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The MLD initiative
Project summary
Metachromatic leukodystrophy (MLD) is a rare neurometabolic disease caused by an impaired function of the enzyme Arylsulfatase A. When untreated, patients will develop progressive neurological symptoms and die prematurely. Treatment with allogeneic stem cell transplantation or gene therapy may slow or halt the patient’s decline.
With emerging new treatments, the MLD field is rapidly changing, and new research and regulatory questions arise. High quality data from the “MLD initiative” (MLDi) will help answering those questions.
The MLDi is an international patient registry for MLD and an academic collaborative network. Data in the MLDi registry can be used for academic research, regulatory decision-making and drug development. The database is Castor EDC based and consists of clinical-reported data and patient-reported data. To establish the data collected in the MLDi registry, a modified Delphi consensus procedure was done.
To improve the sustainability and reusability of the MLDi registry, interoperability with existing and future other databases should be improved. This FAIRification trajectory for MLDi is initiated and executed by the Dutch Healthcare Institute, in collaboration with the MLDi, Amsterdam UMC and Health-RI.
Social impact
MLD is a severe disease with very limited treatment options and a lot of scientific uncertainties about the best disease management. Patient data is scarce because MLD is a rare disease. Within te MLDi registry we work on maximizing the impact of the registry data by facilitating data access for regulatory/HTA bodies, researchers, clinicians, and drug developers.
We work on sharing and implementing new knowledge through e.g. scientific publications and facilitating international treatment eligibility panels.
FAIR objectives
Create interoperability with future and existing (international) MLD databases, particularly the post-marketing registry for Libmeldy. This will help to improve the sustainability of the MLDi database and will foster reusability of data. One of the challenges that were encountered during this project was about making our FAIR mission concrete, i.e. evolving from ‘become FAIR’ to ‘make a web-based semantic model to improve the interoperability.’ Subsequently, finding people with right expertise and knowledge to build and implement this model was challenging.
Read more
Regie op Registers voor Dure Geneesmiddelen (ROR DGM) | Werkagenda | Zorginstituut Nederland
www.medicijnvoordemaatschappij.nl
FAIR elements involved
Interoperable
Keyfacts
- International multi-purpose disease registry for metachromatic leukodystrophy
- Ultrarare disease
- Clinical- and patient/parent/partner-reported data
- Castor EDC
- Part of program 'Managing patient registries for Expensive Drugs' from Dutch Healthcare Institute
- Semantic model to improve interoperability with (future) other databases
Data type
- Clinical data
Organizations
- Amsterdam UMC
- Zorginstituut Nederland
- Health-RI
- Medicijn voor de Maatschappij
Funding
- Zorginstituut Nederland
- Medicijn voor de Maatschappij (Postcode Loterij)
