Non-invasive DHPS deficiency biomarkers

To be able to measure the activity of DHPS in patients, and confirm the efficacy of treatments in future clinical trials, we have established a collaboration with Binghamton University and NYU to develop a non-invasive biomarker for DHPS activity. This biomarker consists of measuring free hypusine in clinical urine samples by using LC-MS. Because hypusine can only be produced in the body through a two-step enzymatic process by DHPS and DOOH, levels of hypusine are direct reporters of DHPS activity. Dr. Yetrib Hathout, from the School of Pharmacy & Pharmaceutical Sciences at Binghamton University, is the leading investigator developing the analytical method for clinical urine hypusine measure. Dr. Orrin Devinsky, from NYU Langone Medical Center, is the clinical lead for this program. We hope to get clinical confirmation of this biomarker, including samples from patients and carriers, by end of 2024.