A special issue of the Journal of Neuromuscular Diseases has been dedicated to the ‘Treatabolome’ – a new online database for rare disease and gene-specific treatment information.
Rare diseases
There are over 7,000 known rare diseases affecting around 300 million people worldwide. Historically, ~25% of rare disease patients have endured a diagnostic odyssey lasting up to 30 years. Advanced technologies have enabled experts to more efficiently diagnose a growing number of rare diseases. However, there are only treatments available for 5% of rare diseases. The current diagnostic and therapeutic management of rare diseases is unsatisfactory, particularly for unsolved rare disease cases. Nonetheless, recent developments point towards an increase in targeted treatments in the coming years. This is demonstrated by the development of multiple gene therapies and the increase in the number of orphan drug applications.
Launched in 2011, the International Rare Diseases Research Consortium (IRDiRC) set out ambitious goals to develop 200 new therapies for rare diseases by 2020. The objective was reached ahead of schedule in 2016. Now, they propose 1,000 new treatments by 2027. The need to increase the visibility of these treatments is the objective of the Treatabolome project. This project comes from Solve-RD – a research project funded by the European Commission for five years (2018-2022). Their main ambitions are to solve large numbers of rare diseases and also improve diagnostics of rare disease patients.
The Treatabolome Project
The Treatabolome project is a research initiative to develop a freely available and interoperable online platform that is dedicated to disseminating information about rare diseases and gene-specific treatment. The information is available to all healthcare professionals regardless of their level of specialised expertise.
In the special issue, the Solve-RD project invited expert teams to produce systematic literature reviews for rare diseases of their expertise and also collate datasets of treatments for incorporation into the Treatabolome database. They specifically cover:
- Genetic forms of Parkinson’s disease
- Skeletal muscle ion channelopathies
- Hereditary peripheral neuropathies
- Metabolic myopathies related to glycogen storage and lipid metabolism
- Laminopathies
- Therapeutic approaches in facioscapulohumeral muscular dystrophy
The intention is that the main body of data within the Treatabolome platform will come from expert-led systematic literature reviews, such as those published in the issue. These experts will bring evidence-based information in a standardised format that is FAIR-compatible and can be easily uploaded to the database. The hope is that the database will prevent treatment-onset delay.
The next steps of the project will be extending it to other rare disease experts to produce other datasets that will enrich the database and facilitate treatment awareness for rare diseases. One of the main challenges will be to find a way to ensure the sustainability of the platform. As a result, the team are exploring AI pathways that will enable future updates of the database.
Guest Editor, Dr. Gisèle Bonne, expressed:
“We must strive to work towards a world with progressively fewer ‘undiagnosed’ and ‘not yet diagnosed’ rare disease and ultra-rare disease patients. Most importantly, once a diagnosis is reached, if a treatment exists for the disease/gene/variant, one should not have to wait for it to be offered to the patient.”
Image credit: By freepik – freepik.com
