Ph.D. Karlijn Bouman: understanding the progression of MDC1A

Drs. Karlijn Bouman (PhD Candidate) is part of a team of Dutch doctors and researchers that are carrying out a natural history study for MDC1A patients. These studies aim to better understand how MDC1A progresses as a disease in patients overtime.

Alongside Dr. Nicol Voermans, Dr. Corrie Erasmus and Dr. Jan Groothuis, drs. Karlijn Bouman (PhD Candidate) is currently running a natural history study of MDC1A patients in Radboudumc Nijmegen, The Netherlands. A natural history study aims to characterise and describe the progression of a disease over time. These studies help researchers gain a better understanding of MDC1A as a disease, of how the disease progresses in patients over time and may help identify some patterns that may otherwise go unnoticed. As so little is known about MDC1A, these natural history studies provide valuable information that can contribute towards finding potential treatments.

Ongoing natural history study

Patients with MDC1A participating in this study will be asked to visit the Radboudumc four times over a period of 18 months. During these visits, participants undergo a series of non-invasive, low risk tests and examinations that are adapted to the age and functional abilities of each individual participant. These tests include neurological examination, several function tests and questionnaires, muscle ultrasound, electrocardiogram, echocardiogram, pulmonary function test, bone density scan, X-ray of the spine and muscle MRI. By collecting all these data, the study aims to better describe the natural progression of disease in MDC1A patients and to assess whether (and to what degree) cardiac and respiratory functions are affected. A third aim of the study is to select outcomes measures for future clinical trials. These outcome measures are tools that we can use to assess a patient’s current status and are important to evaluate the efficacy of treatments in future clinical trials.

Around 20 patients from The Netherlands and Belgium are currently enrolled in the study, including Sara that has already completed her first test visit. Further, preparations for the international natural history study are currently being made. This natural history study, which will be coordinated by Reghan Foley and Carsten Bönneman, will only include MDC1A patients below the age of 5 years. . The pilot phase of this international natural history study aims to include 10 different international research centres. Radboudumc has the intention to contribute to this study as well. It is important to include as many MDC1A patients as possible in these natural history studies. So, for more information on the studies or on how you can get involved, feel free to contact us!