ORYZON to sponsor first Phelan-McDermid syndrome (PMS) burden of illness study

Oryzon Genomics S.A., (ISIN Code: ES0167733015, ORY), a clinical-stage biopharmaceutical company and a European leader in epigenetics, is proud to announce its participation as a sponsor of the first-ever Phelan-McDermid syndrome (PMS) burden of illness study. The study is led by CureShank, a research advocacy organization founded by families of individuals affected by PMS, whose mission is to accelerate the development of treatments for the disorder.

This study, recently launched, will collect data from families of individuals living with PMS, health insurance claims and insights from clinical experts, to help quantify the true economic impact of PMS, inform the development of new therapies, and guide future market access strategies.

Jordi Xaus, Oryzon’s Chief Scientific Office, said: “Consistent with Oryzon’s commitment to rare diseases, we are proud to support CureShank’s important initiative. This study not only evaluates the burden of Phelan-McDermid syndrome but also helps identify the key drivers of that burden - critical insights that can guide new interventions and accelerate the development of much-needed treatments to improve the quality-of-life to patients and their families”.

PMS is a highly disabling neurodevelopmental disorder caused by deletions or pathogenic mutations in the SHANK3 gene. It is characterized by varying degrees of developmental delay, intellectual disability, delayed or absent speech, and autism spectrum disorder (ASD) or symptoms of autism. Agitation and aggression are common and distressing behavioral symptoms of PMS, and significantly increase caregiver burden, risk of institutionalization, and make long-term community integration in adulthood problematic. Currently, there are no approved pharmacological treatments for PMS.

LSD1 inhibitors have been shown to “reset” neuronal transcription and reverse social-behavior and aggression phenotypes in several ASD genetic models, including shank3-deficient mice. Building on these findings, and on clinical results obtained with vafidemstat, Oryzon’s brain-penetrant, orally active LSD1 inhibitor, in the REIMAGINE Phase IIa proof-of-concept trial in ASD patients, the company is preparing a Phase II trial in individuals with PMS, planned to start in the coming months. This study, named HOPE-2, will evaluate the safety and efficacy of vafidemstat in PMS. HOPE-2 will be conducted in the European Union and will be partially financed by funds received under the EU IPCEI MED4CURE grant in 2025.