Leigh syndrome

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Leigh syndrome" OR "Infantile subacute necrotizing encephalopathy" OR "Leigh disease" OR "Leigh syndrome spectrum" OR "Leigh's disease"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Leigh syndrome" OR "Infantile subacute necrotizing encephalopathy" OR "Leigh disease" OR "Leigh syndrome spectrum" OR "Leigh's disease" OR "ADAR" OR "AIFM1" OR "ATP5MK" OR "BCS1L" OR "BTD" OR "CLPB" OR "COQ9" OR "COX10" OR "COX15" OR "COX4I1" OR "COX8A" OR "COXFA4" OR "DLAT" OR "DLD" OR "DNM1L" OR "EARS2" OR "ECHS1" OR "ETHE1" OR "FARS2" OR "FBXL4" OR "FOXRED1" OR "GFM1" OR "GFM2" OR "GTPBP3" OR "HIBCH" OR "HPDL" OR "IARS2" OR "KGD4" OR "LIAS" OR "LIPT1" OR "LONP1" OR "LRPPRC" OR "MECR" OR "MFF" OR "MORC2" OR "MRPS34" OR "MT-ATP6" OR "MT-CO1" OR "MT-CO2" OR "MT-CO3" OR "MT-ND1" OR "MT-ND2" OR "MT-ND3" OR "MT-ND4" OR "MT-ND5" OR "MT-ND6" OR "MT-TI" OR "MT-TK" OR "MT-TL1" OR "MT-TL2" OR "MT-TV" OR "MT-TW" OR "MTFMT" OR "MTRFR" OR "NARS2" OR "NAXE" OR "NDUFA1" OR "NDUFA10" OR "NDUFA12" OR "NDUFA13" OR "NDUFA2" OR "NDUFA3" OR "NDUFA9" OR "NDUFAF2" OR "NDUFAF4" OR "NDUFAF5" OR "NDUFAF6" OR "NDUFAF8" OR "NDUFB8" OR "NDUFC2" OR "NDUFS1" OR "NDUFS2" OR "NDUFS3" OR "NDUFS4" OR "NDUFS7" OR "NDUFS8" OR "NDUFV1" OR "NDUFV2" OR "NUBPL" OR "NUP62" OR "OPA1" OR "PDHA1" OR "PDHB" OR "PDHX" OR "PDSS2" OR "PET100" OR "PET117" OR "PNPT1" OR "POLG" OR "PTCD3" OR "RANBP2" OR "RNASEH1" OR "SCO2" OR "SDHA" OR "SDHAF1" OR "SERAC1" OR "SLC19A3" OR "SLC25A19" OR "SLC25A4" OR "SLC25A46" OR "SLC39A8" OR "SQOR" OR "SSBP1" OR "SUCLA2" OR "SUCLG1" OR "SURF1" OR "TACO1" OR "TARS2" OR "TIMMDC1" OR "TPK1" OR "TRMU" OR "TSFM" OR "TTC19" OR "UQCRQ" OR "VPS13D"

Recall-expansion terms: ADAR, AIFM1, ATP5MK, BCS1L, BTD, CLPB, COQ9, COX10, COX15, COX4I1, COX8A, COXFA4, DLAT, DLD, DNM1L, EARS2, ECHS1, ETHE1, FARS2, FBXL4, FOXRED1, GFM1, GFM2, GTPBP3, HIBCH, HPDL, IARS2, KGD4, LIAS, LIPT1, LONP1, LRPPRC, MECR, MFF, MORC2, MRPS34, MT-ATP6, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TV, MT-TW, MTFMT, MTRFR, NARS2, NAXE, NDUFA1, NDUFA10, NDUFA12, NDUFA13, NDUFA2, NDUFA3, NDUFA9, NDUFAF2, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB8, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, NUP62, OPA1, PDHA1, PDHB, PDHX, PDSS2, PET100, PET117, PNPT1, POLG, PTCD3, RANBP2, RNASEH1, SCO2, SDHA, SDHAF1, SERAC1, SLC19A3, SLC25A19, SLC25A4, SLC25A46, SLC39A8, SQOR, SSBP1, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TIMMDC1, TPK1, TRMU, TSFM, TTC19, UQCRQ, VPS13D

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 15 interventional · 16 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: LS; LSS

Confidence reasoning

• Preferred label is short or not clearly distinctive
• 2 synonym(s) dropped by stoplist (may under-count)
• No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T14:05:15.981Z