Research

Who: Dr. Nicol Voermans, Drs. Karlijn Bouman, Dr. Corrie Erasmus and Dr. Jan Groothuis
Where: Radboud University, Nijmegen, The Netherlands

Research: The researchers at Radboud University are currently running a natural history study for SELENON myopathy patients and MDC1A patients. The aim of the study is to gain a better understanding of how MDC1A progresses in patients over time and to identify suitable outcome measures in preparation for future MDC1A clinical trials.

Who: Prof. Dr. G. Cossu
Where: The University of Manchester
Research: Giulio Cossu is recognized for his pioneering work on skeletal myogenesis and for the first cell therapy trial with stem cells for muscular dystrophy. He conducted a first in man clinical trial of cell therapy for DMD and is starting a second trial with genetically corrected autologous cells.

Who: Dr. Carsten Bönnemann and Dr. Reghan Foley
Where: National Institutes of Health (NIH), Bethesda, United States of America

Research: Both Dr. Bönnemann and Dr. Foley with the NIH are working on collecting data on the progression of MDC1A / LAMA2-CMD in patients to prepare for future clinical trials and maximise the chances of potential therapeutic success. Both are collaborating with Cure CMD and running a retrospective natural history study to characterise aspects of MDC1A in young infants aged 0-5 years.

Who: Prothelia Therapeutics
Where: Milford, Massachusetts, United States of America

Research: Prothelia is a biopharmaceutical company uniquely focused on developing novel treatments for congenital muscular dystrophies. It’s lead drug program rhLAM-111 is as a protein replacement therapy for MDC1A / LAMA2-CMD. Prothelia is also collaborating with other partners on this map to run natural history studies that will help to establish the best clinical outcomes to include in potential future clinical trials.

More information can be found on the Prothelia website.

Who: Dr. Dwi Kemaledwi
Where: University of Pittsburgh, United States of America

Research: Dr. Dwi Kemaladewi has extensive training in human genetics and the development of gene therapies, with a focus on neuromuscular disorders. Her research focuses on the underlying molecular mechanisms involved in the pathophysiology of muscular dystrophies, using cutting-edge genetic technologies to study and develop therapeutic interventions for rare paediatric diseases.

Much of Dr. Kemaladewi’s recent work has involved optimising a gene therapy capable of activating the expression of a gene that can compensate for the mutated LAMA2 gene involved in MDC1A / LAMA2-CMD. This compensatory gene is called LAMA1 and is very similar to LAMA2. This strategy has shown positive results in early animal models of MDC1A and is described in more detail in a video presentation here.

Who: Professor Dr. Bert Smeets
Where: Maastricht University, The Netherlands

Research: Professor Dr. Bert Smeets is currently leading research investigating the use of genetically corrected muscle stem cells to treat genetic and non-genetic muscle diseases.

He is also a member of the newly formed research initiative Generate Your Muscle, which brings together a number of European research centres with the aim of to developing commercially producing affordable stem cell therapies for muscle repair and regeneration in affected individuals.