Rett SyndromePhase 2UX007NCT03059160
Open Label Trial of Triheptanoin (UX007) in Treatment of Rett Syndrome.
A Phase 2 study testing Tridecanoic Acid in people with Rett Syndrome, run by Sheba Medical Center.
Trial 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. Read more about this study
- Who is it for?
- Ages 5 to 18 years, women only
- Conditions the study is for
- Rett Syndrome
- What is being tested?
- Tridecanoic Acid
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 10 participants
- Where
- No sites listed yet
- Study dates
- 1 Apr 2017to 1 Aug 2018
- Phase
- Phase 2
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 5 to 18 years
- Women only
- No healthy volunteers
- Child, Adult
Who may be able to join
- 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.
Who cannot join
- Patients with significant metabolic, liver, cardiac, or respiratory morbidity not related to RTT
- Patients with significant liver, cardiac or respiratory morbidity related to RTT
Trial locations and contacts
No sites are listed yet.
About this study
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.
Read the 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
- 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
- Conditions
- Rett Syndrome
- Being tested
- Tridecanoic Acid
- Keywords
- Rett syndrome, Triheptanoic acid, Walking, EEG
- Medical subject headings
- Rett Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Tridecanoic AcidDrug
Also called triheptanoin
3 times daily oral doze of the drug for 20 weeks with 4 weeks of baseline and 4 weeks of washout
| Study group | Role | What they receive |
|---|---|---|
| open label | Experimental | Not described Receives: Drug: Tridecanoic Acid |
What is being measured
The primary outcome is the main question the study is designed to answer.
The number of patients with adverse events.
The number of patients which will show adverse events during the screening, treatment and washout periods.
Measured: 30 weeks
The number of patients with ECG changes
The number of patients that show ECG changes and the type of change during the screening, treatment and washout periods.
Measured: 30 weeks
The number of patients with changes in vital signs.
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.
Measured: 30 weeks
The number of patients with changes in physical examination.
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.
Measured: 30 weeks
The number of patients with changes in BMI
The number of patients who will show change in BMI and its direction during the screening, treatment and washout periods.
Measured: 30 weeks
The number of patients with changes in laboratory examination including hematology, biochemistry and endocrinological measurements
The number of patients who will show changes in laboratory examination including hematology, biochemistry and endocrinological measurements during the screening, treatment and washout periods.
Measured: 30 weeks
Secondary outcomes (1)
Change in seizure frequency during treatment with triheptanoin in Rett syndrome
The change in number of seizures in each patient from the base line period to the treatment period and washout period
Measured: 30 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Feb 2017
- Study start1 Apr 2017 (estimated)
- Primary completion1 Apr 2018 (estimated)
- Study completion1 Aug 2018 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rett SyndromeStudies of the same condition, open and under way.
- More trials run by Sheba Medical CenterThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- open label study with one doze
- Masking
- None (open label)
- Enrolment
- 10 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Sheba Medical Center
- Sponsor type
- Other government
- Collaborators
- Ultragenyx Pharmaceutical Inc
- Responsible party
- Principal investigator, Prof. Bruria Ben-Zeev MD, Sheba Medical Center
- Investigators
- Bruria Ben-Zeev, MD, Principal investigator, Head of pediatric neurology unit in Sheba medical center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03059160
- Sponsor's protocol ID
- 3027-16-SMC
- Acronym
- UX007
- Status last verified
- Feb 2017
- First submitted
- 2 Feb 2017
- Last updated
- 23 Feb 2017
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: the final results of the study will be shared with ultragenix pharmaceutical and with other RETT syndrome researchers
Study at a glance
From the registry record, last updated by the sponsor on 23 Feb 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Open Label Trial of Triheptanoin (UX007) in Treatment of Rett Syndrome.
- ClinicalTrials.gov ID
- NCT03059160
- Acronym / sponsor ID
- UX007 / 3027-16-SMC
- Conditions
- Rett Syndrome
- Keywords
- Rett syndrome, Triheptanoic acid, Walking, EEG
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 10 participants (estimated)
- Lead sponsor
- Sheba Medical CenterOther government
- Collaborators
- Ultragenyx Pharmaceutical Inc
- Study start
- 1 Apr 2017 (estimated)
- Primary completion
- 1 Apr 2018 (estimated)
- Study completion
- 1 Aug 2018 (estimated)
- First posted
- 23 Feb 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
- 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
- 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 design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- open label study with one doze
| Arm | Type | Receives |
|---|---|---|
| open label | Experimental | Drug: Tridecanoic Acid |
Who may qualify
- Ages
- 5 to 18 years
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (6 listed)
- 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:
- Patients with breathing abnormalities as recorded by baseline NOX recording.
Key exclusion criteria (2 listed)
- Patients with significant metabolic, liver, cardiac, or respiratory morbidity not related to RTT
- Patients with significant liver, cardiac or respiratory morbidity related to RTT
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Tridecanoic AcidAlso: triheptanoin3 times daily oral doze of the drug for 20 weeks with 4 weeks of baseline and 4 weeks of washout | Drug | open label |
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 examination including hematology, biochemistry and endocrinological measurements during the screening, treatment and washout periods.
1 secondary outcome
Change in seizure frequency during treatment with triheptanoin in Rett syndrome
Time frame: 30 weeks
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Feb 2017.
- Individual participant dataSharing planned: Yes. the final results of the study will be shared with ultragenix pharmaceutical and with other RETT syndrome researchers
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Bruria Ben-Zeev, MD principal investigator
Head of pediatric neurology unit in Sheba medical center
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Tridecanoic Acid in people with Rett Syndrome, run by Sheba Medical Center.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 23 Feb 2017. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Bruria Ben-Zeev, MD (97235302687, bruria.benzeev@sheba.health.gov.il), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
The number of patients with adverse events. (time frame: 30 weeks). The study lists 6 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 23 Feb 2017.