Sensitivity of Digital Clinical Biomarker Endpoints to Detect Disease Progression during the 8-week Pretreatment Run-In Period in Proof-of-Concept ALS Study VGCS-50635-002
Diego Cadavid1, Dina Katabi2, Ines Hoffman1, Payal Nanavati1, Anil Tarachandani1, Irene Choi1, Robert Scannevin1, Ashwin Swami1, Joanna Haas1, Martin Schmidt1, William Tracewell1, Paula Sandler1, Shane Raines1, Brian Shook1, Rumen Hristove2, Pranav Krishna2, Rachel Levy2, Hariharan Rahul2, Shichao Yue2, Hardik Kothare3, Michael Neumann3, Meredith Bartlett3, Vikram Ramanarayanan3, Philip Van Damme4, Pentti Tienari5, Eino Solje6, Manu Jokela7, Angela Genge8, Colleen O'Connell9, Ruben van Eijk10, Leonard Van den Berg11
1Verge Genomics, 2Emerald Innovations, 3Modality AI, 4UZ Leuven, 5Helsinki University Hospital, 6University of Eastern Finland, Brain Research Unit, 7Turku University Hospital, 8Mcgill University, 9Stan Cassidy Centre for Rehabilitation, 10Utrecht University Medical Center, TRICALS, 11University Medical Centre Utrecht
Objective:

To investigate the changes in molecular and clinical disease biomarkers during the 8-week pretreatment run-in period of the VRG50635 amyotrophic lateral sclerosis (ALS) proof-of-concept study.

Background:

There is an unmet need for disease-modifying ALS treatments that slow progression, extend survival, and improve quality of life. Verge Genomics’ CONVERGEâ artificial intelligence target discovery platform identified phosphatidylinositol 3-phosphate 5-kinase type III (PIKfyve)/FIG4 as an ALS drug target. VRG50635, aPIKfyve inhibitor, substantially reduces motor neuron death in vitro. Tolerability, emerging safety, and pharmacokinetics/pharmacodynamics support this first-in-ALS patient study.  

Design/Methods:

54 people with sporadic (N=37) or genetic (N=17), mostly limb-onset, ALS were enrolled in a 3-part within-subject, open-label dose escalation study (Part 1, 8-week pretreatment run-in; Part 2, 32-week within-patient dose escalation, up to 3 dose levels; Part 3, 40-week long-term extension period, highest tolerated dose). Here, we report novel biomarker sensitivity to disease progression during the 8-week run-in compared to traditional endpoints.

Results:

Results will be presented for clinical digital biomarkers being investigated for disease progression sensitivity during the 8-week pretreatment run-in using the 24/7 At-home Touchless Emerald sensor (turning in bed, gait speed, sleep efficiency, deep sleep percentage, breathing depression, breathing rate variability) and the Modality conversational assessment tool (word count, syllable count, speaking duration, canonical timing alignment). Little change has been observed for traditional endpoints in the pretreatment run-in over 8 weeks: slow vital capacity (SVC) (N=39; mean [SD], 3.7[1] and 3.5[1] liters), ALS Functional Rating Scale-Revised (ALS-FRS-R) (N=31; mean [SD], 37.5[3.3] and 35.9[5]), and plasma neurofilament light (NfL) (N=26; median [range], 72 [18-160] and 74 [20-192] pg/mL)].

Conclusions:

During the 8-week pretreatment run-in period, SVC, ALS-FRS-R, and plasma NfL are mostly stable at the individual and group levels. Results will be presented for novel digital clinical biomarkers assessing whether they can measure disease progression over the 8-week run-in period.

10.1212/WNL.0000000000208661
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