Leigh syndrome

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Information
Disease name
Leigh syndrome
Disease ID
Description
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
MTRFR 12 123,248,278 123,257,031 4
GFM2 5 74,721,258 74,767,105 4
SURF1 9 133,351,758 133,356,487 4
GYG2 X 2,828,822 2,882,818 2
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT02352896 Completed Phase 2 Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome January 31, 2014 October 30, 2023
NCT01721733 Completed Phase 2 Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome October 31, 2012 May 31, 2015
NCT04378075 Completed Phase 2/Phase 3 A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy September 28, 2020 December 27, 2023
NCT02544217 Completed Phase 1 A Dose-escalating Clinical Trial With KH176 May 2015 October 2015
NCT05554835 Recruiting Global Registry and Natural History Study for Mitochondrial Disorders February 1, 2009 December 2040
NCT01793168 Recruiting Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford July 2010 December 2100
NCT03137355 Recruiting The International Registry for Leigh Syndrome June 17, 2015 June 17, 2030
NCT05277363 Withdrawn A Study of the Natural Course of SURF1 Deficiency May 4, 2022 May 4, 2022
NCT03747328 Withdrawn Phase 2 ABI-009 (Nab-sirolimus) in Patients With Genetically-confirmed Leigh or Leigh-like Syndrome April 30, 2022 March 31, 2025
OrphaNumber from OrphaNet (Orphanet)
506