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
Publications
9
24.9th percentile
Trials
2
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — CPT2
- LiteraturePresent
9 matched papers (8 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 trialPresent
2 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: Strong.
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?
9
9 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
9 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).
8 in the last 10 years · high confidence · 24.9th percentile (publications denominator)
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?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 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?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
high confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 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.
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.
"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"
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" OR "CPT2"
Recall-expansion terms: CPT2
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 2 interventional · 0 observational · 1 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion
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
Ingested 2026-07-27T10:06:57.373Z