Anaplerotic Therapy Using Triheptanoin for Patients With Glycogen Storage Disease Type I
Condition: Glycogen Storage Disease Type I
MeSH terms: Glycogen Storage Disease; Glycogen Storage Disease Type I; Metabolic Diseases; Disease
Study type: Interventional
Phase: Early Phase 1

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.
    

Intervention name(s): Triheptanoin
Intervention type(s): Drug
Intervention description(s): This is an open-label study. The UX007 (triheptanoin) starting dose will be 0.25 - 0.5 g/kg and titrated to a maximum of 2.5g/kg depending the on the subject's tolerance. The dose may be reduced if not tolerated. The compound will be administered 3-4 times per day, either at the end of a meal or with a snack. It should be given at least 2 hours apart from any cornstarch dose to allow each to act independent of one another, and to prevent the risk of increased gastrointestinal side effects. The doses may be held during episodes of gastroenteritis or diarrhea.
Other intervention name(s): UX007
Intervention model: Single Group Assignment
Intervention model description: This study is an interventional, open-label, feasibility pilot project to study the safety, efficacy, and tolerability of triheptanoin in patients with GSD I.
Masking: None (Open Label)
Primary purpose: Treatment
Keywords: Glycogen Storage Disease Type I; GSD I; Anaplerosis; Triheptanoin; Hypoglycemia