Special issue of the Journal of Neuromuscular Diseases is devoted to the Treatabolome, designed to shorten diagnosis-to-treatment time for patients with rare diseases
In 2019, as part of the European Solve-RD project, Hanns Lochmüller, Gisèle Bonne and Rachel Thompson launched the Treatabolome, an initiative designed to extract details of effective treatments for rare diseases from the scientific literature and make them accessible through an online database that aims to allow patients to receive the right treatment for their condition as soon as they receive a genetic diagnosis.
The process of extracting reliable treatment information from scientific publications begins with a systematic review of the literature for each disease area to ensure that all the published information is captured. The Lochmüller Lab’s original systematic review of congenital myasthenic syndromes provided a comprehensive overview of the treatments available for these rare but often highly treatable diseases, which are one of our lab’s main focus areas.
This month, an open-access special issue of the Journal of Neuromuscular Diseases dedicated to the Treatabolome has been published. It includes six systematic reviews contributed by experts on rare neurological disorders, summarising the literature on each disease group and linking treatments with genotype and causative variants. Thanks to the team at CNAG in Barcelona behind the RD-Connect Genome-Phenome Analysis Platform, the data is also being transformed into an online database to be launched later this summer, which is intended to reduce treatment delays for patients with rare diseases by directly linking diagnosis and treatment information.
You can find Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a ‘Treatabolome’ here.
Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a ‘Treatabolome’.
Manta A, Spendiff S, Lochmüller H, Thompson R.
J Neuromuscul Dis. 2021;8(3):401-417.
Access the special issue of the Journal of Neuromuscular Diseases here.
Read the press release about the Treatabolome special issue here.