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
73
50.5th percentile
Trials
1
Interventional, condition-specific
Researchers
457
Distinct authors in sample
Gene link
LRPPRC
Definitive
Readiness
3/6
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — LRPPRC
- LiteraturePresent
73 matched papers (42 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
1 matched on ClinicalTrials.gov (1 recruiting in sample)
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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
73
73 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
73 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
42 in the last 10 years · high confidence · 50.5th percentile (publications denominator)
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?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 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?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07337551·NOT YET RECRUITING·Gossypol Acetate + FOLFIRI + Bev in mCRC With TP53-Mutant and LRPPRC Positive
Conditions: Patients With Metastatic Colorectal Cancer Who Were TP53-mutant and LRPPRC-positive and Had Previously Failed Prior First-line Treatment·Matched via recall expansion
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
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)"
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" OR "LRPPRC"
Recall-expansion terms: LRPPRC
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion
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
Ingested 2026-07-27T01:30:41.412Z