News Brief

Medidata and Project ALS Present Research on Using Proteomics to Advance Rare Disease Diagnostics

Medidata, a Dassault Systèmes company, joined Project ALS, academic and medical researchers at the University of Pennsylvania, Castleman Disease Collaborative Network (CDCN), Massachusetts General Hospital, Columbia University, and Somalogic, Inc to present research at the Northeast ALS Consortium (NEALS). The study findings may help inform diagnosis of ALS and other rare diseases.

ALS (amyotrophic lateral sclerosis) is a rare and progressive neurodegenerative disease that impacts body systems at different rates, depending on the affected neurons. When ALS-like symptoms first appear, other disorders that may mimic ALS should be ruled out to avoid misdiagnosis because an estimated 10% of cases are false positives. Depending on a multitude of factors, accurate diagnosis of ALS may take up to a year; and patients, and physicians want to be certain before declaring or ruling out this life-changing disease.

Furthermore, subsets of ALS are important to distinguish. For example, limb-onset ALS is associated with longer time-to-diagnosis compared to bulbar (speech, swallowing)-onset ALS, and bulbar-onset is reported to have a faster rate of progression than limb-onset. There is a need to explore diagnostic and prognostic biomarkers that are specific to site of onset so that ALS patients may receive accurate clinical management and be included in the appropriate clinical trials.

This collaborative research, titled, "CA3 levels in plasma associate strongly with site of onset in Amyotrophic Lateral Sclerosis (ALS), investigates using proteomic biomarkers to better understand these diagnostic mechanisms. Carbonic anhydrase 3 (CA3), a skeletal muscle-specific enzyme highly expressed in neuromuscular diseases, was the only blood plasma marker detected that differentiates among sites of onset in ALS.

“Medidata Acorn AI provided a unified data platform for both proteomic and clinical data, and analyzed these data to uncover proteomic subtypes associated with ALS’ sites of onset.” said Sheila Diamond, MS, CGC, digital health strategist at Medidata. “This research highlights the clinical utility of integrating multiple sources of data and the importance of cross-collaboration to provide insights into rare disease diagnostic processes, and, in turn, may assist patients, families, and clinicians in planning for care.”

These findings illustrate that a greater understanding of omics-based diagnostics focusing on the limb and non-bulbar subtypes may better inform ALS diagnosis, and that plasma CA3 analysis may be a useful addition to the diagnostic armamentarium for limb-onset ALS.

Diamond and other researchers also presented their work on rare diseases at the Medidata NEXT Global conference. CDCN’s co-founder and executive director David Fajgenbaum, MD, MBA, MSc and Project ALS’ co-founder and director of research, Valerie Estess, and director of research operations, Erin Fleming, discussed drug repurposing strategies and challenges, along with leveraging real-world data and advanced analytics to build a comprehensive view of the patient story in rare diseases.

“This study demonstrates the power of collaboration and data science to reveal insights that impact patients’ lives. As a patient with a rare disease and the brother-in-law of an ALS patient, I know that research gives us the greatest chance for advancing treatments and improving survival. But none of us can do this alone,” Fajgenbaum said.

Fleming added: “This research partnership allowed us to analyze a dataset that was generated years ago, but using the newest technologies and methodologies on Medidata's platform. And from this, we were able to generate important insights and identify a biomarker that may help predict one form of ALS over other forms. Project ALS is proud to participate in this multidisciplinary research effort bringing together leading academic researchers with Medidata’s cutting-edge technology toward understanding, and successfully treating ALS.”

For more information, contact Paul Oestreicher, external communications director at