CompletedNot Applicable

Clinical Outcome of Triheptanoin Treatment in Patients With Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) Treated Under Expanded Access Program

United States20 participantsStarted 2019-01-30

Plain-language summary

The primary objective of the study is to evaluate the clinical outcomes for the trigger event of patients who receive triheptanoin in the emergency Investigational New Drug (eIND) program.

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * Male or female patients of any age with confirmed diagnosis of one of the LC-FAOD disorders including: mitochondrial trifunctional protein (TFP) deficiency, carnitine palmitoyltransferase deficiencies (CPT I and CPT II), very long chain acyl-CoA dehydrogenase (VLCAD) deficiency, long-chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) deficiency, and carnitine acylcarnitine translocase (CATR) deficiency * Treatment initiation with triheptanoin was via eIND before 01 September 2018 * Treated with triheptanoin in the USA * Willing and able to provide written, signed informed consent, or where appropriate for subjects under the age of 18, or provide written assent and written informed consent by a legally authorized representative after the nature of the study has been explained and prior to any research-related procedures. To obtain and review medical records of deceased individuals, informed consent from next of kin or appropriate legal entity will be obtained, as applicable. Exclusion Criteria: * Unwilling to sign informed consent or assent to release of medical records

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Duration of Hospitalization for Trigger Event

Timeframe: Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment

Disposition on Discharge of Trigger Event

Timeframe: Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment

Duration of Important Interventions for Trigger Event

Timeframe: Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment

Number of Critical Medical Assessments Related to LC-FAOD for Trigger Event

Timeframe: Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment

Trial details

NCT IDNCT03768817

SponsorUltragenyx Pharmaceutical Inc

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2020-06-08

View on ClinicalTrials.gov More Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) trials

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

Duration of Hospitalization for Trigger Event

Timeframe: Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment

Disposition on Discharge of Trigger Event

Timeframe: Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment

Duration of Important Interventions for Trigger Event

Timeframe: Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment

Number of Critical Medical Assessments Related to LC-FAOD for Trigger Event

Timeframe: Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment