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. Since 2014, ARC has collected data provided by participants all over the world, making it the longest-running natural history study in ALS. Data collected through the study informs our research at the ALS Therapy Development Institute (ALS TDI) and are shared with researchers throughout the ALS space through the ARC Data Commons. 

For most of its history, ARC participation has been limited to people with a confirmed or probable ALS diagnosis. However, thanks to a large expansion in the scope of the study in 2023, ARC has now been enrolling asymptomatic carriers for more than two years. Including these participants presents an opportunity to learn more about what causes ALS onset, identify potential diagnostic biomarkers, and better understand genetic – and possibly other forms – of ALS. Crucially, it also allows 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 that they occur in people with no family history of the disease, roughly 15% of cases appear to be connected to inherited genetic mutations. Researchers have identified several 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 carry a gene mutation but have not yet begun to exhibit ALS symptoms are referred to as asymptomatic gene carriers. 

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

Enrolling asymptomatic carriers in the ARC Study allows ALS TDI researchers to study several of the most pressing questions in ALS. We do not currently know what triggers the onset of ALS or why some people with ALS-related mutations take longer than others to begin experiencing symptoms. Because the ALS diagnosis process can take months or years, we also know little about the earliest stages of the disease. Enrolling asymptomatic 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 from 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 be able to evaluate full genomes in addition to the ALS-related mutations, which could lead to discoveries on how other genes might prevent or influence the onset of ALS.

By contributing these data, individuals with ALS-related gene mutations who choose to enroll in ARC will provide crucial information to advance ALS research – 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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