Poster at IEC 2025 Lisbon

by
IEC_2025Download

Empowering Patients in Research – First Insights from 444 Participants in the PATRE SYNGAP1 Registry

We are proud to share that our work on the PATRE SYNGAP1 Registry was presented at the International Epilepsy Congress (IEC) 2025 in Lisbon.

Our poster, presented by Kirsten Eschermann, was selected for the prestigious ILAE YES (Young Epilepsy Section) Poster Tour – Poster #363.

Why this matters

The PATRE SYNGAP1 Registry was created together with families, clinicians, and researchers as part of the EURAS Horizon Europe consortium. It is a multilingual, app-based platform that empowers families to directly contribute health information and experiences. This data helps researchers understand SYNGAP1-related encephalopathy and accelerates the path towards new therapies.

Key results from 444 SYNGAP1 participants

🔹 Developmental milestones are consistently delayed:

  • Sitting unsupported: ~12 months
  • Walking independently: ~28 months
  • First two-word sentences: ~47 months

🔹 Functional outcomes (PEDI-CAT):

  • Daily activities & Social/Cognitive: ~4th percentile
  • Mobility: ~12th percentile

🔹 HPO-based phenotyping (systematic clinical feature mapping):

  • High frequency of neurodevelopmental features (motor delay, speech delay, autistic behaviors)
  • Frequent epilepsy-related phenotypes (generalized motor & non-motor seizures, absence seizures, myoclonic-atonic seizures)
  • Behavioral and sensory features (hyperactivity, self-injury, abnormal pain sensation, sleep disturbance)
  • Comorbidities including vision problems, scoliosis, growth abnormalities

This comprehensive HPO dataset provides one of the most detailed phenotypic landscapes of SYNGAP1 to date, demonstrating the power of structured, patient-driven data collection.

Looking ahead

The PATRE platform is designed to be a model for rare epilepsies and neurodevelopmental disorders. By combining patient engagement with standardized data elements, we are building a resource that will:

  • Support preclinical models and therapeutic development
  • Enable international collaboration across research groups
  • Provide families with a stronger voice in research

Leave a Comment