PATRE

31/08/2025

🌍 International Epilepsy Congress 2025, Lisbon – Empowering Patients in Research: First insights from the PATRE SYNGAP1 Registry

🙏 A big thank you to all participating families and patients!

Today we had the privilege to present our work at the International Epilepsy Congress in Lisbon:
🖼️ Poster #363 – Empowering Patients in Research: First insights from 444 participants in the PATRE SYNGAP1 Registry

🌍 With already 444 participants worldwide, the PATRE Registry provides a unique view on development, epilepsy, behavior, and comorbidities in SYNGAP1.
📊 We are especially proud of the systematic HPO-based data collection – one of the most detailed phenotypic landscapes of SYNGAP1 to date.

✨ Our work was selected by the ILAE Young Epilepsy Section (YES) for the Poster Tour – a great recognition of the joint effort of families, clinicians, and researchers.

A big thank you to:

- All participating families & patients ❤️

- The SYNGAP1 patient organizations worldwide SYNGAP Elternhilfe e.V. Syngap España Syngap Global Network (SGN) Syngap1 Argentina SynGAP Research Fund (SRF) for SYNGAP1-Related Disorders for their tireless support

- Our partners in the EURAS Project Horizon Europe consortium

📌 Poster & impressions from the congress attached!

EURAS League Against Epilepsy

More details: www.patre.info

18/07/2025

🌊✨ Thank you, Turku! ✨⛴️

A big thank you to Michael Courtney and the entire team at the Turku Bioscience for the outstanding organization of this year’s EURAS Project Annual Consortium Meeting 🇫🇮.
From the delicious multi-course welcoming dinner to the cruise on a boat to Naantali – everything was perfect. 🌅⛴️

The past two days were packed with insightful presentations, forward-looking ideas, and collaborative spirit.

A big thank you to all our EURAS Project partners for the fruitful discussions and your dedication to advancing translational research in rare neurodevelopmental disorders 🧠🧬

Syngap Global Network Syngap Elternhilfe e.V.

11/07/2025

🏆 Vielen Dank für diese schöne Würdigung!

Wir freuen uns sehr über den heutigen Beitrag der Paracelsus Medizinischen Privatuniversität (PMU) zu unserem gemeinsamen Erfolg beim EACD / IAACD Heidelberg 2025 – und möchten uns ganz herzlich bedanken:

🔹 bei der Paracelsus Medizinische Privatuniversität für die Unterstützung unserer Forschung
🔹 bei allen Mitautor:innen und Kolleg:innen, die zu dieser Arbeit beigetragen haben Minimann's Leben mit Syngap Syndrom
🔹 bei der Syngap Elternhilfe e.V. für unermüdliche Unterstützung und Engagement
🔹 beim unseren Partnern aus dem EURAS Project
🔹 und ganz besonders bei den SYNGAP1-Familien, deren aktive Teilnahme und Vertrauen dieses Projekt überhaupt erst möglich machen Syngap Global Network

Diese Auszeichnung steht für eine echte Teamleistung – und für das Potenzial von partizipativer Forschung bei seltenen Erkrankungen.

🔷 Best Abstract Award 2025 🔷 Beim weltweit größten interdisziplinären Kongress für Childhood Disability – der gemeinsamen Tagung der European Academy of Childhood Disability (EACD) und der International Alliance of Academies of Childhood Disability (IAACD) – wurde ein Abstract von Kirsten Eschermann und Lorenz Kiwull (PMU) mit dem Mac Keith Press Best Abstract Award 2025 ausgezeichnet. 🏆👏

Die prämierte Arbeit trägt den Titel:
„Empowering Patients in Research: Insights from the World’s Largest SYNGAP1 Registry“ und beschreibt die innovative Beteiligung von Patient*innen an der Forschung an einer seltenen genetischen Epilepsie und Entwicklungsstörung. Die Arbeit ist Teil des von der PMU mitinitiierten EURAS-Projekts.
Insgesamt konkurrierten über 1.200 Beiträge aus mehr als 80 Ländern.

✍️Weitere Mitautor*innen:
Verena Schmeder, Marcos Mengual Hinojosa (SYNGAP Elterhilfe e.V.),
Gerhard Kluger, Celina von Stülpnagel, Daniel Weghuber (PMU Salzburg),
und Martin Zenker (OVGU Magdeburg).

👩🔬🧑🔬 Der Award würdigt die wissenschaftliche Originalität, klinische Relevanz und methodische Exzellenz – und unterstreicht die internationale Sichtbarkeit der Forschung an der PMU.

10/07/2025

A 📕book recommendation from our cooperation partner 👇

Exciting news! Dr. Thiele and Lauren Seeley Aguirre have spent the last several months writing a book called Epilepsy For Dummies. Barnes & Noble is running a 25% off campaign for members for all pre-orders, including this book. The sale goes through Friday, July 11th. If you would like to pre-order, use the code PREORDER25 at checkout.

Promotion Details:
25% OFF all pre-orders for Barnes & Noble Members
Premium Members get an ADDITIONAL 10% off print book pre-orders
Includes ALL formats: print books, eBooks, and audiobooks
Coupon code: PREORDER25
Anyone can join the free B&N Rewards program instantly with just an email address at barnesandnoble.com/membership

10/07/2025

🎉 PATRE turns 5! EURAS turns 2! 🎉
✨ A double anniversary for the SYNGAP1 community! ✨

🔹 427 SYNGAP1 patients now registered!
Thank you to every family, clinician, and supporter who made this international milestone possible. Your participation is changing the future of rare disease research!

🧬 What is PATRE?
PATRE stands for
PATient-based phenotyping and evaluation of therapy for Rare Epilepsies

PATRE is a patient-driven SYNGAP1 registry and natural history study, collecting real-world data to advance research, improve diagnosis, and prepare for clinical trials in close cooperation with EURAS Project

🌍 Why does it matter?
Large SYNGAP1 patient cohort in Europe
Cross-border collaboration
Patient empowerment at every step
Direct impact on future therapies and clinical trials

📢 New! Study Brochure now available
Today, we proudly launch the brand-new SYNGAP1 study brochure — easy to read, easy to join, and packed with information for families!
👉 https://www.patre.info/syngap1/

💙 THANK YOU to our amazing community:
Families, patient organizations, researchers, clinicians, and everyone who believes in a brighter future for those affected by SYNGAP1 and related RASopathies. Every registration, every data point, every story counts!

🔗 https://www.patre.info/syngap1/
🔗 https://euras-project.eu/

28/06/2025

🎉🏆 SYNGAP1 Research Wins Best Abstract Award! 🧠✨

What an incredible moment for our team – we’re beyond proud and deeply honored! 🙌💙

Our abstract on SYNGAP1 research just received the Mac Keith Press Best Abstract Award at the EACD / IAACD 2025 Congress in Heidelberg! 🎓📣

28/06/2025

🎉🏆 Research Wins Best Abstract Award! 🧠✨

What an incredible moment for our team – we’re beyond proud and deeply honored! 🙌💙

Our abstract on research just received the Mac Keith Press Best Abstract Award at the EACD / IAACD 2025 World Congress in Heidelberg! 🎓📣:

„Empowering Patients in Research: Insights from the World’s Largest Registry“

https://events.mcon-mannheim.de/frontend/index.php?page_id=9533&v=List&do=15&day=1472&ses=20919

👏 Lorenz stood on stage for all of us – his name is on the certificate, but this award celebrates the heart, passion, and teamwork of our entire crew and the amazing SYNGAP1 families who inspire everything we do! 💪❤️👨‍👩‍👧‍👦

Syngap Elternhilfe e.V. Syngap Global Network EURAS Project

This recognition is a powerful sign that patient-driven research in rare neurodevelopmental disorders is being seen and valued. 🌍🔬

A huge THANK YOU to the scientific committee, the entire EACD / IAACD community and Mac Keith Press for this incredible honor and support! 🙏🎉

21/06/2025

Heute ist SYNGAP1 Awareness Tag 💛💜💙

– ein Anlass, die Perspektive betroffener Familien in den Mittelpunkt zu stellen.

Als medizinischer Beirat der SYNGAP Elternhilfe e.V. freuen wir uns sehr, dass heute Eltern selbst zu Wort kommen. In kurzen Videos teilen sie offen, was die Diagnose für ihr Leben bedeutet – und welche Herausforderungen ihnen im Alltag begegnen.

Solche Beiträge sind wichtig: Sie helfen, SYNGAP1 besser zu verstehen – auch im medizinischen und therapeutischen Kontext. Und sie zeigen, worauf es aus Sicht der Familien wirklich ankommt.

💬 Vielen Dank an alle, die mitgemacht haben. Ihre Erfahrungen leisten einen wichtigen Beitrag zur Aufklärung und zur Verbesserung der Versorgung.

21/06/2025

On this year’s 💛💜💙💪, we are proud to share the first results from our latest study on clinical trial participation in SYNGAP1-related disorders.

These early insights reflect the incredible commitment of the – and show that families are not only engaged, but ready for the next step: clinical trials. 🧠💊

16/06/2025

Honored to participate in the 🇪🇺ERN EpiCARE - Rare and Complex Epilepsies Annual Meeting 2025 in beautiful Salzburg 🇦🇹

🧠 Great discussions on the importance of:
✅ Patient registries
✅ Natural history studies
✅ Number of one trials

All crucial to improve the lives of all our patients living with rare epilepsies.

A big thank you to Alexis Arzimanoglou, Eugen Trinka, and the entire team for organizing such a meaningful and productive meeting!

EURAS ProjectSyngap Global NetworkSyngap Elternhilfe e.V.

08/06/2025

🔔 New Questionnaire in the PATRE SYNGAP1 App – Your Input Matters! 🔔
Together, we are shaping the future of SYNGAP1 research 💙

Dear SYNGAP1 families, patients, physicians, and supporters,

📲 A new questionnaire is now available in the PATRE app, asking about your interest in participating in future clinical studies.
Your perspective helps us better understand how clinical trials can be designed in ways that work for real families and real lives.

🧪 Why is this important?
Your feedback helps us and our academic research partners to:
✅ Plan future clinical studies more efficiently
✅ Align new therapeutic approaches with the real needs of the SYNGAP1 community
✅ Make research more meaningful and patient-centered

💡 How to participate:
1️⃣ Open the MyCap PATRE SYNGAP1 App
2️⃣ Select the new Clinical Trials Questionnaire
3️⃣ Answer a few short questions – it only takes a few minutes!

📍 Not registered yet?
If you or your child is affected by SYNGAP1, you can join the registry by signing up at www.SYNGAP1.eu. This gives you access to the app and to future research opportunities.

🔬 Every voice brings us closer to understanding SYNGAP1 and developing better therapies.
Thank you for being part of this growing, committed, and inspiring community 💙

PS: We are thrilled to share a major milestone with you:
More than 400 SYNGAP1 patients are now enrolled in the PATRE SYNGAP1 Registry! 🎉
This is an incredible achievement — made possible by your continued trust and engagement. Thank you! 💙

EURAS Project Syngap1 Italia Syngap Global Network Syngap Elternhilfe e.V. Syngap1- Polska OvercomeSyngap1Syngap Research Fund - SRF, UK Syngap Research Fund Australia Syngap1 España Syngap América Latina

Gemeinsam mit der SYNGAP Elternhilfe e.V. möchten wir die Therapie, Diagnostik und Lebensqualität bei SYNGAP1 Patienten verbessern. Wenn Sie Ihre persönlichen Daten auf der nächsten Seite eingeben, werden wir mit Ihnen Kontakt aufnehmen und Ihnen die Studieninformationen zusenden.

20/03/2025

Support the SYNGAP1 researchers in EURAS Project now with our questionnaires to find new therapies!

📣We are proud to announce that our behaviour questionnaire is now available for all patients with or in all core languages 🇩🇪🇳🇱🇫🇷🇵🇱🇮🇹🇪🇸🇬🇧

The collected data will be essential to analyse the broad spectrum of severity amongst affected children and adults.💪

If you are already enrolled in the PATRAS registry, please check your myCap app for new tasks.

Not yet enrolled? Join our patient registry for Costello, CFC and Noonan via www.rasopathies.eu