The ALS Association

ALS Ice Bucket Challenge Progress

The ALS Association Funds Biomarker Development and Validation Projects

June 3, 2015

The ALS Association is pleased to announce the awarding of $1.4 million of new funding to advance the discovery of biomarkers that correlate with important clinical and pathological aspects of ALS disease progression. This funding will be paired with a $539,000 match donation intended for research.

The awards will fund three projects, each of which focuses on the discovery of biomarkers in ALS. Support for these projects is part of the biomarker discovery initiative identified in The Association’s strategic plan and aligns with other efforts already undertaken, including ALS ACT, a novel academic-foundation-industry partnership that is developing neuroimaging tools as potential biomarkers for ALS progression; expanding the Northeast ALS Consortium (NEALS) biorepository; and supporting new phase IIA pilot clinical trials using biomarkers. Together, these projects will significantly advance the ability to identify and track key aspects of disease progression, and hence speed clinical trials.

A biomarker is a measurable quantity that can be used to diagnose disease, track progression, or monitor response to therapy. The goal of biomarker discovery is to find changes in various measures through imaging of the brain and spinal cord or changes in muscle strength, blood, or cerebrospinal fluid (CSF) that predict disease or change as disease progresses as a result of a therapeutic intervention. The change seen in the fluid could then be used to indicate new therapeutic targets or in a clinical trial to track progression more rapidly as opposed to the current qualitative clinical measures used.

“Biomarkers that can determine risk, improve diagnosis, track disease progression and confirm drug engagement with the intended target are critical for accelerating the search for treatments,” said Lucie Bruijn, Ph.D., M.B.A., Chief Scientist for The ALS Association. “As objective measurements of disease, biomarkers allow clinical trials to be smaller and shorter, enabling a more rapid evaluation of potential therapies.”

In other areas of medicine, biomarkers have greatly accelerated the discovery of new treatments. Several efforts are already underway to identify and validate biomarkers for ALS. These efforts will be significantly enhanced by increased investment to improve sample collections with detailed clinical phenotyping and forms the initial foundation for the development of an ALS Biomarker Consortium.

The Consortium will include all interested and willing stakeholders that may participate with equal opportunity to contribute to the broader mission of biomarker development and validation with associated deep phenotyping. Such an organized structure will attract industry partners and funding opportunities from the National Institute of Neurological Disorders and Stroke (NINDS). This consortium effort will build on experiences from the Michael J. Fox Foundation and NINDS.

Three new projects funded by The ALS Association are:

Expansion of NEALS Biorepository at Barrow Neurological Institute, Phoenix AZ and Deep Phenotyping.

This project will carry out a longitudinal collection of blood and CSF from 150 people with ALS over the course of their disease. At the same time, detailed clinical measurements will be made of respiratory function, cognitive function, muscle strength, and other aspects of the disease. The fluids and clinical data will be stored in the NEALS biorepository and be made available for biomarker discovery research. The NEALS biorepository is a major site for storage, curation, and research on ALS biosamples. This project will be led by Jeremey Shefner, M.D., Ph.D., Robert Bowser, Ph.D., and Shafeeq Lahda, M.D., of Barrow Neurological Institute in Phoenix, Arizona. This research project is also supported by a generous matching gift from Mary Lou and Ira Fulton.

Biomarker Validation Study

This study will attempt to provide a validation of a proteomic signature of ALS in the CSF of 300 people with the disease. Recent research has indicated that the ratio of two CSF proteins, neurofilament heavy chain and complement C3, is altered in people with ALS. This altered ratio may serve as a diagnostic biomarker. “The diagnosis of ALS is currently made using clinical measures that typically occur over multiple visits to a neuromuscular specialist,” noted Dr. Bruijn, and typically takes up to one year from symptom onset. Earlier patient diagnosis would permit enrollment in clinical trials at an earlier stage of disease, which will help in the search for more effective drug treatments.”

The study is being undertaken by Andreas Jeromin, Ph.D., and Robert Bowser, Ph.D., of Iron Horse Diagnostics of Scottsdale, AZ, and is being co-funded by the National Institutes of Health. The validation study will build on previous results showing that the ratio provides 92 percent sensitivity and 94 percent specificity for presence of ALS. Iron Horse will further validate these tests and perform both a prospective clinical study and assay qualification within a commercially certified (CLIA) laboratory to commercialize the diagnostic tests. Validation of the biomarker would allow further development and, ultimately, the first commercially available clinical test for presence of ALS.

Biosample Collection for CReATe

This collection will support the growth and expansion of a biorepository for a newly funded National Institute of Health Rare Diseases Clinical Research Consortium, the Clinical Research in ALS and Related Disorders for Therapeutic Development Consortium (CReATe). CReATe will bring together biochemists, geneticists, clinicians, Pharma, and partner groups involved in patient education and advocacy including THE ALS Association, Muscular Dystrophy Association, ALS Recovery Fund, Association for Frontotemporal Degeneration, Spastic Paraplegia Foundation, PatientsLikeMe, and the National ALS Registry. The successful completion of the CReATe Consortium objectives will lay the necessary foundation for future trials in genetically homogeneous patient populations (including, for example, patients with C9orf72 repeat expansions), thereby advancing science towards development of effective therapies for patients afflicted with these devastating degenerative disorders. As part of this initiative The ALS Association will support the enhancement of a repository of biosamples collected longitudinally with deep phenotyping of approximately 700 people with ALS. This effort, led by Michael Benatar, M.D., Ph.D., of the University of Miami, will combine detailed clinical data with biosample analysis to search for biomarkers that correlate with clinical characteristics, including patterns of disease spread and the rate of disease progression. Funding by The ALS Association will allow more extensive samples to be collected, stored, and shared with the ALS research community. More information on The ALS Association’s support of the CReATe Consortium and the biomarker development/validation request for applications, visit

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