Kick-off for SYNGAP1 study in adults!
Participate in our research and contribute to medical knowledge about SYNGAP1 syndrome!
Continue ReadingDRUP study has started! Patients with Dup15q wanted.
We invite parents of children with Dup15q syndrome to participate in an important study aimed at identifying the signs and symptoms of this genetic disorder in the Netherlands.
Continue ReadingUNIEK study started! – Participants wanted
The UNIEK study started in April 2023. Within this study, we are conducting research into people who have been found to have a rare genetic variant and who have been diagnosed with an autism spectrum disorder (ASD). We are looking for participants! Do you want to participate?
Continue ReadingZEN study
Met de ZEN studie proberen we te onderzoeken of hoge resolutie zenuwechografie gebruikt kan worden voor het onderzoeken van de zenuwen van mensen met neurofibromatose type 1. Ook onderzoeken we of we veranderingen over de tijd kunnen meten.
Continue ReadingParticipation in drug study for Dup15q Syndrome
Our expertise center is currently assessing whether there is interest in participating in a new drug study. We ask parents to read this document (only in Dutch) carefully and let us know if you want to participate.
The ROSA Study has started!
The ROSA study for children with Angelman syndrome started in June 2021. In this study we are looking for suitable and feasible outcome measures for children with Angelman syndrome, and we want to learn more about the natural history of this rare syndrome.
Continue ReadingTot nader bericht vol – Roche Tangelo studie open voor inclusie van kinderen in ENCORE Angelman syndroom expertisecentrum van Erasmus MC
Roche's study into a treatment for Angelman Syndrome has been approved by the medical ethics committee (CCMO and METC), which means that Dutch children with Angelman syndrome can now also participate.
Continue ReadingThe TRAIN-study
In the TRAIN-study, we will conduct a study with trametinib in adult NF1 patients with plexiform neurofibromas that cause complaints.
Continue ReadingSPECIAL X
Research on the social and mental skills and autism characteristics in children with Fragile X Syndrome.
Continue ReadingVEP-NF1 study
Visual information processing in adults with and without Neurofibromatosis 1
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