Anaplerotic Therapy Using Triheptanoin for Patients With Glycogen Storage Disease Type I

• Register: ClinicalTrials.gov
• Last refreshed on: 27 December 2021
• Main ID: NCT03665636
• Date of registration: 23/08/2018
• Prospective Registration: Yes
• Primary sponsor: Areeg El-Gharbawy
• Public title: Anaplerotic Therapy Using Triheptanoin for Patients With Glycogen Storage Disease Type I
• Scientific title: Anaplerotic Therapy Using Triheptanoin for Patients With Glycogen Storage Disease Type I
• Date of first enrolment: October 16, 2020
• Target sample size: 4
• Recruitment status: Completed
• URL: https://clinicaltrials.gov/show/NCT03665636
• Study type: Interventional
• Study design: Allocation: N/A. Intervention model: Single Group Assignment. Primary purpose: Treatment. Masking: None (Open Label).
• Phase: Early Phase 1

Countries of recruitment

United States

Contacts

• Name: Areeg El-Gharbawy, MD
• Affiliation: Duke University, Department of Pediatrics - Medical Genetics

Key inclusion & exclusion criteria

Inclusion Criteria:

- Naive to UX007 (triheptanoin)

- Confirmed documented diagnosis of GSDI: confirmation may be based on mutation
analysis, liver biopsy, or enzyme testing

- Willing and able to complete all aspects of the study through the end of the study,
including visits and tests, documentation of symptoms, blood sugar and dietary log,
and administration of UX007 (triheptanoin); minors in the study must have a
parent/legally authorized representative who is willing and able to assist in all
applicable study requirements

Exclusion Criteria:

- Have a history of severe inflammatory bowel disease, or severe chronic diarrhea per
the PI discretion on conventional doses of cornstarch

- Patient is on any other form of medium chain triglyceride (MCT) during the time of the
study. Patients will be asked to stop any nutritional compound that includes MCT oil
one week (7 days) prior to baseline.

- Have any co-morbid conditions, including major organ-system disease(s) that in the
opinion of the Investigator, places the subject at increased risk of complications,
interferes with study participation or compliance, or confounds study objectives

- Pregnancy

- Patients on continuous feeds, with a diagnosis of diabetes, and/or a diagnosis of any
other inborn error or metabolism



Age minimum: 1 Month
Age maximum: 65 Years
Gender: All

Health Condition(s) or Problem(s) studied

Glycogen Storage Disease Type I

Intervention(s)

Drug: Triheptanoin

Primary Outcome(s)

Blood glucose level [Time Frame: Baseline and 6 months]

Secondary Outcome(s)

Laboratory metabolic control markers [Time Frame: Baseline and 6 months]

Liver size assessment [Time Frame: Baseline and 6 months]

Dietary intake [Time Frame: Baseline and 6 months]

Liver steatosis assessment [Time Frame: Baseline and 6 months]

Other laboratory metabolic control markers [Time Frame: Baseline and 6 months]

Secondary ID(s)

Pro00103582

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Secondary Sponsor(s)

Ultragenyx Pharmaceutical Inc