Treatabolome project designed to shorten the time from diagnosis to treatment for patients with rare diseases


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The Treatabolome project is a research initiative to develop an interoperable, open-access online platform dedicated to disseminating information about the specific treatment of rare genes and diseases to healthcare professionals, regardless of their level of expertise. Developed under the European research project Solve-RD, it aims to reduce delays in the treatment of patients with rare diseases by directly linking diagnostic and treatment information. This initiative is very relevant for neuromuscular disorders, as by definition they are rare diseases. In this special issue of the Journal of Neuromuscular Diseases, experts provide systematic reviews of literature on metabolic feeding on rare neurological and neuromuscular disorders.

In Europe, rare diseases are defined as those that affect one in two thousand individuals or less. Although they are rare individually, they affect around 6% of the population worldwide. Collectively, healthcare providers deal with a considerable number of patients with rare diseases , more than 70% of which are genetically determined. Historically, about 25% of patients with rare diseases have suffered a diagnostic odyssey that can last up to 30 years, according to Eurordis, an alliance of more than 900 patient organizations working 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, specific new and frequent treatments appear after decades of waiting expectancy on the part of patients, their families, and caregivers. To offer these treatments to patients conveniently, it is now necessary to relate diagnosis and treatment consistently.

“The Treatabolome project arises from the improved availability of genetic diagnosis and the growing number of treatments for rare diseases,” explained guest editor Gisèle Bonne, Ph.D., Sorbonne Université, Inserm, Institut de Myologie, Center de Research in Myology, Paris, France. “There are treatments available for a growing number of rare diseases, but there is often a substantial delay before patients receive the right treatment. Although currently specific treatments are only available for a minority of patients with rare diseases, recent developments point to a sharp 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. “

This EU project includes four European reference networks or ERNs: ERN-RND for rare neurological diseases; Euro-NMD ERN for rare neuromuscular diseases; ERN-ITHACA for rare congenital malformations and syndromes with intellectual and other neurodevelopmental disorders; and ERN-GENTURIS for patients with one of the rare tumor risk genetic syndromes.

The special issue deals with the specific treatments of genes and variants for rare neurological and neuromuscular disorders, highlighting the important premise that an accurate genetic diagnosis can lead to an equally accurate therapeutic approach. It includes systematic reviews of leading international centers representing a concentration of expertise in rare diseases involved in the production of literature reviews on tractabolom feeding, covering:

  • Genetic forms of Parkinson’s disease
  • Ionic canalopathies of skeletal muscle
  • Hereditary peripheral neuropathies
  • Metabolic myopathies related to glycogen storage and lipid metabolism
  • Laminopathies

The issue also includes a review of the underlying mechanisms of the disease, possible therapeutic approaches, and the readiness of trials in future clinical trials of facioscapulohumeral muscular dystrophy (FSHD).

The intention is that as the Treatabolome platform is completed, the main data set will be derived from systematic reviews of literature led by experts such as those published in the current issue. They provide state-of-the-art evidence-based information in a standardized format that is FAIR-compatible and easily loadable into the Treatabolome database.

“When combined with diagnostic support tools such as RD-Connect genome-phenomenon analysis platform (GPAP), the Treatabolome avoids delays in the onset of treatment, “noted Dr. Bonne.” Put meat content on the bones of the platform “.

One of the next steps in the Treatabolome project will be to expand it to experts in rare diseases from the 24 European reference networks and the entire scientific community, producing other data sets to enrich the database and facilitate treatment awareness for . The project is also exploring artificial intelligence (AI) pathways for future database updates involving machine-directed text mining of publications to improve the life cycle of the information displayed in the database. of data.

“The main challenges are to involve all significant groups of rare diseases to produce the Treatabolome datasets of their experience, ensure an annual life cycle to update this information and find continued funding to ensure the sustainability of the platform Treatabolome, “said Dr. Good. “In addition, research on the automated updating of AI-based information is critical to the long-term sustainability of the platform.”

“We must strive to work towards a world with fewer patients with rare and as yet undiagnosed diseases” not yet diagnosed ”and“ not yet diagnosed. ”Most importantly, once the diagnosis is reached, if there is a treatment for in the disease / gene / variant, it should not be expected to be offered to the patient, ”he concluded.

The unprecedented exchange of data that generates new diagnoses of rare diseases in Europe

More information: … illnesses-usculars / 8/3

Citation: Treatabolome Project Designed to Shorten Diagnostic Time to Treatment for Patients with Rare Diseases (2021, June 1) Retrieved June 2, 2021 at -diagnosis-to-treatment-patients-rare.html

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