The road to therapy

MDC1A / Lama2 CMD is a very rare, congenital muscle disease affecting patients worldwide. Extensive research is needed to develop a cure. On this website we inform you about the patient organisations that fight for research and the various scientific studies that are ongoing. Together we fight for a treatment and a healthier future. Join the cause, stay informed, or donate.

What is MDC1A?
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What exactly is MDC1A?

Babies and children suffering from MDC1A / Lama2 CMD have difficulty walking and breathing due to muscle weakness. Among these symptoms, patients generally suffer from a lower quality of life. The disease is caused by rare mutations in LAMA2, a gene responsible for the protein that holds muscles together.

Although symptoms can be reduced with physiotherapy, currently there is no cure due to its rare nature and limited research opportunities.

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2019 conference

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Knowledge

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  • The experts answer your questions

    After being diagnosed with LAMA2-CMD at 39 years old, Cindy experienced 3 seizures, the last being generalised. This prompted brain CT imaging which revealed the typical periventricular hypo-density that is related to LAMA2-CMD. During her training to become a doctor, Cindy experienced occasional difficulties picking up findings on medical imaging. This prompted neuropsychological testing that…

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  • Dr. Dwi Kemaladewi on a promising new therapeutic strategy for MDC1A

    Dr. Dwi Kemaladewi has played a key role in developing a novel therapeutic approach, that has opened new treatment avenues for MDC1A patients. Her team’s work now involves improving the effectiveness and safety of this technology even further. Dr. Kemaladewi is part of a research team that has developed a novel therapeutic strategy which resulted…

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  • Prothelia: developing a protein replacement therapy for MDC1A

    Steven Axon is the CEO of Prothelia, a biopharmaceutical company based in Massachusetts, USA, committed to developing a promising new treatment for MDC1A patients. Patients with MDC1A have a mutation in the LAMA2 gene – a gene responsible for making a protein called laminin-211. In the body, muscle cells and muscle fibres are surrounded by…

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