ORPHA:228302
Carnitine palmitoyl transferase II deficiency, myopathic form
Also known as: Carnitine palmitoyl transferase II deficiency, adult-onset form · Carnitine palmitoyl transferase deficiency type 2, adult-onset form · Carnitine palmitoyl transferase deficiency type 2, myopathic form · CPT2, adult-onset form · CPT2, myopathic form · CPTII, adult-onset form · CPTII, myopathic form
Clinical definition (Orphanet)
The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency.
How rare: How common this is has not been clearly measured.
Is anyone studying this?
4
4 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=183) is 38.
4 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
4 in the last 10 years · high confidence · 20.5th percentile (publications denominator)
Is a treatment being tested?
2
trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 26 July 2026
2 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 74.7th percentile).
high confidence · 74.7th percentile (trials denominator)
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Who's working on it?
56
Distinct author names in 4 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.
- 01Alberto JM1 paper · 2024
Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy, F-54000, France.
Papers in Europe PMC - 02Alfadhel M1 paper · 2019
Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh 11426, Saudi Arabia. dralfadhelm@gmail.com.
Papers in Europe PMC - 03Almannai M1 paper · 2019
Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh 11525, Saudi Arabia. malmannai@kfmc.med.sa.
Papers in Europe PMC - 04Attarian S1 paper · 2022
Service de Neurologie, FILNEMUS, Hôpital La Timone, CHU de Marseille, 13385 Marseille, France.
Papers in Europe PMC - 05Bartoli M1 paper · 2022
INSERM, Marseille Medical Genetics, U1251, Aix-Marseille Université, 13385 Marseille, France.
Papers in Europe PMC - 06Baspinar O1 paper · 2024
Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy, F-54000, France.
Papers in Europe PMC - 07Biancalana V1 paper · 2022
Laboratoire de Diagnostic Génétique CHU de Strasbourg, 67091 Strasbourg, France.
Papers in Europe PMC - 08Blasi F1 paper · 2023
Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.
Papers in Europe PMC - 09Bonne G1 paper · 2022
Centre de Recherche en Myologie, Institut de myologie, Sorbonne Université, Inserm, 75013 Paris, France.
Papers in Europe PMC - 10Bourdain CA1 paper · 2022
Service Biochimie et Biologie Moléculaire Grand Est-UM Maladies Héréditaires du Métabolisme, HCL, 69002 Lyon, France.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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.
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.
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 below but are not added to the query string.
"Carnitine palmitoyl transferase II deficiency, myopathic form" OR "Carnitine palmitoyl transferase II deficiency, adult-onset form" OR "Carnitine palmitoyl transferase deficiency type 2, adult-onset form" OR "Carnitine palmitoyl transferase deficiency type 2, myopathic form" OR "CPT2, adult-onset form" OR "CPT2, myopathic form" OR "CPTII, adult-onset form" OR "CPTII, myopathic form" OR "CPT II deficiency, myopathic, stress-induced"
MeSH descriptor terms unioned into the query: Carnitine Palmitoyltransferase II Deficiency, Late-Onset
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Carnitine palmitoyl transferase II deficiency, myopathic form" OR "Carnitine palmitoyl transferase II deficiency, adult-onset form" OR "Carnitine palmitoyl transferase deficiency type 2, adult-onset form" OR "Carnitine palmitoyl transferase deficiency type 2, myopathic form" OR "CPT2, adult-onset form" OR "CPT2, myopathic form" OR "CPTII, adult-onset form" OR "CPTII, myopathic form" OR "CPT II deficiency, myopathic, stress-induced" OR "Carnitine Palmitoyltransferase II Deficiency, Late-Onset" OR "carnitine palmitoyltransferase II deficiency" OR "carnitine palmitoyl transferase 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: 2 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C563461 OMIM:255110 UMLS:C1833508
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