Alongside the clinical trial, a number of other projects are being completed to ensure that the drug carbamazepine can be accessed by patients if the trial proves successful.
Biomarker development – A biomarker is a biological signal, often a chemical produced in the body, which can be used to monitor the body’s processes or the effect of a drug on a disease.
There are currently no biomarkers available for MCDS. A lack of biomarkers makes it significantly harder to measure the effect of a treatment on MCDS or to identify different variations of the disease, which are needed to tailor treatments to individual patients. To learn more about biomarkers, read our blog by Professor Mike Briggs, who is the Coordinator of MCDS-Therapy!
As part of the MCDS-Therapy project, Sciomics will be working to identify new biomarkers for the condition. The team at the University Medical Centre Freiburg will be simultaneously working to develop a new model system of human-stem-cell-derived MCDS cells, which can be used to help test these biomarkers.
Health Economics – Health economics is the study of the value of healthcare. It primarily aims to determine the cost-effectiveness of health interventions, such as treatments, by comparing the overall cost to society of a treatment to the overall benefit to society of treating that condition. Health economics helps governments decide which expensive treatments should be financed and delivered to patients.
As part of the MCDS-Therapy project, we will be working to understand the financial cost of MCDS to patients, the healthcare system and society. We want to provide evidence that treating the condition with carbamazepine (if proved to be effective in the clinical trial) is cost-effective. If you’d like to learn more about health economics, view our blog ‘Health economics: what is it and why bother?’ Express your interest in taking the Health Economic team’s quick survey to help improve the future of rare bone disease and skeletal dysplasia treatment and management!
Building the MCDS community – A rare disease diagnosis can be an isolating and devastating experience. Many patients struggle to find doctors who understand their condition and treatment needs. Some may never meet another with the same condition.
As part of the MCDS-Therapy project, we aim to work with patients to ensure that both the treatment and the clinical trial work for them. We also want to connect these individuals to help break the isolation felt and amplify their voices to ensure that it’s heard beyond the project. If you’d like to learn of any updates and opportunities for you to engage in upcoming projects or research, subscribe to our Skeletal Dysplasia Community Newsletter!