A Study to Determine the Effect of Triheptanoin Compared With Even-Chain MCT on MCEs in Pediatric Patients With LC-FAOD

NCT05933200 | Active Not Recruiting Phase 3 DMC

• 3 other identifiers: UX007-CL3022022-001539-102023-509809-76-00
• Study Type: interventional
• Target: 69
• Locations: 7 countries
• Sites: 15

Brief Summary

The main goal of this study is to evaluate the effects of triheptanoin versus Medium-chain Triglycerides (MCT) on frequency of Major Clinical Events (MCEs).

Conditions

Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)

Keywords

Carnitine Palmitoyl Transferase (CPT) I Deficiency; Carnitine Palmitoyl Transferase (CPT) II Deficiency; Carnitine/acylcarnitine Translocase (CACT) Deficiency; Very Long Chain Acyl-coenzyme A Dehydrogenase (VLCAD) Deficiency; Long-chain 3-hydroxyacyl-coenzyme A Dehydrogenase (LCHAD) Deficiency; Mitochondrial Trifunctional Protein (TFP) Deficiency

Outcome Measures

Primary Outcomes (1)

• Annualized Event Rate of Major Clinical Events (MCEs)

  Up to Year 4

Secondary Outcomes (19)

• Annualized Duration of MCEs

  Up to Year 4

• Annualized Hypoglycemic Event-rate Captured as MCEs and At-home Clinical Events (HCEs)

  Up to Year 4

• Clinical Global Impression of Change [CGI-C] Scale Score

  Up to Year 4

• Change From Baseline in Left Ventricular Ejection Fraction

  Baseline, Up to Year 1

• Change From Baseline in Left Ventricular Systolic Volume

  Baseline, Up to Year 1

Study Arms (2)

Triheptanoin

EXPERIMENTAL

Participants will be given prescriptions for triheptanoin in mL/day, which will be divided into approximately 4 administrations per day, with precise instructions for administration. Triheptanoin will be titrated up to the first 6 weeks of the study. After titration, the dose is to remain stable for the remainder of the Double-blind Treatment Period. Following the Double-blind Treatment Period, open-label triheptanoin will be provided at participants' current dose during an Open Access Period, if no other options to receive trihepatnoin are available locally.

Drug: Triheptanoin

MCT

ACTIVE COMPARATOR

Participants will be given prescriptions for MCT in mL/day, which will be divided into approximately 4 administrations per day, with precise instructions for administration. MCT will be titrated up to the first 6 weeks of the study. After titration, the dose is to remain stable for the remainder of the Double-blind Treatment Period. Following the Double-blind Treatment Period, open-label triheptanoin will be provided at participants' current dose during an Open Access Period, if no other options to receive trihepatnoin are available locally.

Dietary Supplement: MCT Oil

Interventions

Triheptanoin DRUG

Liquid for oral (PO) or enteral feeding tube administration

Also known as: UX007, Dojolvi

Triheptanoin

MCT Oil DIETARY_SUPPLEMENT

Liquid for oral (PO) or enteral feeding tube administration

Also known as: Medium-chain Triglyceride

MCT

Eligibility Criteria

• Age: Up to 17 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• Males and females, from 0 (including newborns) to \< 18 years of age at time of randomization
• Confirmed diagnosis of LC-FAOD
• Have a caregiver(s) willing and able to assist in all applicable study requirements
• Have a legally authorized representative willing and able to provide written informed consent after the nature of the study has been explained and prior to any research-related procedures, and the study participant to be able to provide age-appropriate written assent
• Have ANY ONE of the following significant clinical manifestations of LC-FAOD:
• At least 2 in the prior year, or 3 in the prior 2 years, of severe major episodes of metabolic decompensation (eg, hypoglycemia, rhabdomyolysis, or exacerbation of cardiomyopathy, requiring ER/urgent care unit visits or hospitalizations)
• Recurrent symptomatic hypoglycemia (clinical symptoms of hypoglycemia) requiring intervention
• Susceptibility to hypoglycemia after short periods of fasting (less than 4 to 12 hours, depending on age)
• Evidence of functional cardiomyopathy requiring ongoing medical management or clinical manifestation of heart failure
• Sibling(s) with the same pathogenic variant who presented with MCEs
• Participant with pathogenic variants that are known or suspected to be associated with absent or severely reduced enzyme activity or with severe disease manifestations.
• From the period following informed consent to 5 days after the last dose of study drug, females of childbearing potential and fertile males must consent to use highly effective contraception. If female, agree not to become pregnant. If male, agree not to father a child or donate sperm
• Enrollment in the Main Study of Study UX007-CL302
• Age \> 2 years
• Liver fat content ≥ 2% and \< 20% PDFF as assessed by 1 H-MRS

You may not qualify if:

• Enrolled in a clinical study involving concurrent use of an investigational drug product within 30 days before Screening
• Use of a prohibited medication (eg, valproate products or pancreatic lipase inhibitors) within 30 days before Screening, or unwilling to avoid a prohibited medication or other substance that may confound study objectives
• Treatment with triheptanoin within 60 days of Screening
• History of known hypersensitivity to triheptanoin or MCT or its excipients that, in the judgement of the Investigator, places the subject at increased risk for adverse effects
• Caregiver unwilling or unable to sign informed consent, or release of medical records, or follow study procedures
• Have a diagnosis of pancreatic insufficiency
• Pregnant, breastfeeding, or planning to become pregnant (self or partner) at any time during the study
• Acute or chronic liver disease other than LC-FAOD that presents with increased risk of liver fat (eg, hepatic cirrhosis, viral toxic or drug hepatitis, diabetes mellitus) and/or metabolic syndrome
• Need for anesthesia/sedation to perform liver 1 H-MRS

Sponsors & Collaborators

• Ultragenyx Pharmaceutical Inc: lead

Study Sites (15)

General University Hospital in Prague-GUH (Všeobecná fakultní nemocnice v Praze- VFN)

Prague, 120-08, Czechia

Location

Universitätsklinikum Freiburg

Freiburg im Breisgau, 79106, Germany

Location

Juntendo University Hospital

Bunkyo City, Tokyo, 113-8431, Japan

Location

The Jikei University Hospital

Minato, Tokyo, Japan

Location

Instytut Pomnik-Centrum Zdrowia Dziecka

Warsaw, Masovian Voivodeship, 04-730, Poland

Location

Gdańksi Uniwersytet Medyczny

Gdansk, Pomeranian Voivodeship, 80-952, Poland

Location

King Faisal Specialist Hospital & Research Centre

Riyadh, 11211, Saudi Arabia

Location

Sant Joan de Deu Hospital (SJD)

Barcelona, Esplugues de Llobregat, 08950, Spain

Location

University Hospital Santiago de Compostela

A Coruña, 15706, Spain

Location

University Hospital 12 de Octubre

Madrid, 28041, Spain

Location

Cukurova University

Adana, Turkey (Türkiye)

Location

Gazi University

Ankara, Turkey (Türkiye)

Location

Ege University

Bornova-İzmir, Turkey (Türkiye)

Location

Istanbul Universitesi Istanbul Tip Fakultesi Hastanesi

Istanbul, 34093, Turkey (Türkiye)

Location

Cerrahpasa Medical Faculty

Istanbul, 34116, Turkey (Türkiye)

Location

Related Links

• Ultragenyx Patient Advocacy/LC-FAOD Disease Information
• Ultragenyx Transparency Commitment

MeSH Terms

Conditions

VLCAD deficiency

Interventions

triheptanoin

Study Officials

• Medical Director

  Ultragenyx Pharmaceutical Inc

  STUDY DIRECTOR

Study Design

• Study Type: interventional
• Phase: phase 3
• Allocation: RANDOMIZED
• Masking: QUADRUPLE
• Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 27, 2023
• First Posted: July 6, 2023
• Study Start: February 28, 2023
• Primary Completion (Estimated): August 1, 2027
• Study Completion (Estimated): August 1, 2027
• Last Updated: January 13, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share

Locations

ES (3); JP (2); PL (2); DE (1); TU (5); CZ (1); SA (1)