On October 4, 2024, ALS Therapy Development Institute (ALS TDI) scientists and leaders from across the ALS space gathered at the ALS TDI Summit in Boston, MA, to provide the community with updates on the progress of research. They were joined by an audience from across the ALS community, including people with ALS, families, advocates, researchers, pharmaceutical industry professionals, and many more who streamed the event online. This year’s event coincided with ALS TDI’s 25th Anniversary, and featured additional reflections on how far ALS research has come since our founding in 1999.

Here is a recap of what was shared at this year’s ALS TDI Summit!


ALS TDI Research Updates


ALS TDI’s Evolving Strategy to End ALS


Kicking off the day, Dr. Fernando Vieira, CEO and CSO of ALS TDI, delivered an overview of the institute’s evolving research strategy. He highlighted the remarkable discovery of numerous ALS-linked genes over the years, underscoring that ALS is not just one disease but a collection of conditions. This complexity demands a multi-faceted approach to treatment.


Dr. Vieira dove into the key challenges ALS researchers face today and how ALS TDI is tackling them head-on, utilizing cutting-edge technologies and strategic partnerships to explore groundbreaking paths in ALS research. He discussed how ALS TDI is focused on developing a range of targeted therapies – including small molecules, protein biologics, and advanced approaches like antisense oligonucleotides and mRNA therapies – reflecting their dynamic and forward-thinking approach to combating ALS.


25 Years of In Vivo ALS TDI Research: Past Achievements, Current Status, and Future Prospects


Next, ALS TDI’s Senior Director of Pharmacology Dr. Theo Hatzipetros, discussed how ALS TDI established itself as a leading institution in testing potential treatments in animal models of ALS, and how we are continuing to innovate with new models and techniques. Dr. Hatzipetros focused on new discoveries about ALS in humans that have helped researchers create better ALS animal models to more effectively test potential therapeutics. 

He also highlighted some of the ALS TDI Pharmacology team’s current research priorities, including expanding our portfolio of animal models, identifying new biomarkers, and working with the ALS TDI cell biology team to optimize our selection of candidates for in-vivo testing. 


Human Cell Biology Research at ALS TDI


Dr. Kyle Denton, ALS TDI’s Director of Cell Biology, presented the latest progress in the institute’s use of cellular models of ALS, including induced pluripotent stem cells (iPSCs), to test potential ALS treatments and learn more about the biology of the disease. This included a discussion of the teams’ experiments in cellular models of SOD1, C9orf72, TDP43, and sporadic ALS. 



Exploring Progress: The Evolution and Impact of the ALS Research Collaborative


Continuing the ALS TDI Research Updates, ALS TDI’s Senior Manager of Clinical Operations Alan Premasiri provided an update on the evolution and progress of this program, the longest-running natural history study in ALS, one year since its relaunch as the ALS Research Collaborative (ARC). 


Alan shared how ARC participant data is guiding drug discovery efforts at ALS TDI, fostering collaboration with outside researchers, and how ARC has continued to evolve as it incorporates new technologies that can help us better understand ALS. He also discussed how digital clinical outcome measures developed with ARC data could be used in clinical trials, providing new, accurate measures of participant’s disease progression. 



Panel Discussion


Following the morning session, Dr. Danielle Boyce, a renowned data scientist who recently joined ALS TDI as the Principal Investigator, Real World Evidence, moderated a panel featuring leaders from across the ALS space to talk about the latest progress in the field. They discussed topics including how our understanding of ALS has changed in the past 25 years, how collaboration and openness among different institutions has evolved in the ALS space, and the vital role that people with ALS have played in advancing ALS research. 


Speakers included:

  • Fernando Vieira, M.D.; CEO and Chief Scientific Officer, ALS Therapy Development Institute 
  • Sharon Hesterlee, Ph.D.; Chief Research Officer, Muscular Dystrophy Association
  • Paul Wright, Ph.D.; Head of Motor Neuron Disease, LifeArc
  • Bernie Zipprich; Founder, Zipprich Ventures LLC, ALS Association Board of Trustees Member, living with ALS
  • Moderator – Danielle Boyce, MPH, DPA; Faculty, Tufts University School of Medicine 


Afternoon Presentations


Following a brief lunch break, Summit attendees will hear presentations from renowned industry leaders who are shaping the future of ALS research.

Findings from a Major Study on Blood NfL Levels in People with ALS


Dr. Fernando Vieira returned to present findings from a major project undertaken by ALS TDI researchers in collaboration with Mitsubishi-Tanabe Pharma, studying neurofilament light chain (NfL) in people with ALS enrolled in the ARC study. NfL is one of the most well-researched biomarkers for neurodegenerative diseases, including ALS.


Dr. Vieira explained how this study aimed to better understand how NfL levels change in people with different ALS clinical characteristics, like fast progression of bulbar onset. He presented many findings, including data showing that people with ALS had significantly higher NFL levels than healthy individuals and asymptomatic carriers.

This research highlights the potential of neurofilament as a valuable tool for tracking ALS progression and evaluating the efficacy of treatments. However, more understanding is needed to account for the variability observed across individuals.


STARDUST-ALS: A Framework for Multimodal Data Integration and Evidence Generation in ALS Drug Development


Next, Dr. Danielle Boyce returned to discuss STARDUST-ALS, a new approach to capturing, managing, and analyzing “big data” in ALS natural history studies. When studying large, multimodal datasets, researchers face the challenge of varying data collection and organization practices. 


Comparing two datasets from large studies can often be difficult, time consuming, and costly due to the need to “harmonize” the data for analysis. With the STARDUST-ALS framework, Dr. Boyce presented a system of standardized practices that could allow for more streamlined collaboration between teams conducting different studies.



Global Neurodegeneration Proteomics Consortium:


Dr. Farhad Imam, MD, PhD, the Director of Health and Life Sciences at Gates Ventures, presented on the Global Neurodegeneration Proteomics Consortium (GNPC). GNPC is a global collaboration to advance the diagnosis and treatment of neurodegenerative conditions, including ALS. Dr. Imam shared that this effort represents the world’s largest biomarker discovery effort for neurodegenerative diseases, analyzing over 40,000 samples from 24 international research groups. 



Honoring the ALS Community


Following the day’s scientific presentations, ALS TDI’s Vice President of Development Carol Hamilton took the podium to announce this year’s Leadership Awards. These annual awards honor members of the ALS community who have gone above and beyond to support research and advocate for the needs of people with the disease.

This year’s Leadership Award winners included:

  • Alexander Heywood Award – Molly and Carson Wheeler, in recognition of these young sisters’ extraordinary efforts to raise funds and awareness for ALS research by hosting lemonade stands to support ALS TDI and Racing for ALS.
  • Stephen Milne Adventurous Spirit Award – John and Tracy Schinharl, in honor of their incredible achievements in community building and fundraising through the “Toledo Takes on ALS” event, which has raised over $520,000 for ALS research in just two years.
  • Mary Lou Krauseneck Courage & Love Award – Della Larsen, in honor of the hope and awareness she has spread by sharing her ALS journey through social media, particularly with her inspiring project to record herself reading books for her future grandchildren.
  • Fran Delaney Challenge & Respect Award – The Hopkins Family, in recognition of their incredible fundraising and advocacy efforts through the Hop on a Cure Foundation. Hop on a Cure was founded by John Driskell Hopkins, a songwriter, multi-instrumentalist, and member of the Zac Brown Band, and his wife, Jennifer, after he was diagnosed with ALS. His brother David Hopkins serves as the foundation’s Vice President of Community Investments. Since founding Hop on a Cure, they have reached millions of people and provided over $2 million in grants to a variety of ALS organizations.
  • Stephen Heywood Patients Today Award – Pat Dolan and Mike Ibarra, in recognition of their exemplary efforts to advocate for ALS research. Pat, a Geographic Information Systems (GIS) professional diagnosed with ALS in 2016, has utilized his expertise to create the ALS Geospatial Hub and collaborated on many research projects with institutions like ALS TDI and the CDC. Mike, a 31-year-old neurologist diagnosed with ALS in March 2023, has used his platform to educate the public, including other medical professionals, about ALS and share his journey as a young person living with the disease. 


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