Inherited fatty acid metabolism disorder
MONDO:0037858A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources.
Also known as: disorder of fatty acid metabolism, fatty acid metabolism disorder, inherited fatty acid metabolism disorder, disorder of fat oxidation, disorders of fatty-acid metabolism
21 clinical trials for this condition and its sub-types, 7 tagged with Inherited fatty acid metabolism disorder itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Part of
Sub-types of Inherited fatty acid metabolism disorder
-
Disorder of fatty acid oxidation and ketogenesis 1 trial · 16 incl. sub-types
10 sub-types
- Acyl-CoA dehydrogenase deficiency 0 trials · 12 incl. sub-types Sub-types →
- Carnitine-acylcarnitine translocase deficiency 3 trials
- 3-hydroxy-3-methylglutaric aciduria 1 trial
- 3-hydroxyacyl-CoA dehydrogenase deficiency 1 trial
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 1 trial
- Systemic primary carnitine deficiency disease 1 trial
- Very long chain acyl-CoA dehydrogenase deficiency 1 trial
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 0 trials
- Acyl-CoA dehydrogenase 9 deficiency 0 trials
- Long chain acyl-CoA dehydrogenase deficiency 0 trials
-
Inherited lipoic acid biosynthesis defect 0 trials · 1 incl. sub-types
6 sub-types
- Pyruvate dehydrogenase E3 deficiency 1 trial
- Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 0 trials
- Fatal multiple mitochondrial dysfunctions syndrome 0 trials Sub-types →
- Lipoic acid synthetase deficiency 0 trials
- Lipoyl transferase 1 deficiency 0 trials
- Spasticity-ataxia-gait anomalies syndrome 0 trials
Most studied deeper sub-types
-
New oil therapy could slash Life-Threatening events in kids with rare metabolic disease
Disease control OngoingThis study tests whether triheptanoin, a special oil, can reduce major clinical events (like severe low blood sugar or heart problems) in children with long-chain fatty acid oxidation disorders (LC-FAOD), a rare condition where the body can't break down certain fats for energy. A…
Phase 3 • Sponsor: Ultragenyx Pharmaceutical Inc • Aim: Disease control
Last updated Sep 19, 2026 00:00 UTC
-
Could a urea cycle drug help MCAD patients fast longer?
Disease control PausedThis study tests whether sodium phenylbutyrate, a drug already approved for another condition, can help people with MCAD deficiency (a genetic disorder that affects fat breakdown). About 24 participants aged 10 and older will take the drug for 4 weeks. Researchers will check for …
Phase 2 • Sponsor: Jerry Vockley, MD, PhD • Aim: Disease control
Last updated Jul 08, 2026 00:00 UTC
-
Could a fatty acid drug stop dangerous sugar crashes in rare disease?
Disease control CancelledThis study tests a drug called triheptanoin, already approved for similar conditions, to see if it can prevent dangerously low blood sugar in people with MCADD, a rare inherited disorder. About 24 participants aged 4 and older will take the medication and be monitored for safety …
Phase 2 • Sponsor: Jerry Vockley, MD, PhD • Aim: Disease control
Last updated Jul 04, 2026 00:00 UTC
-
New study tracks Long-Term safety of rare disease treatment
Disease control OngoingThis study follows 150 people with long-chain fatty acid oxidation disorders (LC-FAOD) to check the long-term safety of their treatment, including for pregnant women and their babies. Researchers track serious side effects and disease complications. The goal is to better understa…
Sponsor: Ultragenyx Pharmaceutical Inc • Aim: Disease control
Last updated Jun 27, 2026 13:00 UTC
-
Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC
-
Could a fatty acid drug stop dangerous sugar crashes in rare disease?
Prevention CancelledThis study tests a drug called triheptanoin in 8 adults with MCADD, a rare condition that can cause dangerously low blood sugar. The goal is to see if the drug is safe and can prevent hypoglycemia during fasting. Participants will stay overnight at a hospital for monitoring and b…
Phase 2 • Sponsor: Jerry Vockley, MD, PhD • Aim: Prevention
Last updated Jul 04, 2026 00:00 UTC
-
Scientists track rare liver diseases in kids to unlock clues
Knowledge-focused PausedThis study follows up to 90 children and young adults with mitochondrial liver diseases to learn how these conditions progress over time. Researchers will collect medical data and samples to better understand the diseases and find markers that predict outcomes. The goal is to imp…
Sponsor: Arbor Research Collaborative for Health • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:03 UTC