Research

Biotechnology Company
Where: Massachusetts, USA
Research: Modalis therapeutics are a pre-clinical phase biotechnology company developing a CRISPR-based gene therapy approach for the treatment of LAMA2-CMD

Biotechnology Company
Where: Basel, Switzerland
Research: SEAL Therapeutics focuses on developing a gene therapy for LAMA2-CMD using a linker-protein strategy. This appraoch was developed by Prof. Dr. Markus Rüegg and Prof. Dr. Peter Yurchenco.

Who: Prof. Dr. Peter Yurchenco
Where: New Jersey, USA
Research: Prof. Dr. Peter Yurchenco is an experimental pathologist focusing on the structure of basement membranes. His work involves the development of a gene therapy approach for LAMA2-CMD using linker proteins, in collaboration with Prof. Dr. Marcus Rüegg.

Who: Dr. Anna Sarkozy
Where: London, UK
Research: Dr. Anna Sarkozy is a consultant in neuromuscular diseases. Her research interests lie in the identification of genes, clinical characterisation of rare neuromuscular phenotypes, the natural history of the diseases as well as genotype/phenotype correlations, in particular for congenital myopathies and muscular dystrophies.

Who: Prof. Dr. Markus Rüegg
Where: Basel, Switzerland
Research: Prof. Dr. Markus Rüegg is a nuerobiologist leading research to understand the moleculuar mechanisms that maintain skeletal muscle structure and function.

Who: Prof Dr Andrea Klein
Where: Bern, Switzerland
Research: Dr Andrea Klein is a neurological peadiatric neurologist specialised in neuromuscular disroders who co-founded the Swiss Registry for Nueromuscular Disorders.
 
 

Who: Multiple research groups
Where: Paris, France
Research: The Institut de Myologie is a reference international research centre at the heart of Europe’s largest hospital, The Pitié-Salpêtrière Hospital in Paris. Created in 1996 under the leadership of an association of patients and their parents, the AFM-Telethon, the institute carries out numerous trials and investigations into a range of muscle diseases.
 
More information can be found here.

Who: Multiple research groups
Where: Marseille, France
Research: The research carried out at MMG aims to decipher the mechanisms involved in genetic diseases, open new diagnostic and therapeutic pathways and improve the quality of life of patients affected by these rare diseases.
Further detail can be found here.

Who: Dr. Avencia Sánchez-Mejías
Where: Barcelona, Spain
Research: Dr. Avencia Sanchez-Mejías has been investigating how stem cells from LAMA2-CMD patients’ bone marrow can be genetically corrected to potentially improve quality of life.
Further information and video presentation of her work can be found here.

Who: Dr. Nicol Voermans, Drs. Karlijn Bouman, Dr. Corrie Erasmus and Dr. Jan Groothuis
Where: Nijmegen, The Netherlands
Research: Researchers at Radboud University are currently running a natural history study for SELENON myopathy patients and LAMA2-CMD 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: Manchester, U.K.
Research: Dr. 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 Duchenne’s Muscular Dystrophy and is starting a second trial with genetically corrected autologous cells.

Who: Dr. Carsten Bönnemann and Dr. Reghan Foley
Where: Maryland, U.S.A.
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.

Biotechnology Company
Where: Massachusetts, U.S.A.
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 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: Pennsylvania, U.S.A.
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 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 LAMA2-CMD and is described in more detail in a video presentation here.

Who: Prof. Dr. Madeleine Durbeej
Where: Lund, Sweden
Research: Prof. Dr. Madeleine Durbeej leads the Muscle Biology unit at Lund University, Sweden, which researches laminin ɑ2 chain-deficient congenital muscular dystrophy.

Who: Professor Dr. Bert Smeets
Where: Maastricht, 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.