ORPHA:26793
Very long chain acyl-CoA dehydrogenase deficiency
Also known as: VLCAD deficiency · VLCADD
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
2,013
94th percentile
Trials
9
Interventional, condition-specific
Researchers
1,384
Distinct authors in sample
Gene link
ACADVL
Definitive
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008723
- OMIM:201475
- UMLS:C3887523
- NCIT:C98647
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — ACADVL
- LiteraturePresent
2,013 matched papers (1,293 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
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)
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?
2,013
2,013 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.
2,013 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).
1,293 in the last 10 years · high confidence · 94th percentile (publications denominator)
Phrase hits: 2,013 · MeSH hits: 0
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.
- 01Ferdinandusse 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 - 02Houtkooper 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 - 03Visser G7 papers · 2026
Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
Papers in Europe PMC - 04Vockley J7 papers · 2026
Children's Hospital of Pittsburgh University of Pittsburgh Medical Center Pittsburgh PA USA.
Papers in Europe PMC - 05Langeveld M6 papers · 2026
Department of Endocrinology and Metabolism, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.
Papers in Europe PMC - 06Spiekerkoetter 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 - 07Tajima 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 - 08Yamada 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 - 09Fuchs 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 - 10Halldin 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 27 July 2026
9 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 91.2th percentile).
high confidence · 91.2th 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.
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.
"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"
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" OR "ACADVL"
Recall-expansion terms: ACADVL
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: 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 2026-07-26T23:22:08.186Z