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ORPHA:157

Carnitine palmitoyltransferase II deficiency

medium confidenceDisorder

Also known as: CPT2 · CPTII · Carnitine palmitoyltransferase deficiency type 2

Publications

6,141

94.4th percentile

Trials

4

Interventional, condition-specific

Researchers

1,365

Distinct authors in sample

Gene link

CPT2

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited disorder that affects oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe form and a form.

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 (2)

CPT II deficiency · carnitine palmitoyltransferase II 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 — CPT2

  2. LiteraturePresent

    6,141 matched papers (4,711 in last 10 years) Source

  3. Phenotype characterisedPresent

    225 HPO annotations (e.g. Elevated circulating creatine kinase activity; Long-chain dicarboxylic aciduria; Cataract) 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

    4 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 (CPT2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

225

Associated phenotypes · MONDO:0015515

  • Elevated circulating creatine kinase activity
  • Long-chain dicarboxylic aciduria
  • Cataract
  • Hypoplastic toenails
  • Long fingers

Showing 5 of 225 — 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 palmitoyltransferase II deficiency · 28/07/2015 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

4

Drugs / clinical candidates · MONDO_0015515

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

6,141

6,141 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

6,141 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).

4,711 in the last 10 years · medium confidence · 94.4th percentile (publications denominator)

Phrase hits: 797 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,365

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
    Li J8 papers · 2026

    Department of Orthopedics, The Eighth Affiliated Hospital ,Sun Yat-Sen University, Shenzhen, China.

    Papers in Europe PMC
  2. 02
    Zierz S7 papers · 2022

    Department of Neurology, Martin-Luther-University Halle-Wittenberg, Ernst-Grube-Str. 40, 06120 Halle/Saale, Germany. stephan.zierz@uk-halle.de.

    Papers in Europe PMC
  3. 03
    Li Y6 papers · 2026

    The First Affiliated Hospital, Anhui University of Chinese Medicine, Hefei, China.

    Papers in Europe PMC
  4. 04
    Yamaguchi S6 papers · 2020

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

    Papers in Europe PMC
  5. 05
    Carmon KS5 papers · 2026

    Center for Translational Cancer Research, The Brown Foundation Institute of Molecular Medicine, University of Texas Health Science Center at Houston, Houston, TX 77030, USA; The University of Texas MD Anderson Cancer Center, UTHealth Houston Graduate School of Biomedical Sciences, Houston, TX 77030, USA. Electronic address: Kendra.S.Carmon@uth.tmc.edu.

    Papers in Europe PMC
  6. 06
    Kobayashi H5 papers · 2026

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

    Papers in Europe PMC
  7. 07
    Tajima G5 papers · 2026

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

    Papers in Europe PMC
  8. 08
    Wang H5 papers · 2026

    Department of Gastroenterology, Tangdu Hospital, The Air Force Medical University, Xi'an, China.

    Papers in Europe PMC
  9. 09
    Wang J5 papers · 2026

    The Verna and Marrs McLean Department of Biochemistry and Molecular Pharmacology, Baylor College of Medicine, Houston, Texas 77030, United States.

    Papers in Europe PMC
  10. 10
    Yamada K5 papers · 2020

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

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 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

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

medium confidence · 88.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

4 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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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 (3)

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 palmitoyltransferase II 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 palmitoyltransferase II deficiency" OR "CPTII" OR "Carnitine palmitoyltransferase deficiency type 2" OR "CPT II deficiency") OR ("CPT2" OR "CPT2 syndrome" OR "CPT2-related")

Run this search on Europe PMC

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

"Carnitine palmitoyltransferase II deficiency" OR "CPTII" OR "Carnitine palmitoyltransferase deficiency type 2" OR "CPT II 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: 4 interventional · 2 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

Synonyms dropped by stoplist: CPT2

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 2026-07-26T12:41:12.765Z