Survey mapping potential participation in MECP2 Duplication Syndrome trials

Research on MECP2 duplication syndrome has taken an unprecedented step: entering the world of clinical trials. This is a spark of hope for many families who have worked tirelessly for years to provide a better future for our children. However, we still have to go through this phase, which will not be the easiest. The primary purpose of clinical trials is to ensure that the developed drug is not harmful to our children and, secondly, to determine its effectiveness.

Clinical trials, although long and complex, are essential. Without patients, there is no trial, and without a trial, there is no hope of changing the course of the syndrome. While, we are all eagerly awaiting the start of the ION440 (Ionis) clinical trials, another clinical trial, HERO, for HG204 (HuidaGene), started end of 2024, in China.

For our team at DupMECP2, it is crucial to know if families would be willing to participate in these trials. Depending on interest, we can then help identify hospitals based on the geographical location of the families.
With the support of Kepler Hospital (Linz, Austria), we have created a questionnaire to collect information on this subject. We strongly encourage you to participate.

This questionnaire is anonymous, which is why the last two questions are optional. However, it would be very helpful if you could share an email address that will be communicated to the neurologist at Kepler Hospital, Dr Gudrun Gröppel, a specialist in the syndrome and medical advisor to the DupMECP2 association so that she can share other questionnaires related to clinical trials.

We are currently working on a new registry for MDS, associated with a module for sending questionnaires. This will be launched by the middle of the year. In the meantime, we invite you to participate in the questionnaire below.

We welcome responses from all continents. Please feel free to share the link with as many affected families as possible.

Please note, that your responses to the questionnaires do not in any way imply participation in a clinical trial. This is solely to collect statistical data for research purposes.

We thank you in advance for your participation.