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ORPHA:156

Carnitine palmitoyl transferase 1A deficiency

low confidenceDisorder

Also known as: CPT1A deficiency · Carnitine palmitoyl transferase IA deficiency · Hepatic carnitine palmitoyl transferase 1 deficiency · Hepatic carnitine palmitoyl transferase I deficiency · L-CPT1 deficiency · L-CPTI deficiency

Publications

11,712

Trials

1

Interventional, condition-specific

Researchers

1,225

Distinct authors in sample

Gene link

CPT1A

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic and risk of liver failure.

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 (9)

CPT1A disorder of carnitine cycle and carnitine transport · Carnitine Palmitoyltransferase 1A Deficiency · carnitine palmitoyl transferase 1A deficiency · carnitine palmitoyl transferase IA deficiency · carnitine palmitoyltransferase I deficiency · cpt deficiency, hepatic, type IA · disorder of carnitine cycle and carnitine transport caused by mutation in CPT1A · hepatic carnitine palmitoyl transferase 1 deficiency · hepatic carnitine palmitoyl transferase I 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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — CPT1A

  2. LiteraturePresent

    11,712 matched papers (9,872 in last 10 years) Source

  3. Phenotype characterisedPresent

    46 HPO annotations (e.g. Muscle weakness; Elevated circulating hepatic transaminase concentration; Hyporeflexia) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  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 (CPT1A).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

46

Associated phenotypes · MONDO:0009705

  • Muscle weakness
  • Elevated circulating hepatic transaminase concentration
  • Hyporeflexia
  • Feeding difficulties
  • Dicarboxylic aciduria

Showing 5 of 46 — 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)

1

Designation · no FDA orphan-indication approval yet

  • EMA triheptanoinTreatment of carnitine palmitoyltransferase I deficiency · 13/11/2020 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0009705

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

11,712

11,712 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.

11,712 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).

9,872 in the last 10 years · low confidence

Phrase hits: 270 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,225

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 Y21 papers · 2026

    Beijing Anzhen Hospital, Capital Medical University, Beijing Institute of Heart Lung and Blood Vessel Diseases, The Key Laboratory of Remodeling-Related Cardiovascular Diseases, Ministry of Education, Beijing 100029, China.

    Papers in Europe PMC
  2. 02
    Liu Y19 papers · 2026

    Shanghai Lung Cancer Center, Shanghai Chest Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

    Papers in Europe PMC
  3. 03
    Wang Y15 papers · 2026

    Beijing Key Laboratory of Clinical-Based Innovative Drug R&D of Traditional Chinese Medicine, Beijing, PR China.

    Papers in Europe PMC
  4. 04
    Zhang Y15 papers · 2026

    Department of Anesthesiology, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi 710004, China.

    Papers in Europe PMC
  5. 05
    Liu X11 papers · 2026

    Beijing Institute of Clinical Pharmacy, Beijing Friendship Hospital, Capital Medical University, Beijing, PR China.

    Papers in Europe PMC
  6. 06
    Wang X11 papers · 2026

    Key Laboratory of Genetic Networks, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China.

    Papers in Europe PMC
  7. 07
    Li J10 papers · 2026

    Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.

    Papers in Europe PMC
  8. 08
    Liu J10 papers · 2026

    School of Chinese Materia Medica, Beijing University of Chinese Medicine, Beijing 100029, China.

    Papers in Europe PMC
  9. 09
    Wang K9 papers · 2026

    Department of Cardiology, Heart Center, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, China.

    Papers in Europe PMC
  10. 10
    Li X8 papers · 2026

    Clinical Laboratory of Integrative Medicine, The First Affiliated Hospital of Dalian Medical University, Dalian, People's Republic of 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

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 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 Carnitine palmitoyl transferase 1A 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 palmitoyl transferase 1A deficiency" OR "CPT1A deficiency" OR "Carnitine palmitoyl transferase IA deficiency" OR "Hepatic carnitine palmitoyl transferase 1 deficiency" OR "Hepatic carnitine palmitoyl transferase I deficiency" OR "L-CPT1 deficiency" OR "L-CPTI deficiency" OR "CPT1A disorder of carnitine cycle and carnitine transport" OR "CPT1A disorder of the carnitine cycle and carnitine transport" OR "Carnitine Palmitoyltransferase 1A Deficiency" OR "carnitine palmitoyltransferase I deficiency" OR "cpt deficiency, hepatic, type IA" OR "disorder of carnitine cycle and carnitine transport caused by mutation in CPT1A" OR "disorder of the carnitine cycle and carnitine transport caused by mutation in CPT1A") OR ("CPT1A" OR "CPT1A syndrome" OR "CPT1A-related")

Run this search on Europe PMC

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

"Carnitine palmitoyl transferase 1A deficiency" OR "CPT1A deficiency" OR "Carnitine palmitoyl transferase IA deficiency" OR "Hepatic carnitine palmitoyl transferase 1 deficiency" OR "Hepatic carnitine palmitoyl transferase I deficiency" OR "L-CPT1 deficiency" OR "L-CPTI deficiency" OR "CPT1A disorder of carnitine cycle and carnitine transport" OR "CPT1A disorder of the carnitine cycle and carnitine transport" OR "Carnitine Palmitoyltransferase 1A Deficiency" OR "carnitine palmitoyltransferase I deficiency" OR "cpt deficiency, hepatic, type IA" OR "disorder of carnitine cycle and carnitine transport caused by mutation in CPT1A" OR "disorder of the carnitine cycle and carnitine transport caused by mutation in CPT1A"

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 · 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

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 (11712) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T12:40:51.299Z