RecruitingNot applicableNCT06623032
Metabolic
MCAD Deficiency
Also known as Medium-chain acyl-CoA dehydrogenase deficiency, ACADM deficiency, medium-chain fatty acid oxidation defect
MCAD deficiency is the most common fatty acid oxidation disorder, caused by mutations in the ACADM gene encoding medium-chain acyl-CoA dehydrogenase, which is required for mitochondrial oxidation of medium-chain fatty acids. During fasting
ORPHA:42 ↗Gene ACADMPrevalence 1-5 per 10,000 (Orphanet)Onset Infantile, ChildhoodAutosomal recessive genetic
3
studies recruiting now
as of 7 Sept 2026
14
studies registered in total
as of 7 Sept 2026
2
countries with a recruiting site
as of 7 Sept 2026
14 Jan 2025
most recent study posted
among recruiting studies
Recruiting trials
RecruitingPhase 2NCT06773026
Study of Sodium Phenylbutyrate (ACER-001) for the Treatment of Pediatric and Adults Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
RecruitingNCT04602325
Systemic Biomarkers of Brain Injury From Hyperammonemia
Showing the 3 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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About MCAD Deficiency
MCAD deficiency is the most common fatty acid oxidation disorder, caused by mutations in the ACADM gene encoding medium-chain acyl-CoA dehydrogenase, which is required for mitochondrial oxidation of medium-chain fatty acids. During fasting or metabolic stress, patients cannot produce ketones from fatty acids, leading to hypoketotic hypoglycemia, encephalopathy, and potentially fatal metabolic crises. Newborn screening has dramatically reduced mortality; most patients identified by screening do well with fasting avoidance.
Common clinical features
Hypoketotic hypoglycemiaEncephalopathy during fasting or illnessLethargy and vomitingHepatomegalyElevated liver transaminasesSudden death (pre-newborn-screening era)Fatty infiltration of liver
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
3 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 2Sodium Phenylbutyrate (Ambutyrate)
Phase 2Triheptanoin (Dojolvi)
Phase 2Phenylbutyrate Sodium
Before you apply
Things trial teams commonly ask about for MCAD Deficiency. Not eligibility rules; those are set by each study.
- Newborn screening detection is now near-universal in developed countries — document screening card results and ACADM variant classification
- C8 (octanoylcarnitine) level on acylcarnitine profile is the primary diagnostic biomarker
- Most trials focus on natural history, outcomes research, and emergency protocol optimization rather than pharmacological intervention
- Patients with documented metabolic crises despite fasting avoidance are the primary population for interventional 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).