💙 STXBP1 Foundation UK — Our First Official Meeting

Last night, the STXBP1 Foundation UK held its first official meeting, bringing together important updates on the charity, the rapidly developing global research landscape, and our plans for the UK STXBP1 community.

We’re incredibly excited about what lies ahead. Here are some of the key updates:

🇬🇧 Our charity is officially registered!

After around six months of work, the STXBP1 Foundation UK is now an officially registered charity. We’ve also established our core infrastructure, including a bank account, dedicated email addresses and access to discounted software to help us build the organisation.

🎯 Our mission

We want to:
• Connect UK families affected by STXBP1
• Support and encourage research
• Raise awareness of STXBP1-related disorders
• Build strong relationships with clinicians
• Make sure the UK is ready for future clinical trials

🔬 The global research landscape is changing rapidly

Back in 2019, there were no therapeutic programmes in development. Today, there are 18 different therapies in development globally.

The international STXBP1 community has now identified more than 1,500 people living with STXBP1, helping to demonstrate the strength and size of our community and increasing interest from pharmaceutical companies.

The global ambition is huge: three new clinical trials within three years and five approved disease-modifying therapies by 2036.

🧬 Gene therapy research continues

While the disappointing results from the Capsida trial were a setback, research has not stopped. A new gene therapy trial is now underway in China, demonstrating that the field continues to move forward.

📚 Natural history research matters

Taking part in studies such as the US-based STAR study and European ESCO research is incredibly important. These studies help researchers understand how STXBP1 develops and changes across a person’s lifetime.

One particularly encouraging area of emerging research is that meaningful developmental milestones may occur later than previously expected — an important message of hope for families.

🇬🇧 Getting the UK ready for research and trials

We are actively working to bring the UK into the international STXBP1 research framework, including ongoing discussions around potentially establishing an ESCO site in the UK.

🏃‍♀️🏃‍♂️ MOVE TO CURE — September Fundraiser

To help support our mission, we’re launching Move to Cure this September — inspired by STXBP1 being located on chromosome 9.

We’re encouraging families, friends and supporters to set their own personal challenge — whether that’s walking, running, cycling, swimming or something completely different — while raising awareness and funds for STXBP1 research and the UK charity.

💙 Every move brings us one step closer to a cure.

If you’d like to take part or support the campaign, you can donate here:

https://www.justgiving.com/charity/STXBP1-Foundation-UK

📧 Get in touch with the STXBP1 Foundation UK:

Dan — Dan.booth@stxbp1.co.uk
Claire — Claire.johnson@stxbp1.co.uk
Jaime — Jaime.macdonald@stxbp1.co.uk

Thank you to everyone who is helping us build the UK STXBP1 community. There is so much work to do, but for the first time, there is a growing global pipeline of potential treatments — and we want the UK to be ready. 💙

The link to the recording of the meeting should be landing in your inboxes very soon 🚀

#STXBP1 #STXBP1FoundationUK #STXBP1Disorder #RareDisease #RareDiseaseResearch #GeneTherapy #MoveToCure #STXBP1Awareness