Congenital muscular dystrophy due to LAMA2 deficiency (MDC1A) is a severe inherited disease for which there is still no effective treatment. Recently, the ImpulsaT association donated €20,000 to support research into this rare disease led by the Vall d’Hebron Research Institute (VHIR).

With the aim of improving the quality of life of children affected by MDC1A and advancing towards new therapeutic options, several families created the ImpulsaT association. ImpulsaT seeks to raise awareness of the disease, build a network among affected families and, above all, promote research projects. As the association explains, “when you receive this diagnosis, you understand what a rare disease is and that research is the only path towards potential treatments. Faced with this reality, we decided to come together to transform concern and uncertainty into action”.

“For us, it is essential to collaborate with Vall d’Hebron research, a leading centre in innovation and scientific commitment. We are convinced that research is key to improving the quality of life of affected individuals and to advancing towards potential treatments”, explains Pau Martí, Vice-President of ImpulsaT. “Being able to closely follow the work, dedication and commitment of the research teams gives us hope and encourages us to continue joining efforts through ImpulsaT. At the same time, it makes us feel part of a shared project that works every day to build a better future for affected children and their families”, he adds.

To achieve this, ImpulsaT organises various fundraising activities, such as sporting events, cultural activities and awareness campaigns through social media. Many of these initiatives originate from the association’s own families, with support from their local volunteer network. The association’s members are also essential, as their regular contributions provide stability and allow a long-term commitment to research to be maintained. In addition, the association receives occasional support from partner companies and from Castellbisbal City Council, which provides a grant specifically allocated to VHIR research.

Research to better understand LAMA2-deficient muscular dystrophy

MDC1A is a rare and severe neuromuscular disease that causes hypotonia, mobility, respiratory and swallowing difficulties. The ImpulsaT donation enables VHIR research teams to further characterise the disease, identify new biomarkers and explore innovative therapies.

Based on a long-term natural history study in patients across Spain, the team is working to expand clinical, functional and imaging assessments, also incorporating cognitive evaluations and refined digital motor outcome measures using movement analysis. Therapeutic efforts will focus on two main approaches: cell therapy using adipogenic cells derived from the mesenchymal lineage in a murine* model of MDC1A, and gene editing based on CRISPR/Cas editors to correct prevalent mutations in patients.

By combining deep phenotyping, state-of-the-art biomarkers and innovative therapies, the aim is to lay the groundwork for future clinical trials and precision medicine approaches targeting this disease.

“The participation and support of both the ImpulsaT Association and Castellbisbal City Council represent a decisive boost and a key element for the development of the project, as well as an example of the importance of such collaborations in scientific research in our country”, the research team concludes.

*Institutional statement on the use of research animals