NCT04632953

Brief Summary

The primary objective of this study is to assess the long-term safety, including pregnancy, infant, and lactation outcomes, of patients with LC-FAOD who are enrolled in the DMP.

Trial Health

78
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
150

participants targeted

Target at P50-P75 for all trials

Timeline
116mo left

Started Nov 2021

Longer than P75 for all trials

Geographic Reach
2 countries

16 active sites

Status
active not recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress32%
Nov 2021Dec 2035

First Submitted

Initial submission to the registry

November 9, 2020

Completed
8 days until next milestone

First Posted

Study publicly available on registry

November 17, 2020

Completed
1 year until next milestone

Study Start

First participant enrolled

November 30, 2021

Completed
14 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2035

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2035

Last Updated

March 6, 2026

Status Verified

March 1, 2026

Enrollment Period

14 years

First QC Date

November 9, 2020

Last Update Submit

March 4, 2026

Conditions

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

Keywords

CACT DeficiencyCarnitine Acylcarnitine Translocase DeficiencyCPT1CPT2Carnitine Palmitoyltransferase DeficienciesVLCADVery Long Chain Acyl Coa Dehydrogenase DeficiencyLCHAD DeficiencyLong-chain 3-hydroxyacyl-CoA Dehydrogenase DeficiencyTFP DeficiencyTrifunctional Protein Deficiency

Outcome Measures

Primary Outcomes (5)

  • Long-Term Safety of Patients With LC-FAOD as Assessed by Incidence, Severity, and Frequency of Serious Adverse Events (SAEs) and Adverse Events (AEs) in Pregnant and Lactating Patients with LC-FAOD

    10 Years

  • Long-Term Safety of Patients With LC-FAOD as Assessed by Outcomes of Pregnancy in Patients with LC-FAOD

    10 Years

  • Long-Term Safety of Patients With LC-FAOD as Assessed by Incidence, Frequency, and Severity of SAEs and AEs During the First Year of Life in Infants Born to Study Participants

    10 Years

  • Long-Term Safety of Patients With LC-FAOD as Assessed by Incidence of SAEs Assessed as Related to Triheptanoin Treatment by Study Investigator

    10 Years

  • Long-Term Safety of Patients With LC-FAOD as Assessed by Incidence of All Colon Cancer or Gastrointestinal (GI) Cancer, GI Dysplasia, and GI Neoplasia, SAEs and AEs Reported for All Patients With LC-FAOD

    10 Years

Secondary Outcomes (24)

  • Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Major Clinical Events (MCEs)

    10 Years

  • Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by At-Home Clinical Events (HCEs)

    10 Years

  • Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Mortality

    10 Years

  • Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Height

    10 Years

  • Long-Term Effectiveness of Triheptanoin in Patients With LC-FAOD as Assessed by Weight

    10 Years

  • +19 more secondary outcomes

Study Arms (3)

Cohort 1: Previously Treated with Triheptanoin

Patients who have been previously treated with triheptanoin in clinical studies: UX007-CL201 (NCT01886378), UX007-CL202 (NCT02214160), UX007-CL302 (2022-001539-10), Investigator Sponsored Trials (ISTs), or UX007-EAP (NCT03773770).

Other: No Intervention

Cohort 2: Currently or Previously Treated with Triheptanoin

New patients enrolling into the DMP currently or previously treated with triheptanoin (excluding those in Cohort 1).

Other: No Intervention

Cohort 3: Triheptanoin Naïve

New patients enrolling into the DMP with no exposure to triheptanoin (naïve).

Other: No Intervention

Interventions

No InterventionOTHER

No Intervention

Cohort 1: Previously Treated with TriheptanoinCohort 2: Currently or Previously Treated with TriheptanoinCohort 3: Triheptanoin Naïve

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

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

You may qualify if:

  • 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.

You may not qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (16)

Phoenix Children's Hospital

Phoenix, Arizona, 85016, United States

Location

University of California San Francisco

San Francisco, California, 94158, United States

Location

Children's Hospital of Colorado

Aurora, Colorado, 80045, United States

Location

University of South Florida

Tampa, Florida, 33606, United States

Location

The Emory Clinic

Atlanta, Georgia, 30322, United States

Location

Ann & Robert H. Lurie Children's Hospital

Chicago, Illinois, 60611, United States

Location

Boston Children's Hospital

Boston, Massachusetts, 02215, United States

Location

University of Minnesota

Minneapolis, Minnesota, 55454, United States

Location

Columbia University

New York, New York, 10032, United States

Location

Nationwide Children's Hospital

Columbus, Ohio, 43205, United States

Location

Children's Hospital of Pittsburgh of UPMC

Pittsburgh, Pennsylvania, 15224, United States

Location

University of Utah

Salt Lake City, Utah, 84108, United States

Location

Seattle Children's Hospital

Seattle, Washington, 98020, United States

Location

University of Alberta

Edmonton, Alberta, T6G 1C9, Canada

Location

CHEO (Children's Hospital Eastern Ontario)

Ottawa, Ontario, K1H 8L1, Canada

Location

SickKids (The Hospital for Sick Children)

Toronto, Ontario, M5G 1X8, Canada

Location

Related Links

MeSH Terms

Conditions

Carnitine-Acylcarnitine Translocase DeficiencyVLCAD deficiencyTrifunctional Protein Deficiency With Myopathy And Neuropathy

Study Officials

  • Medical Director

    Ultragenyx Pharmaceutical Inc

    STUDY DIRECTOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

November 9, 2020

First Posted

November 17, 2020

Study Start

November 30, 2021

Primary Completion (Estimated)

December 1, 2035

Study Completion (Estimated)

December 1, 2035

Last Updated

March 6, 2026

Record last verified: 2026-03

Locations

CA(3)US(13)