The conference is being organized by a collaboration between Maastricht University, LAMA2-Europe, and Yeditepe University in Istanbul. Maastricht University and LAMA2-Europe previously worked together to hold the first international LAMA2 conference in Maastricht, the Netherlands, in 2019, and a second, larger conference called ‘Paving the Road to Therapy’ in Barcelona in 2023.

Maastricht University, led by Professor Bert Smeets, a top expert in LAMA2 research, is in charge of the scientific program. LAMA2-Europe, represented by Bram Verbrugge, the father of a child with LAMA2, will involve its wide network of patients and families in the event. Yeditepe University, led by Professor Haluk Topaloğlu, who was one of the discoverers of LAMA2MD as a separate disease, is to connect with the large, previously underrepresented local community of researchers and patients.

Organizers

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  • Bert Smeets is a Professor, at Maastricht University, in Clinical Genomics with a focus on Mitochondrial Diseases.

    Mitochondrial diseases are caused by mutations in either the mitochondrial or nuclear DNA. Using whole-exome sequencing (WES), a joint diagnostic, and research effort it was revealed genetic defects in 2/3 of a selected mitochondrial disease cohort. Additionally, the team successfully developed a life-saving treatment based on two identified gene defects for fatal mitochondrial diseases (SLC19A3–Thiamine, ACAD9–Riboflavin). However, these genes are not defective in the majority of patients. Therefore, the team now aims to develop a generic stem-cell-based strategy to treat myopathy in patients with mtDNA, which is the primary symptom they generally suffer from. This can be extended to other muscle diseases, both genetic and non-genetic. To achieve this, the team will use muscle stem cells obtained uniquely from each individual, called mesoangioblasts. These cells are multiplied through cell culture, then injected into the bloodstream, and finally migrate out of the blood vessels to repair damaged muscle. Patients with the m.3243A>Ggt;Ggt;G mtDNA mutation in muscles have mesoangioblasts, which are largely mutation-free and ready to be used for therapy. The team has successfully completed a safety trial and is currently executing a Phase IIa clinical trial to determine efficacy. Furthermore, the team has extended this approach to patients suffering from nuclear genetic muscle diseases, particularly LAMA2-RD, by correcting the LAMA2 gene defect using CRISPR/Cas9, compensating for the defect, or using antisense technology to suppress a common splice-site mutation in the LAMA2 gene in NethA2 patients. This is expected to improve both their LAMA2-related muscle problems and the muscle mitochondrial deficiencies they suffer from.

    For more information on our strategy, please visit: www.generateyourmuscle.com.

  • Professor Haluk Topaloğlu, is a prominent Turkish pediatric neurologist, who while studying a group of children with what was then known as "Occidental type cerebromuscular dystrophy," in the 1990s, identified LAMA2 as the causative gene.

    Beyond LAMA2, he has contributed to the identification of over 25 novel neuromuscular genetic conditions, and the creation of international guidelines on the diagnosis and management of Guillain-Barré syndrome and chronic inflammatory demyelinating neuropathies.

    He has served as the secretary of the World Muscle Society (2001-2019) and the President of the Gaetano Conte Academy of Myology (2018-2019), and has been awarded with the Hacettepe University Award in Medicine (2002), the TÜBİTAK (Turkish Scientific and Research Council) Medical Research Award (2003) and the Clinical Research Award (2015) from the Gaetano Conte Academy of Myology.

Organizations

  • We are an alliance of European patient associations representing those affected by LAMA2-Congenital Muscular Dystrophy (LAMA2-CMD), also known as Merosin-Deficient Muscular Dystrophy (MDC1A). 

    Our mission is to further advance awareness and research for LAMA2-CMD internationally and to directly support patients and families by providing relevant information and resources.

    By including the patients and families, and by collaborating with the clinicians, researchers and members of the biotech industry involved with LAMA2-CMD around the world, we aim to accelerate the road to therapy in a truly united and collective global effort.