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New study tracks Long-Term safety of rare disease treatment

NCT ID NCT04632953

Disease control Sponsor: Ultragenyx Pharmaceutical Inc Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing This study
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This 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 understand how the medication triheptanoin works over time.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

150 people

The number who actually took part.

Started

Nov 2021

Expected to finish

Dec 2035

An estimate. End dates often move.

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Approximately 150 patients, either treated or untreated with triheptanoin, will be enrolled for this study.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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.

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Conditions

The condition(s) this trial relates to.

carnitine-acylcarnitine translocase deficiency inherited fatty acid metabolism disorder mitochondrial trifunctional protein deficiency VLCAD deficiency

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Long-chain fatty acid oxidation disorders (LC-faod)

Contacts and locations

Locations

  • Ann & Robert H. Lurie Children's Hospital

    Chicago, Illinois, 60611, United States

  • Boston Children's Hospital

    Boston, Massachusetts, 02215, United States

  • CHEO (Children's Hospital Eastern Ontario)

    Ottawa, Ontario, K1H 8L1, Canada

  • Children's Hospital of Colorado

    Aurora, Colorado, 80045, United States

  • Children's Hospital of Pittsburgh of UPMC

    Pittsburgh, Pennsylvania, 15224, United States

  • Columbia University

    New York, New York, 10032, United States

  • Nationwide Children's Hospital

    Columbus, Ohio, 43205, United States

  • Phoenix Children's Hospital

    Phoenix, Arizona, 85016, United States

  • Seattle Children's Hospital

    Seattle, Washington, 98020, United States

  • SickKids (The Hospital for Sick Children)

    Toronto, Ontario, M5G 1X8, Canada

  • The Emory Clinic

    Atlanta, Georgia, 30322, United States

  • University of Alberta

    Edmonton, Alberta, T6G 1C9, Canada

  • University of California San Francisco

    San Francisco, California, 94158, United States

  • University of Minnesota

    Minneapolis, Minnesota, 55454, United States

  • University of South Florida

    Tampa, Florida, 33606, United States

  • University of Utah

    Salt Lake City, Utah, 84108, United States

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