Periodic Reporting for period 3 - MCDS-Therapy (Repurposing of carbamazepine for treatment of skeletal dysplasia)
Okres sprawozdawczy: 2020-12-01 do 2022-05-31
The goal of MCDS-Therapy is to advance the repurposing of CBZ to deliver the first non-surgical therapeutic intervention for MCDS. As part of this project a comprehensive health economic assessment of the socio-economic burden of MCDS and the potential benefit of pharmacological intervention will be delivered, whilst the identification of novel biomarkers will determine clinical efficacy.
MCDS-Therapy is aligned with “SC1-PM-08-2017: New therapies for rare diseases” which advances the development of therapeutic options for rare diseases. MCDS-Therapy will provide proof-of-principle that targeting cell-stress is an innovative and cost-effective therapeutic approach for rare diseases with this disease mechanism.
Defining clinical end points for rare disease trials is often a challenge, particularly for rare bone disease in which improved bone growth may not be apparent during the course of drug treatment. Identifying biomarkers is therefore a priority and a MCDS ‘biomarker signature’ was previously identified using serum samples from mouse models of MCDS (+/- cbz treatment). Serum samples have been collected from all UK patients (n=9; base line + treatment) and analysed on the ‘scioDiscover assay’ platform (n=47 samples in total). Preliminary analysis has identified several potential early treatment response markers and a trend towards a to partial resolution of stress and chronic inflammation as a result of the cbz treatment.
A comprehensive health economic assessment of the socio-economic burden of MCDS and the potential benefit of pharmacological intervention is important and as a first step in informing the final budget impact and cost-effectiveness analyses a conceptual model of patient care and disease progression was developed based (WP4). A Qualitative study to explore perceptions and experience of patient and care givers were completed at this stage. This represents an essential step for the quantitative study of preference elicitation. Progress was made on quantitative preference survey design as of attribute selection, ranking and definition levels.
Over the third reporting period the WP6 team have focussed on refining digital communication and outreach in order to continue our work despite the challenges of COVID-19. Through improved website SEO, an expanded and more diverse blog, and refined copy with more accessible language, we have increased the traffic to the MCDS-Therapy website, and its impact on our audience. Social media has also seen real growth after the implementation of a new social media strategy and dedicated manager. This in turn has increased our connection with the global MCDS community.
A large integrating project such as MCDS-Therapy requires a robust management platform (WP7) and this was in place during the 1st reporting period. Procedures for the efficient coordination and administration of MCDS-Therapy, such as the operational committees, are now established and functioned efficiently during the 3rd reporting period.