Decrease the time from diagnosis to the start of the treatment with Treatabolome

The creation of an open platform drawing up an inventory of all existing treatments for rare genetic diseases, including neuromuscular diseases, is one of the objectives of the European Solve-RD project, which fights diagnostic delay. This platform, better known as the “Treatabolome”, should give clinicians better visibility and knowledge of the treatments available depending on the gene and / or variant involved in the disease, and to start treatment more quickly when the patient’s gene based diagnosis has been realized.  


Literature reviews 

The Treatabolome is powered by data from systematic reviews of the literature by experts in these diseases. The data are collected according to a methodology known as “FAIR” (Findable, Accessible, Interoperable and Reusable). They will thus allow to guide the onset of treatments for patients whose cause, that is the genetic variant, has been identified. A first systematic review in congenital myasthenic syndromes including 207 studies with more than 1000 patients was used as a reference. A methodological guide to help carry out systematic reviews adapted to the Treatabolome then enabled the publication of other reviews, in laminopathies and muscular channelopathies (notably involving the Institute of Myology), hereditary peripheral neuropathies of Charcot-Marie. -Tooth and metabolic myopathies including glycogenoses… 


The Treatabolome, an emerging concept. Bonne G. J Neuromuscul Dis. 2021. 8(3):337-339.


A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome. Atalaia A, Thompson R, Corvo A et al. Orphanet J Rare Dis. 2020 (Août).15(1):206.


Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome. Thompson R, Bonne G, Missier P, Lochmüller H. Emerg Top Life Sci. 2019 (Mars). 3(1):19-37.


Laminopathies’ Treatments Systematic Review: A Contribution Towards a ‘Treatabolome’. Atalaia A, Ben Yaou R, Wahbi K et al. J Neuromuscul Dis. 2021. 8(3):419-439.


Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a ‘treatabolome’. Jennings MJ, Lochmüller A, Atalaia A, Horvath R. J Neuromuscul Dis. 2021. 8(3):383-400.


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.


Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine. Desaphy JF, Altamura C, Vicart S, Fontaine B. J Neuromuscul Dis. 2021. 8(3):357-381.


Therapies for Genetic Forms of Parkinson’s Disease: Systematic Literature Review. Over L, Brüggemann N, Lohmann K. J Neuromuscul Dis. 2021. 8(3):341-356.