We are part of an EU Horizon 2020 funded project for the ultra-rare disese MCDS.

Our role in MCDS-Therapy

We are proud to be one of 11 international consortium members who are working to repurpose the drug carbamazepine to treat the ultra-rare bone disease, Metaphyseal chondrodysplasia schmid type (MCDS).

We are responsible for the external communications and patient engagement work at MCDS-Therapy. We maintain the official MCDS-Therapy website and run the project’s social media channels. Our team is building a community of rare bone disease patients, families, researchers and clinicians through the project’s Facebook and Twitter profiles and quarterly newsletters.

Our role is to bring the patient experience to the forefront of the consortium’s work. We meet with MCDS and skeletal dysplasia patients, share their stories on the MCDS-Therapy blog and seek their feedback through surveys and focus groups. Patient responses are highlighted and shared by us at consortium meetings. We champion the patient voice and ensure that patients remain at the heart of the MCDS-Therapy project and clinical trial.

To learn more about this promising drug repurposing project, visit the official MCDS-Therapy website. Meet the other consortium members and learn the science behind MCDS now!


What is Metaphyseal chondrodysplasia schmid type (MCDS)?

MCDS is an ultra-rare bone disease that leads to:

  • Short stature
  • Disproportionately short arms and legs
  • An impaired gait
  • Bowing of the legs
  • Hip deformities

MCDS is usually detected during childhood between the ages of two and three with x-rays and genetic testing. The risk of passing down the faulty MCDS gene from parent to offspring is 50%.

MCDS patients and their families have waited over 25 years for the first therapy to be developed for their rare condition. MCDS-Therapy is working to change this by running a clinical trial as part of the project to test whether the drug carbamazepine, which was originally used to treat epilepsy and bipolar disorder, can be repurposed to treat MCDS. The consortium is working to prove that carbamazepine is not only safe to use, but also effective in reducing the pain and mobility difficulties experienced by MCDS patients.