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ORPHA:26793

Very long chain acyl-CoA dehydrogenase deficiency

high confidenceDisorder

Also known as: VLCAD deficiency · VLCADD

Publications

4,796

92.8th percentile

Trials

9

Interventional, condition-specific

Researchers

1,384

Distinct authors in sample

Gene link

ACADVL

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of long-chain fatty acid oxidation with a variable presentation including: , hypoketotic , liver disease, exercise intolerance and rhabdomyolysis.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

VLCAD · Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD) · acyl-CoA dehydrogenase, very long-chain deficiency · very long chain acyl-CoA dehydrogenase deficiency · very long-chain acyl-CoA dehydrogenase deficiency · very long-chain acyl-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 — ACADVL

  2. LiteraturePresent

    4,796 matched papers (3,308 in last 10 years) Source

  3. Phenotype characterisedPresent

    68 HPO annotations (e.g. Small for gestational age; Patent foramen ovale; Hypoketotic hypoglycemia) Source

  4. Animal modelPresent

    5 genotype models (Mus musculus) Source

  5. Orphan designationPartial

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

  6. Interventional trialPresent

    9 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 (ACADVL).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

68

Associated phenotypes · MONDO:0008723

  • Small for gestational age
  • Patent foramen ovale
  • Hypoketotic hypoglycemia
  • Hypothermia
  • Elevated circulating hepatic transaminase concentration

Showing 5 of 68 — open Monarch for the full list.

Animal models (Monarch / Alliance)

5

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)

1

Designation · no FDA orphan-indication approval yet

  • EMA triheptanoinTreatment of very long-chain acyl-CoA dehydrogenase deficiency · 19/06/2015 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

4

Drugs / clinical candidates · MONDO_0008723

CTD chemicals (MyDisease.info)

1 associated chemical · 14 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Bezafibrate · therapeutic

Pathways: Fatty acid degradation; Metabolic pathways; Fatty acid metabolism; beta-Oxidation; Metabolism; XBP1(S) activates chaperone genes; IRE1alpha activates chaperones; Unfolded Protein Response (UPR)

MyDisease.info · MONDO:0008723

Literature

Is anyone studying this?

4,796

4,796 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.

4,796 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).

3,308 in the last 10 years · high confidence · 92.8th percentile (publications denominator)

Phrase hits: 2,013 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,384

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
    Ferdinandusse S8 papers · 2026

    Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Gastroenterology and Metabolism, Amsterdam, The Netherlands.

    Papers in Europe PMC
  2. 02
    Houtkooper RH7 papers · 2025

    Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Gastroenterology and Metabolism, Amsterdam, The Netherlands.

    Papers in Europe PMC
  3. 03
    Visser G7 papers · 2026

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

    Papers in Europe PMC
  4. 04
    Vockley J7 papers · 2026

    Children's Hospital of Pittsburgh University of Pittsburgh Medical Center Pittsburgh PA USA.

    Papers in Europe PMC
  5. 05
    Langeveld M6 papers · 2026

    Department of Endocrinology and Metabolism, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.

    Papers in Europe PMC
  6. 06
    Spiekerkoetter U6 papers · 2026

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

    Papers in Europe PMC
  7. 07
    Tajima G6 papers · 2026

    Division of Neonatal Screening, National Center for Child Health and Development, Research Institute, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan.

    Papers in Europe PMC
  8. 08
    Yamada K6 papers · 2022

    Department of Pediatrics, Shimane University Faculty of Medicine, 89-1, En-ya-cho, Izumo, Shimane 693-8501, Japan.

    Papers in Europe PMC
  9. 09
    Fuchs SA5 papers · 2026

    Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Lundlaan 6, 3584 EA, Utrecht, The Netherlands. s.fuchs@umcutrecht.nl.

    Papers in Europe PMC
  10. 10
    Halldin M5 papers · 2025

    Department of Women's and Children's Health, Karolinska Institutet, 171 76 Stockholm, Sweden.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

9

interventional trials for this specific condition

9 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

9 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92th percentile).

high confidence · 92th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

9 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

2 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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).

Uncertain / not reviewed (1)

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 Very long chain acyl-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.

("Very long chain acyl-CoA dehydrogenase deficiency" OR "VLCAD deficiency" OR "VLCADD" OR "VLCAD" OR "Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)" OR "acyl-CoA dehydrogenase, very long-chain deficiency" OR "very long-chain acyl-CoA dehydrogenase deficiency" OR "very long-chain acyl-Coenzyme A dehydrogenase deficiency") OR ("ACADVL" OR "ACADVL syndrome" OR "ACADVL-related")

Run this search on Europe PMC

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

"Very long chain acyl-CoA dehydrogenase deficiency" OR "VLCAD deficiency" OR "VLCADD" OR "VLCAD" OR "Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)" OR "acyl-CoA dehydrogenase, very long-chain deficiency" OR "very long-chain acyl-CoA dehydrogenase deficiency" OR "very long-chain acyl-Coenzyme A dehydrogenase deficiency"

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: 9 interventional · 2 observational · 1 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

Ingested 2026-07-26T23:22:08.186Z