What Signs or Symptoms Should Be Prioritized in the Treatment of MLC?

Dear parents/caregivers,

We have recently started a study on patients with MLC, a rare genetic neurological disorder characterized by motor difficulties, developmental delay, and epilepsy.

One of the aims of our study is to establish an international registry to collect clinical data about patients with MLC in a centralized and anonymous manner. With this, we hope to gain a better understanding of the disease, enabling us to provide better information to parents and patients and hopefully assess therapies effectively in the future. Please note that this message is not about the registry yet. Once the registry opens, we will inform you, so you can register your affected patient.

This message is about priorities in therapy development. We would like to know which difficulties caused by MLC you would like to see changed first or most, if treatment would be available.

In the following questionnaire, we have included four questions that focus on which improvements you consider important regarding your child with MLC.