On Saturday the 13th of October the first group of STXBP1-E families came to the VUmc to participate in the new study on STXBP1-Encephalopathy.
The Clinic day was organized as a collaboration between researchers at the FGA department of CNCR and clinicians from the Clinical Genetics department at Amsterdam UMC. The Clinic day marked the official start of the new multi-level study into STXBP1-Encephalopathy. For the first time, a group of STXBP1-E patients came together for standardized investigations at the level of symptoms, neuronal networks and individual neurons.
A total of 8 families participated in various research parts of the day and were seen by clinical geneticists and a neurologist for structured clinical assessments; electroencephalography (EEG) was performed and skin biopsies were taken. In addition, the Clinic day provided an opportunity for families to meet other families and researchers involved in STXBP1 research. Initiators of the Clinic day, Prof. Matthijs Verhage and PhD students Hanna Lammertse and Annemiek van Berkel, gave short presentations explaining the STXBP1 research study. These presentations were also attended by several other patient families.
The 1st Clinic day proved to be inspiring for both researchers and patient families. Researchers were able to observe the shared and distinct characteristics of the attending STXBP1-E patients and became more then ever aware of the pressing need to understand this disease better (and ultimately, find treatments). Feedback from the families indicated that it was valuable to meet other families and experience being actively involved in STXBP1 research.
We have been overwhelmed by the positive responses and the willingness to participate we received from families in the Netherlands and also abroad. A second patient Clinic day will be organized at the VUmc for those who could not join the research component on the 1st clinic day. Moreover, through international collaborations additional Clinic days are being planned in other countries for the near future.
We thank all involved researchers and clinicians for their help during the Clinic day.
From left to right: Jovana Kovacevic, Nikki van Bommel, Annemiek van Berkel, Desiree Schut, Lola van Linge, Melanie van Oort, Mala Misra-Isrie, Jessica Classen, Nathalie Bogaards, Mieke van Haelst, Marieke Meijer, Marc Engelen, Hanna Lammertse, Matthijs Verhage, Simon Houtman, Ruud Toonen, Anna Balagura and Francesca Marchese.