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ORPHA:26792

Short chain acyl-CoA dehydrogenase deficiency

low confidenceDisorder

Also known as: ACADS deficiency · SCAD deficiency · SCADD

Publications

2,771

Trials

0

Interventional, condition-specific

Researchers

1,352

Distinct authors in sample

Gene link

ACADS

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with , , , and .

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 (6)

SCAD · Short Chain Acyl CoA Dehydrogenase Deficiency · acyl-CoA dehydrogenase, short-chain deficiency · short chain acyl-CoA dehydrogenase deficiency · short-chain acyl-CoA dehydrogenase deficiency (SCAD) · short-chain acyl-Coenzyme A dehydrogenase deficiency (SCAD)

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.”

5/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — ACADS

  2. LiteraturePresent

    2,771 matched papers (1,928 in last 10 years) Source

  3. Phenotype characterisedPresent

    44 HPO annotations (e.g. Failure to thrive; Metabolic acidosis; Seizure) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPartial

    None under the specific name; 11 for broader category acyl-CoA dehydrogenase deficiency

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 (ACADS).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

44

Associated phenotypes · MONDO:0008722

  • Failure to thrive
  • Metabolic acidosis
  • Seizure
  • Lethargy
  • Abnormal facial shape

Showing 5 of 44 — 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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,771

2,771 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.

2,771 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).

1,928 in the last 10 years · low confidence

Phrase hits: 574 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,352

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Wang Y8 papers · 2025

    School of Computer Science and Technology, Harbin Institute of Technology, Harbin, 150001, People's Republic of China. ydwang@hit.edu.cn.

    Papers in Europe PMC
  2. 02
    Gregersen N7 papers · 2021

    Research Unit for Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.

    Papers in Europe PMC
  3. 03
    Li X7 papers · 2026

    Department of Children Health Care, Children's Hospital of Nanjing Medical University, Nanjing, China.

    Papers in Europe PMC
  4. 04
    Huang X6 papers · 2026

    Department of Genetics and Metabolism, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.

    Papers in Europe PMC
  5. 05
    Vockley J6 papers · 2023

    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, USA; Division of Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, USA; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, USA.

    Papers in Europe PMC
  6. 06
    Li H5 papers · 2025

    Infertility Clinic, Center for Reproduction and Genetics, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China.

    Papers in Europe PMC
  7. 07
    Li Y5 papers · 2024

    Medical Genetics and Prenatal Diagnosis Center, Guangxi Academy of Medical Sciences and the People’s Hospital of Guangxi Zhuang Autonomous Region , ,

    Papers in Europe PMC
  8. 08
    Zhang Y5 papers · 2025

    Medical Laboratory Center, Huzhou Maternity & Child Health Care Hospital, Huzhou, Zhejiang Province, 313000, China.

    Papers in Europe PMC
  9. 09
    Cai R4 papers · 2026

    Department of Medical Genetics, Liuzhou Maternal and Child Health Care Hospital, Liuzhou 545001, China.

    Papers in Europe PMC
  10. 10
    Chen D4 papers · 2024

    Key Laboratory of Prevention and Control of Birth Defects, Department of Medical Genetics, Newborn Screening Center, Liuzhou Maternity and Child Health Care Hospital, Liuzhou Institute for Reproduction and Genetics, Affiliated Maternity Hospital and Affiliated Children's Hospital of Guangxi University of Science and Technology, Liuzhou, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 11 trials are registered for acyl-CoA dehydrogenase deficiency, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

11 interventional trials matched acyl-CoA dehydrogenase deficiency, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: acyl-CoA dehydrogenase deficiency

11

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 Short 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.

("Short chain acyl-CoA dehydrogenase deficiency" OR "ACADS deficiency" OR "SCAD deficiency" OR "SCADD" OR "Short Chain Acyl CoA Dehydrogenase Deficiency" OR "acyl-CoA dehydrogenase, short-chain deficiency" OR "short-chain acyl-CoA dehydrogenase deficiency (SCAD)" OR "short-chain acyl-Coenzyme A dehydrogenase deficiency (SCAD)") OR ("ACADS" OR "ACADS syndrome" OR "ACADS-related")

Run this search on Europe PMC

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

"Short chain acyl-CoA dehydrogenase deficiency" OR "ACADS deficiency" OR "SCAD deficiency" OR "SCADD" OR "Short Chain Acyl CoA Dehydrogenase Deficiency" OR "acyl-CoA dehydrogenase, short-chain deficiency" OR "short-chain acyl-CoA dehydrogenase deficiency (SCAD)" OR "short-chain acyl-Coenzyme A dehydrogenase deficiency (SCAD)"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"acyl-CoA dehydrogenase deficiency"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: SCAD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (2771) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T23:21:56.531Z