GenieUs Genomics, in collaboration with Duke University School of Medicine and the Lewis Katz School of Medicine at Temple University, has announced the completion of enrollment in its Phase 2 clinical trial, ROAR-DiGAP, for amyotrophic lateral sclerosis (ALS). The trial focuses on precision health and patient stratification to advance personalized medicine in ALS research.
The ROAR-DiGAP trial enrolled 50 patients and is designed to evaluate the efficacy of personalized treatments based on individual genomic profiles. The trial utilizes DiGAP™, a bioinformatic platform developed by GenieUs, to stratify participants into four categories based on their Pathway Mutation Burden: neuroinflammation, oxidative stress, impaired autophagy & axonal transport, and mitochondrial dysfunction. Each category will receive an individualized treatment tailored to the specific pathway.
DiGAP™ Platform and Genomic Profiling
DiGAP™ aims to uncover genetic variants and signatures of ALS subtypes, potentially serving as digital genomic biomarkers of molecular drivers in individual patients. The study will also assess genomic biomarkers that distinguish therapy responders from non-responders. The trial employs advanced genomic sequencing technology—the PacBio Revio system and HiFi long-read sequencing—to identify genomic signatures that may be missed by other technologies.
Trial Design and Endpoints
Participants will be monitored over a nine-month period, with the Revised ALS Functional Rating Scale (ALSFRS-R) progression serving as a primary outcome measure. The study will also evaluate a panel of mechanistic biomarkers and neurofilament light chain measurements to assess treatment effects.
Enrollment began in June 2024, with rapid recruitment attributed to the study's inclusive and primarily virtual design, enhancing accessibility for a broader patient population.
Expert Perspectives
"A heartfelt thank you to the patients and families involved in our clinical program," said Dr. Sherie Ma, CEO of GenieUs Genomics. "The rapid enrollment reflects the significant unmet need for more effective, targeted therapies for ALS. We are making meaningful progress toward developing personalized treatments that could improve the lives of those living with ALS, and we look forward to receiving trial results by the second quarter of 2025. Through genomic profiling, DiGAP aims to further address the heterogeneity across ALS patients and contribute to further our understanding of the etiology of the disease."
Dr. Richard S. Bedlack MD, PhD, from Duke University School of Medicine, commented, "I am thrilled to combine the patient-centric features of my ROAR trials with the personalized medicine approach. The fast enrollment confirms that our patient-partners share in this excitement."
Dr. Terry Heiman-Patterson, MD, from the Lewis Katz School of Medicine at Temple University, added, "The personalized and patient centric approach that is reflected in the ROAR-DiGAP trial could form a model for future progress in ALS treatment development. It will ensure focused treatments and underscores the importance of patient stakeholder inclusion."
Jeff Eidel, Chief Commercial Officer at PacBio, stated, "We are thrilled to support this groundbreaking study and are excited to see the insights that will emerge from using PacBio's HiFi sequencing technology. The precision and comprehensive data our platform provides have proven invaluable in uncovering genetic signatures that can lead to more targeted and effective treatments for ALS."
