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ORPHA:5

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

low confidenceDisorder

Also known as: LCHAD deficiency · LCHADD · Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Publications

3,791

Trials

7

Interventional, condition-specific

Researchers

1,356

Distinct authors in sample

Gene link

HADHA

Definitive

Readiness

6/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — HADHA

  2. LiteraturePresent

    3,791 matched papers (2,615 in last 10 years) Source

  3. Phenotype characterisedPresent

    32 HPO annotations (e.g. Hypotonia; Global developmental delay; Retinopathy) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationPartial

    3 EMA designations (none yet with FDA orphan-indication approval) — e.g. triheptanoin Source

  6. 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)

32

Associated phenotypes · MONDO:0012173

  • Hypotonia
  • Global developmental delay
  • Retinopathy
  • Chorioretinal atrophy

Showing 4 of 32 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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)

3

Designations · no FDA orphan-indication approval yet

  • EMA triheptanoinTreatment of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency · 28/07/2015 · PositiveEMA designation
  • EMA sodium (4-{(E)-3-(4-fluorophenyl)-3-[4-(3-morpholin-4-yl-prop1ynyl)phenyl]allyloxy}-2-methylphenoxy)acetateTreatment of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency · 21/08/2020 · WithdrawnEMA designation
  • EMA triheptanoinTreatment of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency · 06/12/2012 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

2

Drugs / clinical candidates · MONDO_0012173

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

3,791

3,791 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.

3,791 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).

2,615 in the last 10 years · low confidence

Phrase hits: 799 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,356

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.

  1. 01
    Gillingham MB15 papers · 2026

    Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, United States of America; Biochemical Genetics Laboratory, Mayo Clinic, Rochester, MN, United States of America. Electronic address: gillingm@ohsu.edu.

    Papers in Europe PMC
  2. 02
    Vockley J13 papers · 2026

    School of Medicine, University of Pittsburgh, Pittsburgh, PA 15260, USA.

    Papers in Europe PMC
  3. 03
    Li Y11 papers · 2026

    Department of Endocrinology, Shanghai Fifth People's Hospital, Fudan University, China (X.-M.H., Y.L.).

    Papers in Europe PMC
  4. 04
    Grünert SC10 papers · 2026

    Department of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Centre-University of Freiburg, 79106 Freiburg, Germany.

    Papers in Europe PMC
  5. 05
    Wang Y9 papers · 2026

    Department of Anesthesiology, The First Affiliated Hospital of Wannan Medical University (Yijishan Hospital of Wannan Medical University), Wuhu, China.

    Papers in Europe PMC
  6. 06
    Pennesi ME8 papers · 2025

    Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA.

    Papers in Europe PMC
  7. 07
    Elizondo G7 papers · 2026

    Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, United States of America.

    Papers in Europe PMC
  8. 08
    Harding CO7 papers · 2025

    Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, United States of America.

    Papers in Europe PMC
  9. 09
    Fuchs SA6 papers · 2025

    Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands.

    Papers in Europe PMC
  10. 10
    Gregor A6 papers · 2026

    Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA.

    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 11 September 2026 · last trial check 28 July 2026

7 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.9th percentile).

low confidence · 90.9th 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.

Open the complete matched search on ClinicalTrials.gov

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 2026-07-29

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 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("HADHA" OR "HADHA syndrome" OR "HADHA-related")

Run this search on Europe PMC

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"

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: ok — strategies attempted: phrase; 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
  • Publication count (3791) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T12:03:06.260Z