Dr. Carsten Bönnemann and Dr. Reghan Foley are running a natural history study for infants aged 0-5 years of age. This study is part of a wider effort to gain a better understanding of MDC1A and become ready for future clinical trials.
Dr. Carsten Bönnemann and Dr. Reghan Foley are working on collecting data on the progression of MDC1A in patients to prepare for future clinical trials and maximise the chances of potential therapeutic success.
To be ready for clinical trials there are three main points to consider. Firstly, clinical care for MDC1A patients needs be standardised and optimised around the world as much as possible. This is so that patients enrolling in future clinical trials can all start from the same optimal point. Secondly, identifying reliable clinical outcome measures is key. These are important measurements that will allow researchers to accurately measure whether a treatment is causing any positive effects in future clinical trials. Lastly, continuing to study the natural history of MDC1A is vital to gain a better understanding of the disease and how to treat it.
Significant clinical outcomes
In 2019, both researchers published a longitudinal study that assessed various clinical outcome measurements in 24 MDC1A patients aged 4-22 years of age over the course of four years. The study identified several significant clinical outcomes that can be used to measure the progression of body functions over time, such as muscle strength, pulmonary function and range of motion. However, data and clinical outcomes for very young MDC1A patients aged 0-5 years of age is still lacking.
To address this lack of data, a number of organisations including the NIH and Cure CMD have begun a retrospective natural history study to characterise aspects of MDC1A in young infants aged 0-5 years. The study aims to better describe the progression of MDC1A in these young patients and to establish clinical outcomes that will be useful in future clinical trials. Additionally, the study aims to identify potential prognostic variables for very young MDC1A patients. This would allow for the better optimisation of therapies as the patients get older. For more information on these studies and clinical trial readiness, please contact us!