MCADD

Research & clinical trials

The latest MCADD research, emerging therapies, and clinical trials — separated clearly into established knowledge, ongoing research, and experimental work.

  • Clinical trial data verified from ClinicalTrials.gov, EU CTIS, and WHO ICTRP on 2026-08-21.
  • 3 MCADD-specific trials are currently recruiting.
  • Experimental therapies are clearly labelled and are never presented as established treatments.

How to read research

Established

Proven, guideline-backed knowledge — shown on this site with evidence levels A and B.

Ongoing

Clinical trials still in progress. Promising, but not yet proven or approved.

Experimental

Preclinical or early-phase work (evidence D or X). Never presented as an available treatment.

MCADD-specific clinical trials

All trials sourced from the ClinicalTrials.gov, EU CTIS, and WHO ICTRP registries and independently verified on 2026-08-21.

Currently recruiting 3

Recruiting

Metabolic Effects of Medium-Chain Fatty Acids in MCADD

NCT06623032 ↗

Metabolic Effects of Medium-Chain Fatty Acids in Patients With Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Healthy Individuals

Intervention
Medium-Chain Fatty Acid (MCFA); Long-Chain Fatty Acid (LCFA)
Phase
N/A
Population
MCADD patients and healthy individuals
Countries
Denmark
Sites
1
Enrollment
30
Primary endpoints
Ketone bodies

Registry updated:

Recruiting

Sodium Phenylbutyrate (ACER-001) for MCADD

NCT06773026 ↗

Study of Sodium Phenylbutyrate (ACER-001) for the Treatment of Pediatric and Adults Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)

Intervention
Sodium phenylbutyrate
Phase
Phase 2
Population
Pediatric and adult MCADD patients
Countries
United States
Sites
1
Enrollment
24
Primary endpoints
Number of participants with treatment-related adverse events (CTCAE v5.0)

Registry updated:

Recruiting

Health-Related Quality of Life in Children and Adolescents With MCADD

DRKS00032765 ↗

Health-related quality of life in children and adolescents with Medium-chain-acyl-CoA dehydrogenase deficiency (MCADD)

Intervention
KINDL quality-of-life questionnaire + retrospective data analysis (observational)
Phase
N/A
Population
0–18 years, MCADD diagnosed by newborn screening (n=25)
Countries
Germany
Sites
Not stated
Enrollment
25
Primary endpoints
Health-related quality of life (KINDL questionnaire)

Registry updated:

Source: WHO ICTRP (German Clinical Trials Register / DRKS). NOT listed on ClinicalTrials.gov.

Suspended 1

Suspended

Sodium Phenylbutyrate (ACER-001) for MCADD (K304E)

NCT06069375 ↗

Study of Sodium Phenylbutyrate (ACER-001) for the Treatment of Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)

Intervention
Sodium phenylbutyrate
Phase
Phase 2
Population
Pediatric and adult MCADD patients with c.985A>G (K304E) mutation
Countries
United States
Sites
1
Enrollment
24
Primary endpoints
Number of participants with treatment-related adverse events (CTCAE v5.0)

Registry updated:

Completed 3

Completed

Ravicti™ for MCAD with K304E mutation

NCT01881984 ↗

Use of Ravicti™ in Patients With MCAD Deficiency With the 985A>G (K304E) Mutation

Intervention
Ravicti (Glycerol phenylbutyrate)
Phase
Phase 1
Population
MCADD patients with K304E mutation
Countries
United States
Sites
1
Enrollment
4
Primary endpoints
Metabolic stress

Registry updated:

Investigated glycerol phenylbutyrate (Ravicti™) as a chemical chaperone to stabilize the MCAD enzyme in patients with the K304E mutation. Classified as HUMAN PHASE I.

Completed

High Intensity Exercise in Children With MCADD

NCT06796530 ↗
Intervention
Exercise protocol
Phase
N/A
Population
Children with MCADD
Countries
Not specified in registry summary
Sites
Not specified
Enrollment
Not specified
Primary endpoints
Not specified in registry summary

Registry updated:

Completed

MRS Analysis of Muscle Energy Metabolism in MCAD Deficiency

ISRCTN14321657 ↗

Magnetic Resonance Spectroscopy (MRS)-analysis of muscle energy metabolism in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

Intervention
Incremental exercise test + 1H/31P-MRS during exercise
Phase
N/A
Population
Adults >18 years with MCAD deficiency + matched healthy controls (n=16)
Countries
Netherlands
Sites
Not stated
Enrollment
16
Primary endpoints
Muscle energy metabolism (1H/31P-MRS during exercise)

Registry updated:

Source: WHO ICTRP (ISRCTN). NOT listed on ClinicalTrials.gov.

Withdrawn 2

Withdrawn

Triheptanoin for Hypoglycemia Prevention in MCADD

NCT06067802 ↗

Study of Triheptanoin for the Prevention of Hypoglycemia in Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)

Intervention
Triheptanoin
Phase
Phase 2
Population
MCADD patients
Countries
United States
Sites
1
Enrollment
0 (withdrawn before enrollment)
Primary endpoints
Number of participants with treatment-related adverse events

Registry updated:

Withdrawn

Triheptanoin in MCADD

NCT07097311 ↗

Study to Evaluate the Use of Triheptanoin in Patients With Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)

Intervention
Triheptanoin
Phase
Phase 2
Population
MCADD patients
Countries
United States
Sites
1
Enrollment
0 (withdrawn before enrollment)
Primary endpoints
Number of participants with treatment-related adverse events

Registry updated:

Unknown status 1

Status unknown

Fasting Tolerance in MCADD Infants

NCT03761693 ↗

Fasting Tolerance in Patients With Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the First Six Months of Life: an Investigator-initiated Human Pilot-study

Intervention
Fasting test
Phase
N/A
Population
MCADD infants in first 6 months of life
Countries
Netherlands
Sites
1
Enrollment
20
Primary endpoints
Change in blood glucose, plasma free fatty acid concentrations, heart rate

Registry updated:

Status UNKNOWN — this study has not been updated since 2019-05-14. Current status cannot be determined. Do not assume the study is active or recruiting. Registry discrepancy: WHO ICTRP last listed this study as "Recruiting", whereas ClinicalTrials.gov lists the status as "Unknown"; the ICTRP record is stale.

Emerging therapies

Experimental approaches under investigation. None of these is an approved treatment for MCADD.

Sodium phenylbutyrate (ACER-001)

HUMAN PHASE IIExperimental — not approved

A drug being tested in two Phase 2 trials. The idea is that it may act as a "chemical chaperone" to stabilise the misfolded MCAD enzyme, especially the common K304E variant. It is not an approved treatment.

Sodium phenylbutyrate is being investigated as a potential treatment for MCADD. The rationale includes evidence that phenylbutyrate may act as a chemical chaperone to stabilize misfolded MCAD enzyme, particularly for the common K304E variant.

Two Phase 2 trials are active: NCT06773026 (RECRUITING, pediatric and adult MCADD) and NCT06069375 (SUSPENDED, MCADD with K304E mutation).

Glycerol phenylbutyrate (Ravicti™)

HUMAN PHASE I (COMPLETED)Experimental — not approved

A related drug tested as a chaperone therapy in a small, completed Phase 1 trial of 4 participants with the K304E mutation. Not an approved treatment.

Glycerol phenylbutyrate was investigated as a chaperone therapy for MCADD patients with the K304E mutation. The Phase 1 trial (NCT01881984) has been completed with 4 participants.

Triheptanoin

HUMAN PHASE II (WITHDRAWN)Not available via trials

An odd-chain triglyceride that was being studied for preventing hypoglycemia, but both trials were withdrawn before enrolling anyone.

Triheptanoin (an odd-chain triglyceride) was being investigated for prevention of hypoglycemia in MCADD. Two trials (NCT06067802 and NCT07097311) were withdrawn before enrollment.

Gene therapy

INSUFFICIENTLY DOCUMENTED DATANo trials identified

No gene therapy trials for MCADD were identified on ClinicalTrials.gov as of the last verification date.

Insufficiently documented

No gene therapy trials for MCADD were identified on ClinicalTrials.gov as of 2026-08-21.

Recent research areas

Key recent publications identified from the GeneReviews bibliography. Links open PubMed.

Clinical outcomes

Newborn screening

Genotype / phenotype

Pathophysiology

Emergency management

Carnitine

Other relevant trials

Trials identified in the ClinicalTrials.gov search that are not MCADD-specific.

  • NCT05687474Baby Detect: Genomic Newborn ScreeningCompleted
  • NCT03655223Early Check: Expanded Screening in NewbornsActive, not recruiting
  • NCT05910151Selective Screening of Children for Hereditary Metabolic DiseasesStatus unknown
  • NCT02635269Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyStatus unknown
  • NCT04602325Systemic Biomarkers of Brain Injury From HyperammonemiaRecruiting
  • NCT02517307Fatty Acid Oxidation Defects and Insulin SensitivityCompleted