The February Myology Café featured as its guest speaker, Gisela Nogales-Gadea, a senior biomedical researcher and group leader, Badalona Neuromuscular Research Group (GRENBA), part of the Germans Trias i Pujol Research Institute (IGTP), Badalona, Catalonia, Spain. At GRENBA, Gisela leads a multidisciplinary team dedicated to understanding neuromuscular disorders, particularly Myotonic Dystrophy type 1 (DM1), through integrated approaches spanning genetics, epigenetics, transcriptomics, proteomics, and advanced cellular models.

She is also the coordinator of DM1-Hub, a pioneering national initiative that has brought together more than 100 healthcare professionals across Spain to systematically study the natural history of DM1. This collaborative network has become a landmark effort, generating high-quality clinical and molecular data aimed at improving diagnosis, patient stratification, and future therapeutic readiness.

In the Myology Café, Gisela presented the DM1-Hub project, its structure, and the most relevant scientific and clinical advances emerging from this unprecedented national collaboration.

She has also provided a written summary for the benefit of WMS members.

DM1-Hub Registry – Spain – Gisela Nogales

Importance of the Project

Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy in adults. In recent years, there has been increasing interest among researchers in the development of new therapies for this condition, highlighting the importance of better understanding this patient population through well-structured registries.

How did the project start and what is its current status?

The first step was to meet with local clinicians, researchers, and patient organizations in order to understand the available resources, infrastructure, and specific needs in each country. Based on this assessment, it became possible to design a registry framework tailored to each context.

Subsequently, collaborative efforts focused on securing the necessary funding to support the development and long-term sustainability of the registry.

The project also contributed to the expansion and organization of genetic testing across Spain to confirm the diagnosis of DM1, helping to improve patient identification and facilitate inclusion in the registry.

Main Information in the Registry (Data Collection – >500 Variables)

The DM1-Hub registry collects more than 500 variables covering multiple domains of clinical and demographic information in patients with myotonic dystrophy type 1.

The registry includes data on:

• General and Demographic Information: date of birth, sex, place and country of birth, and country of residence.
• Diagnosis and Genetics: age at diagnosis, CTG repeat length, and age at symptom onset.
• Clinical Evaluation: assessment of myotonia (clinical evaluation and vHOT), motor function scales such as the 6-Minute Walk Test (6MWT), 10-Meter Walk Test (10MWT), handgrip strength, Modified Rankin Scale, and DM1-Activ. The registry also includes information on the use of wheelchairs and feeding tubes, as well as comorbidities such as diabetes, dyslipidemia, cancer, gastrointestinal symptoms, cataracts, and cardiac history.
• Cardiac and Pulmonary Function: including cardiac evaluation and respiratory function parameters.
• Neuropsychological Assessment.

Collectively, these data provide important insights into different aspects of the disease and are highly relevant when considering clinical trials and the development of new therapies.

Perspectives for Latin America

An important prerequisite highlighted by Juliana Gurgel-Giannetti is that in many Latin American countries, access to genetic testing for DM1 is limited and highly variable from country to country. This creates significant challenges for reliably identifying patients, which is an essential first step before establishing a functional registry.

Improving access to genetic diagnosis should therefore be considered an early milestone to ensure that any future registry—whether inspired by the DM1-Hub model or adapted to regional realities—can be successfully implemented.

For further information about the project, please visit the website or contact the project team.