Together we are stronger!

The Italy-based patient organisation Association Dodò Onlus wants to give a voice and hope to all those affected by LAMA2-CMD so that a cure is found, not forgetting the projects of inclusion and accessibility for a better quality of life.

• Website Associazione Dodò

Who: Multiple researches
Where: Marseille Medical Genetics (MMG), France
Research: 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.

Cure CMD was founded in 2008 by three parents whose children have Congenital Muscular Dystrophy. Cure CMD’s mission is to advance research toward treatments for the congenital muscular dystrophies and improve the lives of those living with CMD through engagement and support of our community.

IMPULSAT is the official Spanish non-profit association representing people having Congenital Merosin-deficient Muscular Dystrophy (MDC1A-LAMA2).
We are a non-profit association created in 2017 by the family of Júlia and Élia, two girls who live with this disease Currently, ImpulsaT is made up of relatives, doctors, scientists and people who live with this disease.
ImpulsaT was created with the goal of finding the cure for MDC1A. For this reason, we work in the following lines:
PROMOTING AND CONTRIBUTING MEDICAL RESEARCH PROJECTS
Through the fundraising we promote and maintain medical research lines in order to improve the treatment and cure of MDC1A-LAMA2.
Since the creation of ImpulsaT we have managed to open two investigations in Spain. these research lines are taking place at the Research Institute in la Vall d’Hebron Hospital and at Pompeu Fabra University both in Barcelona, Spain. For more information on these two investigations, see here (https://impulsate.org/en/who-we-are/).
Through the ImpulsaT scientific committee we also work on connecting research teams in order to encourage them to collaborate and make progress on the research of this illness.
CREATING A SPANISH PATIENT REGISTRY AND SUPPORT NET
We promote the communication and collaboration among people suffering from this disease and the various national and international organisms to accelerate research, treatment and increase the knowledge about the disease.
We have also created the national register of people who suffer from Congenital Merosin-deficient Muscular Dystrophy (LAMA2-CMD1A) with an international registration form model which facilitates the compilation of medical information and enables further clinical research.
RAISE AWARENESS
We organize scientific and medical symposiums, family meetings, community events. We also create and distribute content to educate people about Congenital Merosin-deficient Muscular Dystrophy (LAMA2-CMD1A) and make them aware of the consequences of this illness.
We are also participating and creating a network of European associations with the same objectives as ImpulsaT. In the hope of advancing more rapidly in the investigation of this disease.

LAMA2 France, Contre les dystrophies musculaires par déficit en mérosine (Against merosin-deficient muscular dystrophies), was created in February 2021 by three families: Flora and Stéphane Talec, parents of Olivier, Séverine and Cédric Berreur-Parmentier, parents of Nathanaël, Céline and Koen Damon-Beeckaert, parents of Tess.
Our children are representative of the heterogeneity observed in this disease, which allows us to deeply understand the daily challenges that families face: Olivier has a very severe form, Nathanaël and Tess have partial forms (meaning their body produce some merosin/lama2 protein).
Our primary and ultimate goal? Treatments. Treatments that would stop the progression of the disease or reduce its severity. Treatments that would be accessible not only to newborns or young children but also to adults, because every slight gain in autonomy and well-being is worth it.
After only a few months of existence, we initiated the launching of a prospective Natural History Study and of a LAMA2 French patient repository, both essential prior to any clinical trial, with the support of the other French actors – clinicians, researchers, and the Association AFM-Téléthon (French Association against Myopathies -neuromuscular diseases.
And this is just a start! Our next goals are to continue to raise awareness about our very rare disease, to support clinical research and promising therapeutic pipelines on LAMA2 related dystrophies and to strengthen networking with other European and international ‘sister’ associations.

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.

The Dutch based Voor Sara foundation was founded at the end of 2016 by the parents of a girl named Sara, who suffers from MDC1A. Since then, Voor Sara has already made research into MDC1A possible at the University of Maastricht and the Radboud University at Nijmegen, both in The Netherlands. Aim of the foundation is to bring leading medical researchers and doctors together, as to make important steps into a cure for MDC1A.

• Website Voor Sara

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: Prof. Dr. Madeleine Durbeej
Where: Lund University, 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 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.