ORPHA:5
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Also known as: LCHAD deficiency · LCHADD · Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
799
89.6th percentile
Trials
7
Interventional, condition-specific
Researchers
1,242
Distinct authors in sample
Gene link
HADHA
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood of hypoketotic , , liver disease, and, frequently, cardiac involvement with arrhythmias and/or .
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:0012173
- OMIM:609016
- UMLS:C3711645
- NCIT:C129929
Additional Mondo synonyms (4)
HELLP syndrome, maternal, of pregnancy · fatty liver, acute, of pregnancy · long chain 3-hydroxyacyl-CoA dehydrogenase deficiency · long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
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 — HADHA
- LiteraturePresent
799 matched papers (468 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
7 matched on ClinicalTrials.gov
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 (HADHA).
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?
799
799 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=5449) is 41.
799 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).
468 in the last 10 years · high confidence · 89.6th percentile (publications denominator)
Phrase hits: 799 · MeSH hits: 0
Who's working on it?
1,242
Distinct author names in 200 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.
- 01Gillingham MB17 papers · 2026
Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR, USA. Electronic address: gillingm@ohsu.edu.
Papers in Europe PMC - 02Vockley J12 papers · 2026
Department of Pediatrics, School of Medicine, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Papers in Europe PMC - 03Grünert SC10 papers · 2026
Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Centre-University of Freiburg, Faculty of Medicine, Freiburg, Germany.
Papers in Europe PMC - 04Harding CO9 papers · 2025
Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR, USA.
Papers in Europe PMC - 05Pennesi ME9 papers · 2025
Casey Eye Institute, Oregon Health & Science University, Portland, Oregon. Electronic address: pennesim@ohsu.edu.
Papers in Europe PMC - 06Elizondo G7 papers · 2026
Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, United States of America.
Papers in Europe PMC - 07Fuchs SA6 papers · 2025
Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands.
Papers in Europe PMC - 08Gregor A6 papers · 2026
Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA.
Papers in Europe PMC - 09
- 10Karall D6 papers · 2025
Department of Pediatrics I, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
7
interventional trials for this specific condition
7 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
7 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89.9th percentile).
high confidence · 89.9th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
7 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Observational and natural-history studies
3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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.
"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency" OR "LCHAD deficiency" OR "LCHADD" OR "Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency" OR "HELLP syndrome, maternal, of pregnancy" OR "HELLP syndrome, maternal, of the pregnancy" OR "fatty liver, acute, of pregnancy" OR "fatty liver, acute, of the pregnancy"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency" OR "LCHAD deficiency" OR "LCHADD" OR "Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency" OR "HELLP syndrome, maternal, of pregnancy" OR "HELLP syndrome, maternal, of the pregnancy" OR "fatty liver, acute, of pregnancy" OR "fatty liver, acute, of the pregnancy" OR "HADHA"
Recall-expansion terms: HADHA
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: 7 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
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 2026-07-26T12:03:06.260Z