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

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Brief Title

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

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 Description

      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 Period, the subject will be maintained on the maximum
                UX007 dose achieved during the Titration Period for the duration of the study.

                The following assessments will be performed:

                • QOL and RTT-specific functional/severity questionnaires

             2. Final dose (18 weeks): Patients will receive a dose of UX007 as determined in the
                Titration/Dose Setting period. They will be followed up by the Investigator and
                undergo safety and disease-related assessments as follows (schedules outlined in
                the protocol):

                  -  Physical examination

                  -  Vital signs (sitting BP, HR and respiratory rate, oral temperature)

                  -  Height and weight parameters

                  -  ECG

                  -  3-hour video EEG

                  -  24-hour NOX recording

                  -  Motor assessment

                  -  QOL and RTT-specific functional/severity questionnaires

                  -  Laboratory blood tests, including endocrinology, hematology, and biochemistry.

                  -  Data collection from parents' diaries

      4. Post-Washout Follow-up/End-of-Study:

      Within approximately six (6) weeks after last dose administration, a termination visit will
      be scheduled. The following activities will take place:

        -  Physical examination

        -  Vital signs (sitting BP, HR and respiratory rate, oral temperature)

        -  Height and weight parameters

        -  ECG

        -  3-hour video EEG

        -  24-hour NOX recording

        -  Motor assessment

        -  QOL and RTT-specific functional/severity questionnaires

        -  Laboratory blood tests, including endocrinology, hematology, and biochemistry.

        -  Data collection from parent's diaries

        -  Decision regarding continued administration of UX007 to patients who benefitted from the
           trial after the dechallenge period
    

Study Phase

Phase 2

Study Type

Interventional


Primary Outcome

The number of patients with adverse events.

Secondary Outcome

 Change in seizure frequency during treatment with triheptanoin in Rett syndrome

Condition

Rett Syndrome

Intervention

Tridecanoic Acid

Study Arms / Comparison Groups

 open label
Description:  

Publications

* 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

Drug

Estimated Enrollment

10

Start Date

April 1, 2017

Completion Date

August 1, 2018

Primary Completion Date

April 1, 2018

Eligibility Criteria

        Inclusion Criteria:

          -  Female patients aged 5 to18 years (inclusive).

          -  A classical diagnosis of RTT, defined according to the internationally agreed 2010
             Rett Search criteria, and with MECP2 pathogenic mutation.

          -  Patients with one or both of the following:

               -  At least 2 seizures per month as per history during the four-week baseline period
                  according to parent diary or per 3 hours video EEG recording

               -  Walking abilities, independent or with support

          -  Patients with breathing abnormalities as recorded by baseline NOX recording.

        Exclusion Criteria:

          -  Patients with significant metabolic, liver, cardiac, or respiratory morbidity not
             related to RTT

          -  Patients with significant liver, cardiac or respiratory morbidity related to RTT
      

Gender

Female

Ages

5 Years - 18 Years

Accepts Healthy Volunteers

No

Contacts

Bruria Ben-Zeev, MD, 97235302687, [email protected]



Administrative Informations


NCT ID

NCT03059160

Organization ID

3027-16-SMC


Responsible Party

Principal Investigator

Study Sponsor

Sheba Medical Center

Collaborators

 Ultragenyx Pharmaceutical Inc

Study Sponsor

Bruria Ben-Zeev, MD, Principal Investigator, Head of pediatric neurology unit in Sheba medical center


Verification Date

February 2017