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

August 26, 2020 updated by: Ultragenyx Pharmaceutical Inc

A Retrospective Chart Review Study to Assess the Clinical Outcome of Triheptanoin Treatment in Patients With Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) Treated Under Expanded Access Program

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed Description

The study is a retrospective chart review of patients in the USA with LC-FAOD who received triheptanoin via eIND request from their metabolic or treating physician before 01 September 2018. Participating study sites will provide the medical records of subjects who meet eligibility criteria, and relevant data regarding the trigger event (the reason the patient was placed on triheptanoin) and key details about hospitalizations during the study period will be extracted.

Study Type

Observational

Enrollment (Actual)

20

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • California
      • Los Angeles, California, United States, 90027
        • Children's Hospital of Los Angeles
      • Los Angeles, California, United States, 90027
        • Kaiser Permanente
      • Orange, California, United States, 92868
        • Children's Hospital of Orange County
      • Palo Alto, California, United States, 94304
        • Stanford University
    • Connecticut
      • New Haven, Connecticut, United States, 06511
        • Yale University
    • District of Columbia
      • Washington, District of Columbia, United States, 20010
        • Children's National Hospital
    • Florida
      • Tampa, Florida, United States, 33606
        • University of South Florida
    • Georgia
      • Atlanta, Georgia, United States, 30322
        • Emory University
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
        • Boston Children's Hospital
    • Minnesota
      • Minneapolis, Minnesota, United States, 55455
        • University of Minnesota Masonic Children's Hospital
    • North Carolina
      • Durham, North Carolina, United States, 27710
        • Duke University
    • Oregon
      • Portland, Oregon, United States, 97239
        • Oregon Health and Science University
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Children's Hospital of Philadelphia
      • Pittsburgh, Pennsylvania, United States, 15224
        • UPMC Children's Hospital of Pittsburgh
    • Washington
      • Seattle, Washington, United States, 98105
        • Seattle Children's Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

N/A

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Medical records of patients in the USA with LC-FAOD who received triheptanoin via eIND request from their metabolic or treating physician before 01 September 2018.

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Retrospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Patients treated with triheptanoin
Patients with LC-FAOD treated with triheptanoin before 01 September 2018 under eIND
Other: No Intervention
This is a non-interventional retrospective medical record review study. No study investigational product will be administered in this protocol.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Duration of Hospitalization for Trigger Event
Time Frame: Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment
Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment
Disposition on Discharge of Trigger Event
Time Frame: Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment
Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment
Duration of Important Interventions for Trigger Event
Time Frame: Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment
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
Time Frame: Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment
Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment

Secondary Outcome Measures

Outcome Measure
Time Frame
Duration of Hospitalization for Other Major Clinical Events
Time Frame: Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment
Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment
Disposition on Discharge of Other Major Clinical Events
Time Frame: Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment
Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment
Number of Important Medical Interventions for Other Major Clinical Events
Time Frame: Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment
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 Other Major Clinical Events
Time Frame: Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment
Up to 48 Weeks Prior to and 48 Weeks After the Start of Triheptanoin Treatment

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Ultragenyx Pharmaceutical Inc

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 30, 2019

Primary Completion (Actual)

June 8, 2020

Study Completion (Actual)

June 8, 2020

Study Registration Dates

First Submitted

December 5, 2018

First Submitted That Met QC Criteria

December 5, 2018

First Posted (Actual)

December 7, 2018

Study Record Updates

Last Update Posted (Actual)

August 28, 2020

Last Update Submitted That Met QC Criteria

August 26, 2020

Last Verified

August 1, 2020

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • UX007-CL003

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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