- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT03059160
Open Label Trial of Triheptanoin (UX007) in Treatment of Rett Syndrome. (UX007)
Study Overview
Detailed Description
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.
Treatment period (20 weeks):
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
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 Type
Enrollment (Anticipated)
Phase
- Phase 2
Contacts and Locations
Study Contact
- Name: Bruria Ben-Zeev, MD
- Phone Number: 97235302687
- Email: bruria.benzeev@sheba.health.gov.il
Study Contact Backup
- Name: Andreea Nissenkorn, MD
- Phone Number: 97235302687
- Email: andreea.nissenkorn@sheba.health.gov.il
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Description
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
Study Plan
How is the study designed?
Design Details
- Primary Purpose: Treatment
- Allocation: N/A
- Interventional Model: Single Group Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
Experimental: open label
|
3 times daily oral doze of the drug for 20 weeks with 4 weeks of baseline and 4 weeks of washout
Other Names:
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
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.
|
30 weeks
|
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.
|
30 weeks
|
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.
|
30 weeks
|
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.
|
30 weeks
|
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.
|
30 weeks
|
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 examination including hematology, biochemistry and endocrinological measurements during the screening, treatment and washout periods.
|
30 weeks
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
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
|
30 weeks
|
Collaborators and Investigators
Sponsor
Collaborators
Investigators
- Principal Investigator: Bruria Ben-Zeev, MD, Head of pediatric neurology unit in Sheba medical center
Study record dates
Study Major Dates
Study Start (Anticipated)
Primary Completion (Anticipated)
Study Completion (Anticipated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- 3027-16-SMC
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
IPD Plan Description
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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