Clinical Trial: Open Label Trial of Triheptanoin (UX007) in Treatment of Rett Syndrome.

Study Status: Not yet recruiting
Recruit Status: Not yet recruiting
Study Type: Interventional

Official Title: Open Label Trial of Triheptanoin (UX007) in Treatment of Rett Syndrome.

Brief Summary: This is a single-center, exploratory, open-label study in 10 girls diagnosed with Rett Syndrome. The study will consist of the following 4 parts: Screening/Baseline run-in, Titration/Dose-Setting, Treatment, and Washout/Follow-up.

Detailed Summary:

  1. Screening and baseline assessments (4 weeks before first treatment): After having the parents sign an informed consent, eligible patients will undergo baseline assessments (safety and disease variables) as follows:

    • Physical examination
    • Vital signs: sitting Blood Presure (BP),Heart Rate (HR) and respiratory rate, arm pit temperature.
    • Baseline height and weight parameters
    • ECG (ElectroCardioGraphy)
    • 3-hour video EEG (ElectroEncephaloGram)
    • 24-hour NOX-T3 (Portable Sleep Monitor) recording
    • QOL (Quality of Life) and Rett Syndrome-specific functional/severity questionnaires
    • Laboratory blood tests, including endocrinology, hematology, and biochemistry.
    • Parents will be requested to fill in a diary and record on a daily basis seizure occurrence for at least 4 weeks before first treatment. In addition they will be asked to record their top 3 concerns pertaining to the care and overall well-being of the patient.

  2. Treatment period (20 weeks):

    1. Initial and final dose setting (2 weeks): UX007 will be titrated in each patient over 2 weeks to a dose of 1-4 grams per kilogram per day (based on age). If a subject cannot tolerate titrating up to the 1-4 g/kg/day dose level, the dose should be titrated to the maximum tolerated dose as determined by the Investigator. At the end of the Titration
      Sponsor: Sheba Medical Center

      Current Primary Outcome:

      • The number of patients with adverse events. [ Time Frame: 30 weeks ]
        The number of patients which will show adverse events during the screening, treatment and washout periods.
      • The number of patients with ECG changes [ Time Frame: 30 weeks ]
        The number of patients that show ECG changes and the type of change during the screening, treatment and washout periods.
      • The number of patients with changes in vital signs. [ Time Frame: 30 weeks ]
        The number of patients which will show change in vital signs during the screening, treatment and washout periods including bloodpressure, heart rate, respiration rate and body temperature.
      • The number of patients with changes in physical examination. [ Time Frame: 30 weeks ]
        The number of patients who show a change in their physical examination during the screening, treatment and washout periods including height, neurological findings, change in size of liver and spleen , skin changes.
      • The number of patients with changes in BMI [ Time Frame: 30 weeks ]
        The number of patients who will show change in BMI and its direction during the screening, treatment and washout periods.
      • The number of patients with changes in laboratory examination including hematology, biochemistry and endocrinological measurements [ Time Frame: 30 weeks ]
        The number of patients who will show changes in laboratory examinat

        Original Primary Outcome: Same as current

        Current Secondary Outcome: Change in seizure frequency during treatment with triheptanoin in Rett syndrome [ Time Frame: 30 weeks ]

        The change in number of seizures in each patient from the base line period to the treatment period and washout period


        Original Secondary Outcome: Same as current

        Information By: Sheba Medical Center

        Dates:
        Date Received: February 2, 2017
        Date Started: April 1, 2017
        Date Completion: August 1, 2018
        Last Updated: February 16, 2017
        Last Verified: February 2017