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ORPHA:159

Carnitine-acylcarnitine translocase deficiency

low confidenceDisorder

Also known as: CACT deficiency

Publications

1,422

Trials

1

Interventional, condition-specific

Researchers

1,494

Distinct authors in sample

Gene link

SLC25A20

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the period with severe hypoketotic , , and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and .

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

carnitine-acylcarnitine translocase 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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — SLC25A20

  2. LiteraturePresent

    1,422 matched papers (1,066 in last 10 years) Source

  3. Phenotype characterisedPresent

    56 HPO annotations (e.g. Hepatic steatosis; Seizure; Reduced circulating 6-pyruvoyltetrahydropterin synthase activity) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPartial

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

  6. Interventional trialPresent

    1 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 (SLC25A20).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

56

Associated phenotypes · MONDO:0008918

  • Hepatic steatosis
  • Seizure
  • Reduced circulating 6-pyruvoyltetrahydropterin synthase activity
  • Hypotonia
  • Hepatomegaly

Showing 5 of 56 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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 carnitine-acylcarnitine translocase deficiency · 27/07/2020 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0008918

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,422

1,422 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.

1,422 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).

1,066 in the last 10 years · low confidence

Phrase hits: 403 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,494

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
    Zhang C6 papers · 2026

    Department of Geriatric Medicine, Laboratory of Gerontology and Anti-aging Research, Jinan Clinical Research Center for Geriatric Medicine, Qilu Hospital of Shandong University, Jinan, Shandong 250012, China.

    Papers in Europe PMC
  2. 02
    Zhang Y6 papers · 2026

    Second Department of Neurosurgery, First Affiliated Hospital of Kunming Medical University, Kunming, China.

    Papers in Europe PMC
  3. 03
    Li J5 papers · 2026

    Second Department of Neurosurgery, First Affiliated Hospital of Kunming Medical University, Kunming, China.

    Papers in Europe PMC
  4. 04
    Wang Y5 papers · 2025

    Changzhou Maternity and Child Health Care Hospital, Nanjing Medical University, Changzhou, China.

    Papers in Europe PMC
  5. 05
    Chen M4 papers · 2025

    Neonatal Disease Screening Center, Huaihua City Maternal and Child Health Care Hospital, Huaihua, Hunan Province, China.

    Papers in Europe PMC
  6. 06
    Li S4 papers · 2026

    College of Animal Science and Technology, Shihezi University, Shihezi, Xingjiang 832003, China.

    Papers in Europe PMC
  7. 07
    Li X4 papers · 2026

    Department of Geriatric Medicine, Laboratory of Gerontology and Anti-aging Research, Jinan Clinical Research Center for Geriatric Medicine, Qilu Hospital of Shandong University, Jinan, Shandong 250012, China.

    Papers in Europe PMC
  8. 08
    Wang H4 papers · 2026

    Department of Medical Genetics, Hunan Children's Hospital, Changsha 410007, China.

    Papers in Europe PMC
  9. 09
    Wang J4 papers · 2026

    Department of Surgery and Cancer, Faculty of Medicine, Imperial College London, Hammersmith Hospital Campus, Du Cane Road, London, W12 0NN, UK.

    Papers in Europe PMC
  10. 10
    Yang X4 papers · 2026

    School of Basic Medical Sciences, Jiangxi Medical College, Nanchang University, Nanchang, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 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 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 Carnitine-acylcarnitine translocase 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.

("Carnitine-acylcarnitine translocase deficiency" OR "CACT deficiency") OR ("SLC25A20" OR "SLC25A20 syndrome" OR "SLC25A20-related")

Run this search on Europe PMC

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

"Carnitine-acylcarnitine translocase deficiency" OR "CACT 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: 1 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 (1422) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T12:41:59.170Z