Together we are stronger!

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

Patient Organisation
Associazione Dodò is the Italian patient organisation aiming to give a voice and hope to all those affected by LAMA2-CMD.
By promoting projects of inclusion, accessibility and education, Associazione Dodò works towards improving patients’ quality of life and finding a cure for LAMA2-CMD.
More information can be found here.

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.

Patient Organisation
ImpulsaT is the official non-profit association representing Spanish patients living with LAMA2-CMD.
Created in 2017 by the family of  Júlia and Élia, two girls living with this disease, ImpulsaT is a non-profit association made up of relatives, doctors, scientists and patients with the goal of finding a cure for LAMA2-CMD.
More information on their objectives and achievements can be found here.

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.

Patient Organisation
LAMA2 France was created in February 2021 by three families affected by LAMA2-CMD. Their goal is simple: to promote the development of life-changing treatments for LAMA2-CMD patients.
Since their creation, LAMA2 France has already initiated the launching of a prospective Natural History Study and of a French LAMA2-CMD patient repository
A detailed summary of LAMA2 France’s goals and achievements so far can be found here.

Patient Organisation
The Dutch Voor Sara Foundation was founded in late 2016 by the parents of Sara, a young girl living with LAMA2-CMD.
The foundation’s main aim is to bring the leading medical researchers and doctors together, and promote the development of a cure for LAMA2-CMD. The foundation also played a key role in bringing together all the European patient associations to build this collective website.
Additionally, the foundation has made LAMA2-CMD research possible in two Dutch universities and has organised two international conferences focused specifically on LAMA2-CMD and the development of a cure. More information about Stichting Voor Sara and their achievements so far can be found here.

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.

Patient Organisation
Founded in 2008 by three American families affected by Congenital Muscular Dystrophies, Cure CMD’s mission is to advance research toward treatments for congenital muscular dystrophies and improve the lives of those living with CMD through engagement and support of our community.
Find more information here.

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.