Rare Daily Staff

The Treatabolome, a project developed under the Solve-RD European Research Project, seeks to reduce treatment delays for patients with rare diseases by directly linking diagnosis and treatment information through an online platform disseminating rare disease and gene-specific treatment information to healthcare professionals.

In an effort to feed this emerging platform, the Journal of Neuromuscular Diseases has created a special issue featuring systematic literature reviews on rare neurological and neuromuscular disorders.

In Europe, rare diseases are defined as those that affect one in two thousand individuals or fewer. Although they are individually rare, globally they affect around 6 percent of the population. Collectively, healthcare providers deal with a considerable number of patients with a rare disease, over 70 percent of which are genetically determined. Historically, around 25 percent of patients with rare diseases have endured a diagnostic odyssey that can last up to 30 years, according to Eurordis, an alliance of more than 900 patient organizations that work together to improve the lives of people living with a rare disease.

Next generation sequencing has made it possible to efficiently diagnose a growing number of rare diseases. At the same time, new and frequently specific treatments are emerging following decades of expectant wait by patients, their families, and caretakers. To deliver such treatments to patients in an expedient manner, diagnosis and treatment now need to be linked consistently.

“The Treatabolome project arises from the improved availability of genetic diagnosis and the rapidly growing number of rare disease treatments,” said Journal of Neuromuscular DiseasesGuest Editor Gisèle Bonne, Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, Paris, France. “There are treatments available for an increasing number of rare diseases, but there is often a substantial delay before patients receive the right treatment. Although targeted treatments are currently only available to a minority of patients with rare diseases, recent developments point towards a steep increase in the coming years, as suggested by the development of multiple gene therapies and the steady increase in the number of orphan drug applications.”

The special issue covers gene and variant-specific treatments for rare neurological and neuromuscular disorders, highlighting the important premise that a precise genetic diagnosis may result in an equally precise therapeutic approach. It includes systematic reviews from leading international centers representing a concentration of rare disease expertise involved in producing Treatabolome-feeding literature reviews.

The intention is that as the Treatabolome platform is finalized, the main body of data will be derived from expert-led systematic literature reviews such as those published in the current issue. They bring state-of-the-art, evidence-based information in a standardized format that is FAIR-compatible and easily uploadable to the Treatabolome database.

“When combined with diagnosis support tools like RD-Connect’s Genome-Phenome Analysis Platform (GPAP), the Treatabolome prevents treatment-onset delays,” noted Bonne. “It puts flesh of content onto the bones of the platform.”

One of the next steps of the Treatabolome project will be to extend it to rare diseases experts from all 24 European Reference Networks and the whole scientific community, producing other datasets to enrich the database and facilitate treatment awareness for rare diseases. The project is also exploring artificial intelligence pathways for the future updates of the database that involve machine-led text mining of publications to improve the life cycle of the information displayed in the database.

“The main challenges are involving all significant rare disease groups to produce the Treatabolome datasets of their expertise, guaranteeing a yearly life cycle for updating that information, and finding continued funds to ensure the sustainability of the Treatabolome platform,” said Bonne. “Additionally, research on automated information update relying on AI is fundamental for long-term platform sustainability.”

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