Monitoring program for patients with long-chain fatty acid oxidation disorders

Long-Chain Fatty Acid Oxidation Disorders In-Clinic Disease Monitoring Program (LC-FAOD DMP)

Observational Ultragenyx Pharmaceutical Inc · NCT04632953

This study is testing how safe and effective a treatment called triheptanoin is for people of all ages with long-chain fatty acid oxidation disorders over up to 10 years.

Quick facts

Study typeObservational
Enrollment150 (estimated)
SexAll
SponsorUltragenyx Pharmaceutical Inc Industry-sponsored
Locations16 sites (Phoenix, Arizona and 15 other locations)
Trial IDNCT04632953 on ClinicalTrials.gov

What this trial studies

This program aims to assess the long-term safety and effectiveness of triheptanoin and the natural history of long-chain fatty acid oxidation disorders (LC-FAOD) over a duration of up to 10 years. It includes both retrospective and prospective data collection from adult and pediatric patients diagnosed with any subtype of LC-FAOD. Participants will be managed by their physicians and may or may not receive triheptanoin during the study, depending on availability and approval in their country. The study will gather comprehensive safety data, including outcomes related to pregnancy and lactation.

Who should consider this trial

Good fit: Ideal candidates include individuals with a confirmed diagnosis of any subtype of LC-FAOD who are willing to comply with study procedures.

Not a fit: Patients with concurrent diseases that may interfere with study participation or those at high risk of not completing the study may not benefit from this program.

Why it matters

Potential benefit: If successful, this program could provide valuable insights into the long-term management and safety of patients with LC-FAOD, potentially improving treatment strategies.

How similar studies have performed: While this program is observational and focuses on long-term monitoring, similar studies have shown success in collecting valuable safety and effectiveness data for rare metabolic disorders.

Eligibility criteria

Show full inclusion / exclusion criteria
Inclusion Criteria:

* Confirmed diagnosis of any LC-FAOD subtype. Diagnosis must be confirmed by results of acylcarnitine profiles and/or genetic testing results obtained from medical records or equivalent documentation.
* Willing and able to comply with all study procedures.
* Willing and able to provide consent or, if a minor, provide assent and informed consent by their legally authorized representative.
* Females of childbearing potential who become pregnant during the study will be invited to remain in the study. Pregnant females with LC-FAOD will be informed of the study and invited to enroll.

Exclusion Criteria:

* Presence of a concurrent disease or condition that would interfere with study participation or affect patient's safety in the opinion of the Investigator.
* Presence or history of any condition that, in the view of the Investigator, places the patient at high risk of not completing the study or would affect the interpretation of study results.

Where this trial is running

Phoenix, Arizona and 15 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Long-chain Fatty Acid Oxidation DisordersCACT DeficiencyCarnitine Acylcarnitine Translocase DeficiencyCPT1CPT2Carnitine Palmitoyltransferase DeficienciesVLCADVery Long Chain Acyl Coa Dehydrogenase Deficiency
Last reviewed 2026-06-09 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.