ORPHA:26792
Short chain acyl-CoA dehydrogenase deficiency
Also known as: ACADS deficiency · SCAD deficiency · SCADD
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
574
85.6th percentile
Trials
0
Interventional, condition-specific
Researchers
1,352
Distinct authors in sample
Gene link
ACADS
Definitive
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008722
- MeSH:C537596
- OMIM:201470
- UMLS:C0342783
- NCIT:C84539
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — ACADS
- LiteraturePresent
574 matched papers (316 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 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)
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?
574
574 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.
574 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).
316 in the last 10 years · medium confidence · 85.6th percentile (publications denominator)
Phrase hits: 574 · MeSH hits: 0
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.
- 01Wang 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 - 02Gregersen N7 papers · 2021
Research Unit for Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.
Papers in Europe PMC - 03Li X7 papers · 2026
Department of Children Health Care, Children's Hospital of Nanjing Medical University, Nanjing, China.
Papers in Europe PMC - 04Huang 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 - 05Vockley 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 - 06Li H5 papers · 2025
Infertility Clinic, Center for Reproduction and Genetics, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China.
Papers in Europe PMC - 07Li 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 - 08Zhang Y5 papers · 2025
Medical Laboratory Center, Huzhou Maternity & Child Health Care Hospital, Huzhou, Zhejiang Province, 313000, China.
Papers in Europe PMC - 09Cai R4 papers · 2026
Department of Medical Genetics, Liuzhou Maternal and Child Health Care Hospital, Liuzhou 545001, China.
Papers in Europe PMC - 10Chen 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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
- NCT06773026·RECRUITING·Study of Sodium Phenylbutyrate (ACER-001) for the Treatment of Pediatric and Adults Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
Conditions: Medium-chain Acyl-CoA Dehydrogenase Deficiency·Matched via name phrase
- NCT06623032·RECRUITING·Metabolic Effects of Medium-Chain Fatty Acids in Patients With Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Healthy Individuals
Conditions: Medium-chain Acyl-CoA Dehydrogenase Deficiency·Matched via name phrase
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.
"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)"
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)" OR "ACADS"
Recall-expansion terms: ACADS
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: suspect — strategies attempted: phrase, recall-expansion; 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
Ingested 2026-07-26T23:21:56.531Z