ALS Champion Insights
Amyotrophic lateral sclerosis (ALS) is a progressive, fatal neurodegenerative disease for which the underlying causes remain poorly understood, particularly in sporadic cases. Evidence suggests that certain populations, including military veterans, elite athletes, and first responders such as firefighters, may have an elevated risk of developing ALS. However, the genetic, environmental, and biological factors contributing to this increased risk remain unclear. Champion Insights is a collaborative research initiative led by Answer ALS and Augie’s Quest to Cure ALS, with research operations directed by the ALS Therapy Development Institute (ALS TDI), designed to investigate these factors and uncover new insights into ALS disease mechanisms. Building on ALS TDI’s ALS Research Collaborative (ARC) Study, Champion Insights will collect comprehensive clinical and biological data from individuals with ALS in these higher-risk populations, including blood samples for genetic and molecular analyses, detailed histories of occupational and physical activity exposures, health and lifestyle questionnaires, and digital measures of disease progression. By comparing these data with the broader ALS population represented in the ARC Study, researchers aim to identify potential genetic and environmental risk factors, biomarkers, and biological pathways that contribute to disease development. The Muscular Dystrophy Association (MDA) is supporting this initiative through a $200,000 grant to help ensure meaningful representation of firefighters, building on MDA’s longstanding partnership with the International Association of Fire Fighters. Ultimately, this work has the potential to improve understanding of ALS risk and disease biology, identify new therapeutic targets, and inform future strategies for earlier detection, prevention, and treatment that could benefit the broader ALS community.
Funded in collaboration with Augie’s Quest to Cure ALS (Augie’s Quest), Answer ALS, and ALS Therapy Development Institute (ALS-TDI)
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Grantee: Fernando Vieira, M.D.
Grant type: Research Grant
Award total: $200,000
Institution: ALS Therapy Development Institute
Country: USA
Minimally Disruptive Modeling of ALS-Linked Proteinopathies
This project creates a minimally disruptive way to visualize how ALS-related proteins behave in living cells. Unlike traditional fluorescent tags that can alter protein structure, this precise labeling method preserves natural function and enables real-time tracking of protein dynamics under stress or treatment. The resulting cell models will reveal molecular changes with high accuracy, advancing understanding of ALS mechanisms and aiding future therapeutic development.
Grantee: Jeffrey Rothstein, MD, PhD
Grant type: Restricted Research Grant
Award total: $131,535.00
Institution: Johns Hopkins University School of Medicine
Country: USA
Longitudinal Remote Assessment in Myotonic Dystrophy Type 1
Myotonic dystrophy type 1 (DM1) is a rare disease affecting ~140,000 people in the US. However, only a fraction of the DM community can participate in research. Barriers to participation in on-site research study visits include geographic dispersion with long distances to DM centers, or limitations related to mobility, caregiver responsibilities, or socioeconomic factors. Remote study visits, including connection with participants via video conferencing and Quantified assessments of strength and function using a toolkit with devices, are feasible and reliable in DM1, providing an opportunity to overcome barriers to research participation. In this proposal, we will assess the feasibility of tracking symptoms and function over time by connecting with participants one year after their initial remote study visit. If successful, this approach may be used in the future to measure the long-term effects of newly approved drugs at a lower cost and with less participant burden.
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Grantee: Johannna Hamel, M.D.
Grant type: Restricted Research Grant
Award total: $69,811.00
Institution: University of Rochester
Country: USA
Clinical Research in ALS: CRiALS
There is an enormous need for a better understanding of the clinical, demographic, and genetic features that underlie the phenotypic variability of ALS. Indeed, it may be more accurate to define ALS as a “syndrome” defined by the commonality of clinical features and progression. The syndrome of ALS may encompass a number disease mechanisms that will require different approaches for therapeutic intervention, and one could hypothesize that our failures in clinical trials for ALS are due to the inclusion of multiple disease types, some of which are not responsive to the experimental drug under investigation. Thus, we need to better understand whether multiple mechanisms of ALS truly exist, and to do that we need to better define the disease by documenting phenotypes along with genetic, serologic, and physiological features of disease. This improved categorization of disease will result in the definition of specific disease features that will allow for clinical trials targeting specific disease mechanisms. The CRiALS project, supported by MDA funding, has generated a world-class clinical database and biobank for use locally, nationally, and internationally for discovery research focused on better defining the mechanisms of ALS, which will lead to drug targets and directed therapeutics.
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Grantee: Jonathan Glass, M.D.
Grant type: Restricted Research Grant
Award total: $136,262
Institution: Emory University
Country: USA
Characterization of ANO5 variant expression and localization in skeletal muscle
Limb girdle muscular dystrophy type 2L (LGMD2L) is a recessive, slowly progressive neuromuscular disorder caused by loss-of-function mutations in the ANO5 gene (also known as TMEM16E). Patients exhibit highly variable presentation, from asymptomatic elevations in serum creatine kinase to marked upper and lower limb weakness. Despite being one of the most common LGMDs, LGMD2L remains without a disease modifying therapy. One critical gap is a clear understanding of ANO5 function and distribution in mature muscle fibers. Cell and murine models support a role for ANO5 in intracellular calcium homeostasis and plasma membrane repair, but clear definition of where this protein resides in highly structured fibers remains unclear. In this study we will develop adeno-associated viruses encoding proteins arising from two dominant ANO5 transcripts to define their relative localization in mature muscle. This work will add to our understanding of physiological ANO5 function and lay the groundwork for gene replacement therapies for severely affected individuals.
This grant is sponsored by a generous donation from Tom Meurer.
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Grantee: Ellie Carrell, PhD
Grant type: Idea Award
Award total: $50,000
Institution: Virginia Commonwealth University
Country: USA
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