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THE INFORMATION PROVIDED ON THIS WEBSITE MIGHT BE USED AS A GUIDANCE FOR RESEARCH PURPOSES ONLY AND IT IS NOT INTENDED AS, NOR SHOULD IT BE CONSIDERED, A SUBSTITUTE FOR MEDICAL PROFESSIONAL ADVICE
What is the Treatabolome?
Web Portal
Consists of a web portal for data interrogation at the time of molecular diagnosis about available treatments at the gene/variants levels
Goals
Discover available treatments for rare diseases
Find gene and variant specific treatments
Reduce the patient's treatment odyssey
Treatabolome Database
Seven SLRs
developed as an initial data source for the Treatabolome database
Phase 1
Published Systematic Reviews
All entries currently stored in Treatabolome have been collected in the following published SLRs
- Thompson R, Bonne G, Missier P, Lochmüller H. Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome. Emerg Top Life Sci. 2019 Mar;3(1):19-37. doi: 10.1042/ETLS20180100. Epub 2019 Jan 28. PMID: 30931400; PMCID: PMC6436731., 10.1042/ETLS20180100
- Atalaia A, Ben Yaou R, Wahbi K, De Sandre-Giovannoli A, Vigouroux C, Bonne G. Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'. J Neuromuscul Dis. 2021;8(3):419-439. doi: 10.3233/JND-200596. PMID: 33682723; PMCID: PMC8203247., 10.3233/JND-200596
- Desaphy JF, Altamura C, Vicart S, Fontaine B. Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine. J Neuromuscul Dis. 2021;8(3):357-381. doi: 10.3233/JND-200582. PMID: 33325393; PMCID: PMC8203248., 10.3233/JND-200582
- Manta A, Spendiff S, Lochmüller H, Thompson R. Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'. J Neuromuscul Dis. 2021;8(3):401-417. doi: 10.3233/JND-200621. PMID: 33720849; PMCID: PMC8203237., 10.3233/JND-200621
- Tiet MY, Lin Z, Gao F, Jennings MJ, Horvath R. Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a 'Treatabolome'. J Neuromuscul Dis. 2021;8(6):885-897. doi: 10.3233/JND-210715. PMID: 34308912; PMCID: PMC8673543., 10.3233/JND-210715
- Over L, Brüggemann N, Lohmann K. Therapies for Genetic Forms of Parkinson's Disease: Systematic Literature Review. J Neuromuscul Dis. 2021;8(3):341-356. doi: 10.3233/JND-200598. PMID: 33459660; PMCID: PMC8203229., 10.3233/JND-200598
- Jennings MJ, Lochmüller A, Atalaia A, Horvath R. Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a 'treatabolome'. J Neuromuscul Dis. 2021;8(3):383-400. doi: 10.3233/JND-200546. PMID: 32773395; PMCID: PMC8203235., 10.3233/JND-200546
Contribute to the Database
Your current RD’s data could be part of the Treatabolome DB! You can start a systematic literature review on the RD(s) of your expertise! We are here to help you include your data in the initiative. Please contact us help@treatabolome.org
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