The STXBP1 team (FGA) joined 150 other researchers, healthcare professionals, industry representatives, and patient families and -advocates from all over the world for the first European meeting fully dedicated to STXBP1
The first European STXBP1 Summit and Research Roundtable, May 16-18, 2023, brought together stakeholder groups related to STXBP1 disorders from all over the world: fundamental researchers, healthcare professionals, representatives from industry and patients and their caregivers and advocates. The most recent insights were shared, existing collaborative networks were highlighted, new joint research was established, critical future targets were defined and awareness on STXBP1 disorders was promoted. The STXBP1 summit is an annual event organized intermittently between the US and Europe.
On May 16th, basic scientists presented many advances in our understanding of this disorder. A generalized disease concept was proposed and new insights from studies in animal and human models were shared. Several presentations provided clear perspectives towards therapeutic interventions and possible human biomarkers: new molecular targets, new cellular and network assays that establish STXBP1-related phenotypes, new EEG-based biomarkers, new small molecules that rescue phenotypes in fly and mouse models, cell-based strategies, new RNA-based strategies that upregulate STXBP1 mRNA levels and new gene replacement strategies that rescue STXBP1-related phenotypes in mice. A roundtable discussion defined key goals for the future: critical test of the disease concept, specific research into the role of aggregation, more targeted translation and a specific focus on phenotypic diversity.
The second day showcased new insights in the clinical spectrum and the design of targeted therapies for STXBP1 disorders. New disease phenotyping approaches and potential biomarkers were presented, as well as results from the first clinical trial, retrospective studies in US and EU, and new analyses of specific phenotypes, such as sensory profiles, visual impairments, gastrointestinal abnormalities and gait deviations. Moreover, two natural history studies were presented for the first time, one among five clinics in the US, the other among eight countries in the EU + Israel, called ESCO. The two initiatives both start later this year and were developed in close collaboration with planned data sharing and joint analyses. Representatives of similar initiatives for other indications (Angelman’s syndrome and CDK5L disorder) shared their experience. Finally, a round table discussion addressed how clinicians and industry work together in designing targeted therapies for STXBP1 disorders.
The final day was devoted to patient perspectives. Patient families joined in person at the venue or presented online from Europe, North and South America and Australia on their personal experience and their national initiatives. A multisensory room was installed at the venue. Key targets were defined and the role of patient advocacy groups in the development of therapy was discussed. A roundtable discussion addressed urgent family needs, conditions to participate in natural history studies and global organization of patient families and interests.
Participants generally felt that the field has progressed tremendously over the last year with many new perspectives emerging, important initiatives now underway and a better global organization of patient families, information sharing and collaborations among all stakeholders.
We acknowledge the great support by EJNP/European Union, The STXBP1 foundation and industrial sponsors BioMarin, UCB, Encoded Therapeutics, Immedica, Neuraxpharm, Sylics/Innoser and Neurospector.
The detailed program of the meeting can be found here