Collaboration Stichting Voor Sara and Maastricht University

A key element in this endeavour is bringing all MDC1A researchers together in Maastricht in November for a 3-day conference. Bram Verbrugge, father of Sara – with MDC1A – and chair of the foundation, is one of the initiators. He knows the impact MDC1A has on a child and experiences how difficult it is to obtain information on the course of the disease. Because little is known about MDC1A, it also is unknown what to expect for his daughter and other patients. Hopefully, this knowledge gap will be filled during the conference, as all participants together will have seen and experienced hundreds of patients. Therefore, they will be able to define the natural history and management of patients a lot better. The second aim of the meeting, is to join forces on the development of curative therapies.

Bert Smeets, professor at Maastricht University, works on stem cell therapy for muscle diseases, and was immediately caught by the strong motivation of the foundation to push the field forward not only for MDC1A, but also for other muscle diseases. Considering the great opportunities of the conference – to speed up the process to get to a much desired curative treatment – Smeets immediately offered to guarantee the scientific level and host the conference in Maastricht. Two days will be by invitation only, allowing researchers to share the latest, unpublished insights. On the third day the conference will open its doors for everyone with an interest in MDC1A, either personally or professionally.

Two talks will give an overview of the clinical spectrum and the different therapeutic approaches. The conference will be complemented by four talks of scientists, who are highly successful in the field. Furthermore, we will open ten thematic tables, where two specialists will be present to speak with either professionals or lay persons about the specific questions they have. We expect to have three rounds. The day will be closed with a walking dinner, allowing everybody to interact with each other or approach friends, professionals or specialists individually.