The ALS Therapy Development Institute’s (ALS TDI’s) ALS Research Collaborative (ARC) Study has been collecting a wealth of data from people with ALS since 2014, making it the longest-running natural history study in ALS. To help us learn more about the disease, ARC participants submit data including ALSFRS-r scores, surveys, voice recordings, and accelerometer measurements. To make sure the study is as accessible as possible, all of this can be done from the comfort of their homes. 

ARC’s In-Home Blood Collection Program

The ARC Study also collects blood samples, which provide critical biological data for ALS research at ALS TDI and beyond. To gather these samples while keeping ARC participation 100% remote, ALS TDI established a first-in-kind in-home blood collection program. 

Through this program, ARC participants living in a zip code served by our mobile phlebotomy partners are invited to contribute samples quarterly. As with all aspects of the ARC Study, participation in this aspect is completely optional. Eligible participants can choose whether to enroll and can discontinue at any time.

If they choose to participate, a phlebotomist will visit the participant’s home once every three months to conduct a blood draw. On the first visit, the phlebotomist collects seven tubes of blood, and six at each visit thereafter. This roughly equals 22-31mL of blood per phlebotomist visit. For reference, a typical donation for a blood bank is one pint, or about 470ml, of blood. 

The phlebotomist then sends these blood samples overnight to the ALS TDI lab in a secure, temperature-controlled package. Once they arrive, the blood samples are sent to several different areas of the lab, as well as to outside partners, for processing and analyses.

How Blood Sample Data Can Power ALS Discoveries

The In-Home Blood Collection program collects blood draws from about about 150-200 people living with ALS every year. Even one blood draw provides a wealth of data invaluable for many different aspects of ALS research. However, the more blood draws a participant is willing to undergo—each participant may undergo up to a maximum of six—the more impactful their data may become. 

Multiple blood draws provide longitudinal data—or data collected over time—with the power to unlock deeper insights into their disease. Longitudinal data allow researchers to look at how data from each blood draw changes over time. This could reveal, for example, levels of certain proteins that change as someone’s ALS progresses. Data like these are particularly important to the search for potential ALS biomarkers, one of the primary goals of ARC.  Reliable biomarkers for ALS represent an opportunity to better diagnose the disease and more accurately track disease progression – and could potentially serve as a more precise endpoint for human clinical trials.

How Your Blood Powers Research at ALS TDI

These samples power several different research projects at ALS TDI, such as:

  • Understanding the ALS genome:
    • One tube of blood from every participant’s first draw is processed at ALS TDI and sent to our partners at the Broad Institute for whole-genome sequencing—the analysis of the entire sequence of a person’s DNA. These data present an opportunity to learn how genetics influences ALS risk, onset, and disease progression. ALS TDI researchers are currently working with partners at Tufts University to analyze these data and identify new potential genetic risk factors and disease modifiers for ALS.
  • Learning more about neurofilament light chain (NFL):
    • NfL is one of the most well-known biomarkers for ALS, as well as other neurodegenerative diseases, but we still have much to learn about what it can tell us about individual cases of the disease. ALS TDI researchers have undertaken a multi-year study to learn more about how NfL behaves in different forms of ALS. By studying the levels of NfL in blood samples provided by ARC participants over time, we can learn more about this biomarker’s potential as a tool for tracking progression and evaluating treatments.
  • Searching for new ALS biomarkers:
    • In 2022, ALS TDI received a grant from the Department of Defense to begin analyzing the presence of more than 7500 proteins in ARC blood samples. Currently, our researchers are working with LifeArc, one of the United Kingdom’s leading charitable biomedical research organizations, to analyze these data and look for new potential blood-based biomarkers. This research has already yielded preliminary markers that could predict the rate of disease progression, paving the way for earlier diagnosis and improved treatment monitoring.
  • Cells for testing potential treatments and more:
    • ALS TDI’s Cell Biology Team relies on models of ALS-affected motor neurons to learn more about the disease and test potential treatments. While motor neurons can’t be extracted from the spinal cord or brain of a living person, they can be modeled in the lab using induced pluripotent stem cells (iPSCs). iPSCs are stem cells that can be reprogrammed from various kinds of cells in the body, and then “differentiated,” or coaxed to turn into any other kind of cell. Using cells taken from sources including ARC participants’ blood samples, ALS TDI scientists have created cellular models of ALS caused by SOD1, C9orf72, TDP43, and other mutations. We are also currently charecterizing cell models of sporadic ALS, which will soon be made made available to researchers globally through a partnership with Axol Biosciences. 
  • Generating data to power global ALS research:
    • All data generated by every blood draw—whole genome sequencing, RNA sequencing, proteomic analysis, and even basic labs like cholesterol, glucose, and bilirubin—are added to the ARC database. These datapoints are available along with other ARC data like surveys, voice recordings, accelerometer measurements, surveys, and electronic health records. This dataset is a powerful resource to support many different types of research, such as biomarker discovery, risk factor analysis, and searching for new drug targets. 
    • In addition to powering research at ALS TDI, these data are also shared with the global ALS research community through the ARC Data Commons. This innovative online data portal allows other researchers to benefit from the comprehensive data collected through ARC. This is central to ALS TDI’s mission to accelerate research to find effective treatments for everyone with ALS, in our lab and beyond.

“The blood samples donated by ARC participants are among the most powerful resources we have to study ALS. From genomic and proteomic analyses to biomarker discovery and cell model development, these samples fuel research both within ALS TDI and across the global ALS research community. We’re profoundly grateful to every participant whose contribution makes this work possible.”
— Fernando G. Vieira, M.D., CEO and Chief Scientific Officer, ALS Therapy Development Institute

To learn more about the ALS Research Collaborative and how your data can help power ALS research at ALS TDI and beyond, click here.

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