LAMA2 Muscular Dystrophy: Paving the road to therapy

EJP RD monitoring of Networking Support Scheme on the  2nd International Conference on LAMA2-CMD held in Barcelona. On the 17-19th of March 2023 doctors, researchers, patients and families gathered in Barcelona for the second international conference on LAMA2-CMD: Paving the Road to Therapy.

General objectives:
LAMA2-MD is an ultra-rare, clinically heterogeneous disease, of which the diagnosis is difficult and many patients still need to be identified. The clinical history is only partially known and, despite intense research, a cure is not available. Also, existing treatments to preserve quality of life do not reach all patients and clinicians. The objective of the networking event is to address these issues and make further steps on the road to therapy for LAMA2-MD by: 1. Aligning patient registries and natural history studies and define biomarkers and guidelines which can be used in patient care; 2. Defining diagnostic criteria and guidelines for alleviating symptoms and maintaining quality of life with a dissemination plan for Europe; 3. Listing available patient samples for research, sharing confidential research progress and establishing a LAMA2-MD therapy task-force.

Main outcomes:
Objective 1: Ongoing and planned natural history studies from 9 European and other countries were presented. The necessity of conducting these studies in LAMA2-MD was emphasised, as these are required to establish trial readiness. To collect the necessary information, the importance of developing standardised registries was acknowledged. A clinical work group was formed, which will address this and is going to meet online regularly with patient representatives to allow a smooth transfer to the patients and regular care. A European initiative, for which funding will be requested, will further align and standardise these studies.

Objective 2: Patient organisations and patient representatives from 9 countries actively participated in the meeting, with many more from other countries online. A European LAMA2 community was established, which will be the umbrella organisation for the national organisation and for patients without national organisations. Concrete plans were made for facilitating potential trials within Europe, supporting and co-funding international research, and, primarily, informing patients and families of the latest research progress and clinical guidelines.

Objective 3: The key groups working on therapy development presented their work and exciting progress. Approaches were largely complementary, allowing open collaborations and stimulating joint initiatives. A therapy working group is formed, which will have regular research meetings. In addition, a scientific resource is being established, allowing a rapid exchange of biological samples, biomaterials, experimental models and protocols to shorten the road to therapy.

Read the full report here.