The last month has been incredibly busy for the Findacure team: we’ve been here, there and everywhere! In addition to launching our Student Voice essay competition, we travelled to Glasgow for our Rare Disease Showcase, attended the EyeforPharma summit, did a street collection in Cambridge, and just returned from the World Orphan Drug Congress in Barcelona. This is in addition to the usual meetings and project development work, including preparing for the translational research workshop in just over a week’s time – phewwww.

October also saw Rick and Libbie journey to Bologna for the first MCDS-Therapy annual meeting. For those who don’t know, Findacure is involved in the communication and dissemination aspect of this clinical trial, which is testing whether a repurposed drug is effective in children diagnosed with metaphyseal chondrodysplasia type Schmid or MCDS for short.

What is MCDS-Therapy?

MCDS is an ultra-rare bone condition that is associated with short stature, bowing of the long bones and joint misalignment – the latter two of which can lead to pain and immobility later in life. Pre-clinical investigations found that carbamazepine, an off-patent drug originally developed in the 1960s to treat epilepsy, could help reduce the bowing of the long bones and joint misalignment. MCDS-Therapy is testing whether carbamazepine has the same impact on humans living with MCDS – hence the need for the clinical trial. You can find out more on their website.

The meeting was a great opportunity to meet all 11 of the research consortium’s partners and learn about the progress they’ve made in their specific work packages. After Professor Mike Briggs, our Principal Investigator from Newcastle University, opened the day, Dr Michael Wright, our Deputy Coordinator and lead clinician based at Newcastle University Hospital Trust, explained what the clinical teams have been doing to get ready for trial launch. Specific discussions around this were led by the rest of the Newcastle crew and focused on their work getting the trial protocol ready, in data management and statistics, in health economics (including establishing a care pathway), and in patient identification and recruitment.

We also heard from Dr Ronny Scmidt from Sciomics about his efforts to identify a biomarker, which would help the clinical teams to assess of the efficacy of the drug. To end the meeting, our very own Rick Thompson gave a presentation about Findacure’s work in communication and dissemination, including establishing a branding scheme, preparing child-friendly patient information sheets, running a Twitter and Facebook group, and managing the website (which we have big plans for moving forward!).

One thing that became apparent very early on, and was regularly reiterated throughout the meeting, is that conducting clinical trials in ultra-rare diseases is very hard – even with a repurposed drug. The trial is recruiting to seven sites across Europe and Australia to ensure there are enough patients to make statistical conclusions about the drug’s impact. Each of these sites, however, has slightly different clinical trial rules and regulations that we have to abide to. It’s going to be challenging, but the MCDS-Therapy team is determined to make it work.