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

Brief Title

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

Official Title

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

Brief Summary

      This study will be an open-label, prospective, interventional feasibility pilot project to
      study the efficacy, safety, and tolerability of UX007 (triheptanoin) on reducing hypoglycemic
      events in patients with GSD I. Subjects will serve as their own control. Five (5) subjects
      who are treatment naïve to UX007 (triheptanoin) and are already on standard dietary therapy
      for GSDI will be enrolled.

      The primary objective is to evaluate the efficacy, safety, and tolerability of UX007
      (triheptanoin) in patients with GSD I. The secondary objectives include evaluating the effect
      of UX007 (triheptanoin) on maintaining the duration of normoglycemia between meals based on
      glucose monitoring (Preventing and reducing the frequency of hypoglycemia);
      reduction/stabilization of the dose of cornstarch; and the prevention of increased liver
      steatosis based on ultrasound with elastography.

Detailed Description

      Prior to first study appointment:

      A medical record review will be done prior to the appointment to confirm the diagnosis of GSD
      I. For interested subjects who are not already known to the investigators (i.e., patients of
      the Duke University Medical Center), a release of protected health information will be signed
      by the potential subjects to obtain records that can be used to confirm diagnosis.

      Baseline / Visit 1:

      Study subjects will be instructed to come to the DUMC to review and sign the informed consent
      document. At that time, complete medical history and complete physical examination will be
      obtained. Blood and urine will be collected for laboratory assessments. Height, weight, and
      vital signs (blood pressure, pulse, respiration) will be collected.

      A nutritional history and review of diet dairy collected three days prior to the visit will
      be reviewed by a study dietitian. The blood glucose monitoring log for the three days prior
      to the visit will also be reviewed the study dietitian and MD. Study staff will collect
      concomitant medications and adverse event collection will begin once dosing with UX007 is
      initiated. An ultrasound with elastography will be conducted at the DUMCs radiology
      department and reviewed and a report generated by a radiologist.

      Safety Phone Contact:

      Subjects will be called by study staff the day after they start the UX007 and again 4 weeks
      later to assess nutritional history, review of glucose diary, review of dosing compliance,
      and to obtain an updated weight. Study staff will also review adverse events (AE/SAE) and
      concomitant medications during these calls. If a subject experiences an AE/SAE they will be
      contacted every two weeks until the AE/SAE is resolved.

      2, 4, and 6 Month/Early Termination Visits:

      Same procedures will be conducted as at the baseline visit, with the exception of the
      ultrasound with elastography, which will only be collected again at the 6 Month/Early
      Termination Visit.

      Post-termination Phone Contact:

      2-6 weeks after the 6 month/early termination visit study staff will contact the subject to
      collect an interim medical history, evaluation of nutritional history, review of glucose
      diary as well as review of adverse events and concomitant medications. An updated weight will
      also be obtained.

Study Phase

Early Phase 1

Study Type


Primary Outcome

Blood glucose level

Secondary Outcome

 Dietary intake


Glycogen Storage Disease Type I



Study Arms / Comparison Groups

Description:  Open Label Study


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status


Estimated Enrollment


Start Date

October 16, 2020

Completion Date

November 30, 2021

Primary Completion Date

September 30, 2021

Eligibility 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




1 Month - 65 Years

Accepts Healthy Volunteers



Areeg El-Gharbawy, MD, 919 660 0758, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID


Responsible Party


Study Sponsor

Areeg El-Gharbawy


 Ultragenyx Pharmaceutical Inc

Study Sponsor

Areeg El-Gharbawy, MD, Principal Investigator, Duke University, Department of Pediatrics - Medical Genetics

Verification Date

April 2021