The knowledge base

  • Join the Congenital Muscle Disease International Registry

    The Congenital Muscle Disease International Registry (CMDIR) aims to advance neuromuscular research by collecting vital data and by growing advocacy for congenital muscular dystrophies. The CMDIR was created in 2009 with the aims to raise awareness and standards of care, assist patients with enrolment in clinical trials and generally aid the research community in developing…

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  • 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…

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  • Dr. Carsten Bönnemann on MDC1A clinical trial readiness

    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…

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