ORPHA:228308
Carnitine palmitoyl transferase II deficiency, neonatal form
Also known as: CPT2, lethal systemic form · CPT2, neonatal form · CPTII, lethal systemic form · CPTII, neonatal form · Carnitine palmitoyl transferase II deficiency, lethal systemic form · Carnitine palmitoyl transferase deficiency type 2, lethal systemic form · Carnitine palmitoyl transferase deficiency type 2, neonatal form
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
5,824
Trials
0
Interventional, condition-specific
Researchers
114
Distinct authors in sample
Gene link
CPT2
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
The form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem 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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012136
- MeSH:C563463
- OMIM:608836
- UMLS:C1833518
Additional Mondo synonyms (2)
CPT II deficiency, lethal neonatal · carnitine palmitoyl transferase II deficiency, neonatal form
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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — CPT2
- LiteraturePresent
5,824 matched papers (4,526 in last 10 years) Source
- Phenotype characterisedPresent
112 HPO annotations (e.g. Elevated circulating creatine kinase activity; Long-chain dicarboxylic aciduria; Cataract) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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: Strong.
Phenotypes (Monarch / HPO)
112
Associated phenotypes · MONDO:0012136
- Elevated circulating creatine kinase activity
- Long-chain dicarboxylic aciduria
- Cataract
- Hypoplastic toenails
- Long fingers
Showing 5 of 112 — 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)
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?
5,824
5,824 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.
5,824 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).
4,526 in the last 10 years · low confidence
Phrase hits: 9 · MeSH hits: 0
Who's working on it?
114
Distinct author names in 9 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.
- 01Aghajani A1 paper · 2024
Student Research Committee, School of Medicine, Anzali International Campus, Guilan University of Medical Sciences, Rasht, Iran.
Papers in Europe PMC - 02Alberto JM1 paper · 2024
Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy, F-54000, France.
Papers in Europe PMC - 03Alipour M1 paper · 2024
Medical Student, Department of Medicine, Islamic Azad University Tehran Medical Sciences, Iran.
Papers in Europe PMC - 04Amor DJ1 paper · 2025
Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.
Papers in Europe PMC - 05Attarian S1 paper · 2022
Service de Neurologie, FILNEMUS, Hôpital La Timone, CHU de Marseille, 13385 Marseille, France.
Papers in Europe PMC - 06Bahrami A1 paper · 2024
School of Medicine, Kashan University of Medical Science, Kashan, Iran.
Papers in Europe PMC - 07Bar-Ziv A1 paper · 2019
The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.
Papers in Europe PMC - 08Barel O1 paper · 2019
Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Israel.
Papers in Europe PMC - 09Bartoli M1 paper · 2022
INSERM, Marseille Medical Genetics, U1251, Aix-Marseille Université, 13385 Marseille, France.
Papers in Europe PMC - 10Baspinar O1 paper · 2024
Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy, F-54000, France.
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).
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 2026-07-30
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)
- ctis·2024-515059-39-00·Authorised, ongoing·Evaluation of the Efficacy of Valsartan in Slowing Down Aortic Root Dilatation in Children and Young Adults with Marfan-type Heritable Thoracic Aortic Diseases – Valsar-TAD, a randomised, double-blind, placebo-controlled multicentre trial
skipped — LLM skipped (--skip-llm)
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 II deficiency, neonatal form — check Associations / patient organisations on that page.
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.
("Carnitine palmitoyl transferase II deficiency, neonatal form" OR "CPT2, lethal systemic form" OR "CPT2, neonatal form" OR "CPTII, lethal systemic form" OR "CPTII, neonatal form" OR "Carnitine palmitoyl transferase II deficiency, lethal systemic form" OR "Carnitine palmitoyl transferase deficiency type 2, lethal systemic form" OR "Carnitine palmitoyl transferase deficiency type 2, neonatal form" OR "CPT II deficiency, lethal neonatal") OR (MESH:"Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal") OR ("CPT2" OR "CPT2 syndrome" OR "CPT2-related")MeSH descriptor terms unioned into the query: Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Carnitine palmitoyl transferase II deficiency, neonatal form" OR "CPT2, lethal systemic form" OR "CPT2, neonatal form" OR "CPTII, lethal systemic form" OR "CPTII, neonatal form" OR "Carnitine palmitoyl transferase II deficiency, lethal systemic form" OR "Carnitine palmitoyl transferase deficiency type 2, lethal systemic form" OR "Carnitine palmitoyl transferase deficiency type 2, neonatal form" OR "CPT II deficiency, lethal neonatal" OR "Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; 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 (5824) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T10:06:57.373Z