A patient-led association is helping improve lives and accelerate research into rare neuromuscular diseases.
The Association ASERMUDE is a Spanish non-profit organization that works to improve the quality of life of people affected by neuromuscular diseases and their families. Its work focuses on providing comprehensive support, reliable information, and ongoing guidance to those living with these conditions, many of which are chronic and rare. Through a close and multidisciplinary approach, ASERMUDE has become a key reference for patients and caregivers in its community.
Neuromuscular diseases include a broad group of disorders that affect muscles and the nervous system, such as muscular dystrophy, amyotrophic lateral sclerosis (ALS), and congenital myopathies. ASERMUDE addresses these conditions, with particular attention to repeat expansions in the PLIN-4 gene. This hereditary disorder causes progressive muscle weakness and atrophy, initially affecting the hands, forearms, legs, and feet, and gradually spreading to the rest of the body. ASERMUDE provides guidance and support to families affected by this condition. Its main goal is to reduce the impact of the disease on daily life and promote personal autonomy.
In addition to its care-related work, ASERMUDE actively participates in research projects and initiatives aimed at generating knowledge. The association collaborates with research centers, healthcare professionals, and other scientific organizations to advance diagnosis, treatment, and monitoring of these diseases. This involvement helps ensure that patients’ voices are included in key decision-making processes.
Currently, ASERMUDE is working with the Precision Animal Modeling Center at the Autonomous University of Barcelona to develop a mouse model carrying the PLIN-4 gene mutation. This model will help researchers better understand the disease and explore potential solutions that do not yet exist.
In this context, ASERMUDE is also committed to innovation in digital health and the development of tools that improve clinical care and data management. Its participation in research projects helps integrate the patient perspective into technological solutions, promoting a more inclusive and patient-centered model.
For this reason, ASERMUDE has expressed interest in collaborating with the European project COMPASS-NMD, an initiative that aims to transform the management of neuromuscular diseases through data, artificial intelligence, and international cooperation. The involvement of patient associations is essential to ensure that the solutions developed respond to real needs and have a tangible impact.
The collaboration between ASERMUDE and COMPASS-NMD represents an opportunity to move toward a more connected, participatory, and efficient healthcare ecosystem. Integrating patient experience into innovative projects not only improves outcomes but also strengthens the role of patient organizations as key agents of change. Together, we continue building a more hopeful future for people living with neuromuscular diseases.
If you would like to learn more about ASERMUDE’s work or get involved, you can contact the association through their e-mail address: asermude@gmail.com
