkers to track progression or even diagnose the disease.
  • Additionally, researchers will have the ability to evaluate full genomes in addition to the ALS-related mutations, which could lead to new discoveries on how other genes might prevent or influence the onset of ALS.

By contributing these data, people with ALS-related gene mutations who choose to enroll in ARC will provide crucial information to move ALS research forward – research that could benefit future generations of people with both genetic and sporadic ALS. In addition to contributing to research, they will also be able to access the data they share through an easily accessible online dashboard. These data can be used to monitor their condition and be shared with their healthcare provider to help make decisions about their care.

How to Get Involved

Are you an asymptomatic gene carrier? If so, your data could be pivotal to unlocking the next breakthrough in ALS research. Join ARC today and help us move global ALS research forward: https://arc.als.net/

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