Pilot Study of Triheptanoin in Patients With Glucose Transporter 1 Deficiency Syndrome

• Register: ClinicalTrials.gov
• Last refreshed on: 13 June 2016
• Main ID: NCT02000960
• Date of registration: 27/11/2013
• Prospective Registration: Yes
• Primary sponsor: University of British Columbia
• Public title: Pilot Study of Triheptanoin in Patients With Glucose Transporter 1 Deficiency Syndrome Glut1C7
• Scientific title: A Controlled N-of-1 Before-and-after Study to Determine Safety and Efficacy Triheptanoin in Patients With Glucose Transporter 1 Deficiency Syndrome
• Date of first enrolment: April 2014
• Target sample size: 3
• Recruitment status: Active, not recruiting
• URL: https://clinicaltrials.gov/show/NCT02000960
• Study type: Interventional
• Study design: Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment
• Phase: Phase 2

Countries of recruitment

Canada

Contacts

• Name: Sylvia Stockler
• Affiliation: The University of British Columbia/BC Children's Hospital

Key inclusion & exclusion criteria

Inclusion Criteria:

- Confirmed diagnosis of Glut1-DS with mutation(s) in SLC2A1 gene.

- Male or female age 1-18 years.

- Glut1-DS is currently managed with ketogenic diet for a minimum of 4 months prior to
baseline visit and patient is willing to maintain this diet for the study duration..

- Inadequate response to ketogenic diet defined by clinical 'breakthrough seizures',
confirmed by EEG and at least 1 clinical seizure episode documented in the seizure
logbook during the baseline period.

- For participants taking anticonvulsants for their seizures, anti-seizure medication
should not be changed at least 4 weeks prior to starting triheptanoin treatment and
the participant is willing to maintain the same dosing of all medication(s) during
study participation.

- Willing and able to provide written informed consent by parent(s) or guardian(s) or
assent by the participant, depending on the age, after the nature of the study has
been explained, and prior to any research related-procedures.

Exclusion Criteria:

- Participants with medium chain acyl-CoA dehydrogenase (MCAD) and propionyl CoA
carboxylase (PCC) deficiency will be excluded from the study as MCAD and PCC are
required for triheptanoin metabolism.

- A known allergy or sensitivity to any component of triheptanoin.

- The participant is using valproate for controlling his/her seizures. They are
eligible for the study, if they had not taken valproate within 3 weeks prior to
baseline visit and willing to not take it for the entire study duration. Valproate is
an AED that partially inhibits the TCA cycle via alpha-ketoglutarate dehydrogenase,
and should not be administered to subjects taking triheptanoin.

- Participant has any condition or situation which, in the investigator's opinion,
places the patient at significant risk of adverse events, or may interfere
significantly with their participation and compliance in the study.



Age minimum: 1 Year
Age maximum: 18 Years
Gender: Both

Health Condition(s) or Problem(s) studied

Glucose Transporter Type 1 Deficiency Syndrome

Intervention(s)

Drug: Triheptanoin

Primary Outcome(s)

Seizure Control [Time Frame: 8 months]

Secondary Outcome(s)

Neurodevelopmental function [Time Frame: 8 months]

Biochemical markers [Time Frame: 8 months]

Movement Disorder [Time Frame: 8 months]

Secondary ID(s)

H13-03330

VGTPH001

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Secondary Sponsor(s)

Ultragenyx Pharmaceutical Inc