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

NCT03059160 | Unknown Phase 2

• 1 other identifier: 3027-16-SMC
• Study Type: interventional
• Target: 10
• Locations: 0 countries
• Sites: N/A

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.

Conditions

Rett Syndrome

Keywords

Rett syndrome, Triheptanoic acid, Walking, EEG

Outcome Measures

Primary Outcomes (6)

• The number of patients with adverse events.

  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

  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.

  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.

  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

  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

  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 Outcomes (1)

• Change in seizure frequency during treatment with triheptanoin in Rett syndrome

  30 weeks

Study Arms (1)

open label

EXPERIMENTAL

Drug: Tridecanoic Acid

Interventions

Tridecanoic Acid DRUG

3 times daily oral doze of the drug for 20 weeks with 4 weeks of baseline and 4 weeks of washout

Also known as: triheptanoin

open label

Eligibility Criteria

• Age: 5 Years - 18 Years
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• Sheba Medical Center: lead
• Ultragenyx Pharmaceutical Inc: collaborator

MeSH Terms

Conditions

Rett Syndrome

Interventions

triheptanoin

Condition Hierarchy (Ancestors)

X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heredodegenerative Disorders, Nervous System

Study Officials

• Bruria Ben-Zeev, MD

  Head of pediatric neurology unit in Sheba medical center

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Bruria Ben-Zeev, MD

CONTACT

97235302687; bruria.benzeev@sheba.health.gov.il

Andreea Nissenkorn, MD

CONTACT

97235302687; andreea.nissenkorn@sheba.health.gov.il

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER GOV
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Head of pediatric neurology unit

Model Details: open label study with one doze

Study Record Dates

• First Submitted: February 2, 2017
• First Posted: February 23, 2017
• Study Start: April 1, 2017
• Primary Completion: April 1, 2018
• Study Completion: August 1, 2018
• Last Updated: February 23, 2017

Record last verified: 2017-02

Data Sharing

• IPD Sharing: Will share