The more patients are documented and the more consistently data on a rare disease is collected, the more knowledge can be gained. An independent and international patient registry serves as a catalyst in this process.

For new therapies targeting rare diseases, much about their efficacy often remains unknown. This is understandable, as there are typically few patients, making it challenging to draw general conclusions. Furthermore, rare diseases may progress slowly or inconsistently, meaning treatment outcomes can take a long time to become apparent.

Unfortunately, for patients with rare diseases, there are often no real treatments available. As a result, medications are sometimes granted market approval under specific conditions: there is hope that they will work, but certainty is not guaranteed. This necessitates additional research, referred to as a post-marketing study. For such studies, manufacturers often establish a registry for all patients using their medication. However, if another therapy becomes available for the same rare disease, a separate registry is usually created by another manufacturer.

This results in situations where a single rare disease may have as many as four different registries, each tracking slightly different variables and conducting tests in different laboratories. Moreover, since these manufacturers are competitors, they typically do not collaborate. This situation could be improved if physicians and patients take the initiative to establish a robust disease registry.

Involving as many patients as possible in research

For research into rare diseases, patient groups are small, making it especially important for as many research groups and academic hospitals as possible—both nationally and internationally—to contribute patients. They can do this by (1) including their patients in a registry and (2) ensuring that all researchers collect data in a uniform manner, allowing for meaningful comparisons.

What does ‘Medicine for Society’ do?

“Medicijn voor de Maatschappij” (Medicine for Society) is expanding the local patient registry at Amsterdam UMC for the rare disease metachromatic leukodystrophy (MLD) into an independent European patient registry. This initiative is supported by the European Reference Network that includes MLD, as well as by the European patient association. To gain formal recognition, a ‘qualification opinion’ will be requested from the European Medicines Agency. This registry will enable the study of the natural progression of the disease and provide a solid foundation for evaluating new treatments.

Additionally, Medicijn voor de Maatschappij investigates the regulatory aspects of patient registries: what is required, how they can be promoted, and how they can be set up and utilized effectively.

The MLD initiative has its own website: www.mldinitiative.com.