ORPHA:70472
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Also known as: COX deficiency, French-Canadian type · Cytochrome C oxidase deficiency, French-Canadian type · Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type · Leigh syndrome, French-Canadian type · Leigh syndrome, Saguenay-Lac-Saint-Jean type · SLSJ-COX deficiency
Publications
2,525
Trials
0
Interventional, condition-specific
Researchers
457
Distinct authors in sample
Gene link
LRPPRC
Definitive
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A rare degenerative disease characterized by chronic , , facial dysmorphism and delayed development.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009069
- MeSH:C537004
- OMIM:220111
- UMLS:C1857355
Additional Mondo synonyms (4)
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type · cytochrome C oxidase deficiency, French-Canadian type · cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type · mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
4/6 stages with a signal
No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.
- Gene identifiedPresent
Definitive — LRPPRC
- LiteraturePresent
2,525 matched papers (2,061 in last 10 years) Source
- Phenotype characterisedPresent
115 HPO annotations (e.g. Spasticity; Poor speech; Dysphagia) Source
- Animal modelPresent
1 genotype model (Danio rerio) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (LRPPRC).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
115
Associated phenotypes · MONDO:0009069
- Spasticity
- Poor speech
- Dysphagia
- Dyskinesia
- Inability to walk
Showing 5 of 115 — open Monarch for the full list.
Animal models (Monarch / Alliance)
1
Model associations linked to this Mondo ID
- lrpprcmn0235Gt/mn0235Gt·ZFIN:ZDB-FISH-250605-1·Danio rerio
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
2,525
2,525 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
2,525 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
2,061 in the last 10 years · low confidence
Phrase hits: 73 · MeSH hits: 3
Who's working on it?
457
Distinct author names in 73 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01
- 02Barrientos A5 papers · 2026
Department of Neurology, University of Miami Miller School of Medicine, 1600 NW 10th Ave., Miami, FL 33136, USA.
Papers in Europe PMC - 03Laprise C5 papers · 2025
Département des sciences fondamentales, Université du Québec à Chicoutimi, Chicoutimi, Québec, Canada catherine.laprise@uqac.ca.
Papers in Europe PMC - 04
- 05Zou J5 papers · 2014
Center for Cancer and Stem Cell Biology, Institute of Biosciences and Technology, Texas A&M Health Science Center, Houston, Texas, United States of America; Jiangxi Research Institute of Ophthalmology and Visual Sciences, The Affiliated Eye Hospital of Nanchang University, Nanchang, Jiangxi, China.
Papers in Europe PMC - 06Bouchard L4 papers · 2025
Département de biochimie et de génomique fonctionnelle, Université de Sherbrooke, Sherbrooke, Québec, Canada.
Papers in Europe PMC - 07Fontanesi F4 papers · 2026
Department of Biochemistry and Molecular Biology, University of Miami Miller School of Medicine, 1600 NW 10th Avenue, RMSB #7094B, Miami, FL 33136, USA. Electronic address: ffontanesi@med.miami.edu.
Papers in Europe PMC - 08Liu L4 papers · 2014
Center for Cancer Biology and Nutrition, Institute of Biosciences and Technology, Texas A&M University System Health Science Center, Houston, Texas 77030, USA.
Papers in Europe PMC - 09Ahn A3 papers · 2026
Department of Biochemistry and Molecular Biology, University of Miami Miller School of Medicine, 1600 NW 10th Ave., Miami, FL 33136, USA.
Papers in Europe PMC - 10Brischigliaro M3 papers · 2026
Department of Neurology, University of Miami Miller School of Medicine, 1600 NW 10th Ave., Miami, FL 33136, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
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.
("Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type" OR "COX deficiency, French-Canadian type" OR "Cytochrome C oxidase deficiency, French-Canadian type" OR "Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type" OR "Leigh syndrome, French-Canadian type" OR "Leigh syndrome, Saguenay-Lac-Saint-Jean type" OR "SLSJ-COX deficiency" OR "mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)") OR (MESH:"Leigh syndrome , French Canadian type") OR ("LRPPRC" OR "LRPPRC syndrome" OR "LRPPRC-related")MeSH descriptor terms unioned into the query: Leigh syndrome , French Canadian type
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type" OR "COX deficiency, French-Canadian type" OR "Cytochrome C oxidase deficiency, French-Canadian type" OR "Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type" OR "Leigh syndrome, French-Canadian type" OR "Leigh syndrome, Saguenay-Lac-Saint-Jean type" OR "SLSJ-COX deficiency" OR "mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)" OR "Leigh syndrome , French Canadian type"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (2525) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T01:30:41.412Z