RecruitingNCT04602325
Metabolic
Carnitine Palmitoyltransferase Deficiency
Also known as CPT deficiency, CPT1 deficiency, CPT2 deficiency, carnitine palmitoyltransferase I/II deficiency
Carnitine palmitoyltransferase (CPT) deficiencies are fatty acid oxidation disorders caused by mutations in CPT1A or CPT2 genes, impairing the transport of long-chain fatty acids into mitochondria for energy production. CPT1 deficiency prim
ORPHA:157 ↗Gene CPT1AGene CPT2Prevalence 1-9 per 1,000,000 (Orphanet)Onset Neonatal, Infantile, AdultAutosomal recessive genetic
1
studies recruiting now
as of 7 Sept 2026
17
studies registered in total
as of 7 Sept 2026
1
countries with a recruiting site
as of 7 Sept 2026
26 Oct 2020
most recent study posted
among recruiting studies
Recruiting trials
Showing the 1 most recently updated recruiting study, as recorded 7 Sept 2026. Live status on each study page.
Search all Carnitine Palmitoyltransferase Deficiency studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
Keep watching
Get an email when a new Carnitine Palmitoyltransferase Deficiency study opens.
One email a day at most. Unsubscribe with one click.
Used only for these alerts. Privacy.
Support
Patient organisations
Registry: FOD Patient Registry · Join ↗. Registries connect patients to researchers and often hear about trials first.
About Carnitine Palmitoyltransferase Deficiency
Carnitine palmitoyltransferase (CPT) deficiencies are fatty acid oxidation disorders caused by mutations in CPT1A or CPT2 genes, impairing the transport of long-chain fatty acids into mitochondria for energy production. CPT1 deficiency primarily affects the liver, causing hypoketotic hypoglycemia; CPT2 deficiency has multiple forms ranging from lethal neonatal disease to an adult-onset muscle form causing exercise-induced rhabdomyolysis. Management involves avoidance of prolonged fasting and high-fat diets.
Common clinical features
Hypoketotic hypoglycemiaHepatomegalyExercise-induced rhabdomyolysisMyalgiaCardiomyopathyRenal failureEncephalopathy
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
1 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 3Bezafibrate (Bezagen xl)
Before you apply
Things trial teams commonly ask about for Carnitine Palmitoyltransferase Deficiency. Not eligibility rules; those are set by each study.
- Specify CPT1 versus CPT2 deficiency — they are distinct biochemically and clinically, and trials are subtype-specific
- Acylcarnitine profile (elevated C16, C18 in CPT2) on plasma tandem mass spectrometry is a required biomarker
- Creatine kinase level and urine myoglobin are key biomarkers for muscle-type CPT2 deficiency trials
- Fasting tolerance testing and triglyceride levels are required for hepatic CPT1 trials
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).