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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/study/NCT01993186




Registration number
NCT01993186
Ethics application status
Date submitted
31/10/2013
Date registered
25/11/2013
Date last updated
19/06/2020

Titles & IDs
Public title
Phase 2 Study of Triheptanoin (UX007) for the Treatment of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)
Scientific title
A Randomized, Double-blind, Placebo-controlled, Parallel-group, Study to Assess the Safety and Efficacy of UX007 in Subjects With Glucose Transporter Type 1 Deficiency Syndrome
Secondary ID [1] 0 0
UX007G-CL201
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) 0 0
Condition category
Condition code
Metabolic and Endocrine 0 0 0 0
Metabolic disorders
Metabolic and Endocrine 0 0 0 0
Other metabolic disorders
Human Genetics and Inherited Disorders 0 0 0 0
Other human genetics and inherited disorders
Other 0 0 0 0
Research that is not of generic health relevance and not applicable to specific health categories listed above

Intervention/exposure
Study type
Interventional(has expanded access)
Description of intervention(s) / exposure
Treatment: Drugs - UX007
Treatment: Drugs - Placebo

Experimental: UX007 - Participants randomized to receive UX007 enter a 2-week dose titration period to achieve study drug treatment comprising up to 35% of total daily calories or to the maximum tolerated dose level and maintained at the 35% total daily calorie dose level for a 6-week treatment period.

Following completion of the Week 8 study visit, participants continue treatment with open-label UX007 at the 35% dose level for an additional 44 weeks (Weeks 8-52).

Placebo comparator: Placebo - Participants randomized to receive placebo enter a 2-week dose titration period to achieve study drug treatment comprising up to 35% of total daily calories or to the maximum tolerated dose level and maintained at the 35% total daily calorie dose level for a 6-week treatment period.

Following completion of the Week 8 study visit, placebo participants continue treatment with open-label UX007 at the 35% dose level for an additional 44 weeks (Weeks 8-52).


Treatment: Drugs: UX007
oral liquid

Treatment: Drugs: Placebo
oral liquid

Intervention code [1] 0 0
Treatment: Drugs
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
Percent Reduction From Baseline to Week 8 in Frequency of Total Seizures (Normalized to a 4-Week Rate)
Timepoint [1] 0 0
Baseline, Week 8
Primary outcome [2] 0 0
Number of Participants With Treatment-Emergent Adverse Events (TEAEs), Serious TEAEs and Discontinuations Due to TEAEs During the Placebo-Controlled Period
Timepoint [2] 0 0
Weeks 0 to 8
Primary outcome [3] 0 0
Number of Participants With TEAEs, Serious TEAEs and Discontinuations Due to TEAEs During the Extension Period
Timepoint [3] 0 0
Weeks 9 to 52 plus 30 days
Secondary outcome [1] 0 0
Percent Reduction From Baseline to Week 8 in Frequency of Observable Seizures (Normalized to a 4-Week Rate)
Timepoint [1] 0 0
Baseline, Week 8
Secondary outcome [2] 0 0
Percent Reduction From Baseline to Week 8 in Frequency of Absence Seizures (Normalized to a 4-Week Rate)
Timepoint [2] 0 0
Baseline, Week 8
Secondary outcome [3] 0 0
Percentage of Participants With at Least a 50% Reduction From Baseline to Week 8 in Frequency of Total Seizures
Timepoint [3] 0 0
Baseline, Week 8
Secondary outcome [4] 0 0
Percentage of Participants With at Least 50% Reduction From Baseline to Week 8 in Frequency of Observable Seizures
Timepoint [4] 0 0
Baseline, Week 8
Secondary outcome [5] 0 0
Percentage of Participants With at Least 50% Reduction From Baseline to Week 8 in Frequency of Absence Seizures
Timepoint [5] 0 0
Baseline, Week 8
Secondary outcome [6] 0 0
Change From Baseline to Week 8 in Cambridge Neuropsychological Test Automated Battery (CANTAB), Reaction Time (RTI) Scores, Generalized Estimating Equation (GEE)
Timepoint [6] 0 0
Baseline, Week 8
Secondary outcome [7] 0 0
Change From Baseline to Week 8 in CANTAB, Paired Associates Learning (PAL) Scores, GEE
Timepoint [7] 0 0
Baseline, Week 8
Secondary outcome [8] 0 0
Change From Baseline to Week 8 in CANTAB, Spatial Span (SSP) Span Length Scores, GEE
Timepoint [8] 0 0
Baseline, Week 8
Secondary outcome [9] 0 0
Change From Baseline to Week 8 in CANTAB, Spatial Working Memory (SWM) Scores, GEE
Timepoint [9] 0 0
Baseline, Week 8
Secondary outcome [10] 0 0
Change From Baseline to Week 8 in Distance Traveled (in Meters) as Measured by 6-Minute Walk Test (6MWT)
Timepoint [10] 0 0
Baseline, Week 8
Secondary outcome [11] 0 0
Change From Baseline to Week 8 in Distance Traveled (in Percent Predicted) as Measured by 6MWT
Timepoint [11] 0 0
Baseline, Week 8
Secondary outcome [12] 0 0
Time (in Minutes) to Onset of Paroxysmal Exertional Dyskinesia (PED) as Measured During 6MWT Over Time Through Week 8
Timepoint [12] 0 0
Baseline, Week 4, Week 8
Secondary outcome [13] 0 0
Change From Baseline to Week 8 in Gross Motor Function Measure-88 (GMFM-88) Total Score
Timepoint [13] 0 0
Baseline, Week 8
Secondary outcome [14] 0 0
Percent Reduction From Baseline Over Time in Frequency of Total Seizures (Normalized to a 4-Week Rate)
Timepoint [14] 0 0
Baseline, Week 26, Week 31
Secondary outcome [15] 0 0
Percent Reduction From Baseline Over Time in Frequency of Observable Seizures (Normalized to a 4-Week Rate)
Timepoint [15] 0 0
Baseline, Week 26, Week 31, Week 36, Week 52
Secondary outcome [16] 0 0
Percent Reduction From Baseline Over Time in Frequency of Absence Seizures (Normalized to a 4-week Rate)
Timepoint [16] 0 0
Baseline, Week 26, Week 31

Eligibility
Key inclusion criteria
1. Diagnosis of Glut1 DS confirmed by SLC2A1 mutation
2. Males and females at least 1 of age at the time of informed consent
3. Average of at least 2 observable seizures (generalized or partial-onset [simple partial motor, complex partial, absence, or secondarily generalized seizures) in 4 weeks over the last 24 weeks, by subject or caregiver report
4. At least 2 observable seizures (generalized or partial-onset [simple partial motor, complex partial, or secondarily generalized seizures) in 4 weeks during the Baseline Period, with no 3-week seizure-free period during the Baseline Period OR absence seizures documented on Screening electroencephalogram (EEG)
5. Continuing to have seizures despite a prior or current use of at least 1 antiepileptic drug (AED)
6. Allowed to be on up to 3 concomitant AEDs that must have been stable in dose at least 2 weeks prior to the beginning of screening and anticipated to remain stable in dose through the end of the 8-week, placebo-controlled Treatment Period
7. Not on, or not fully compliant with a prescribed diet plan (e.g. KD)
8. Plasma level of beta-hydroxybutyrate (BHB) = 1 mmol/L (non-fasting) at Screening
9. Provide written or verbal assent (if possible) and written informed consent by a legally authorized representative after the nature of the study has been explained, and prior to any research-related procedures
10. Must, in the opinion of the investigator, be willing and able to complete all aspects of the study, comply with accurate completion of the seizures diary, and likely to complete the 8 week, placebo-controlled, Treatment Period
11. Females of childbearing potential must have a negative pregnancy test at Screening, be willing to use an acceptable method of contraception, and have additional pregnancy tests during the study. Females considered not of childbearing potential include those who have not reached menarche, had total hysterectomy, have been in menopause for at least two years, or have had tubal ligation at least one year prior to Screening.
Minimum age
1 Year
Maximum age
100 Years
Sex
Both males and females
Can healthy volunteers participate?
No
Key exclusion criteria
1. Serum alanine aminotransferase (ALT) or aspartate aminotransferase (AST) levels exceeding 3 times the upper limit of normal at Screening
2. Any known hypersensitivity to triheptanoin or safflower oil that, in the judgment of the investigator, places the subject at increased risk for adverse effects
3. Prior use of triheptanoin within 30 days prior to Screening
4. History of, or current suicidal ideation, behavior and/or attempts
5. Pregnant and/or breastfeeding an infant at Screening
6. Participants unwilling or unable to discontinue use of a prohibited medication or other substance that may confound study objectives
7. Use of any investigational product (drug or supplement, including medium chain triglyceride [MCT] oil) within 30 days prior to Screening, or at any time during the study
8. Has a condition of such severity and acuity, in the opinion of the investigator, that it warrants immediate surgical intervention or other treatment
9. Has a concurrent disease or condition, or laboratory abnormality that, in the view of the investigator, places the subject at high risk of poor treatment compliance or of not completing the study, or would interfere with study participation or introduces additional safety concerns (e.g., diabetes mellitus, other concurrent neurological or psychiatric disorders)

Study design
Purpose of the study
Treatment
Allocation to intervention
Randomised controlled trial
Procedure for enrolling a subject and allocating the treatment (allocation concealment procedures)
Methods used to generate the sequence in which subjects will be randomised (sequence generation)
Masking / blinding
Blinded (masking used)
Who is / are masked / blinded?
The people receiving the treatment/s
The people administering the treatment/s
The people assessing the outcomes
The people analysing the results/data
Intervention assignment
Parallel
Other design features
Phase
Phase 2
Type of endpoint/s
Statistical methods / analysis

Recruitment
Recruitment status
Completed
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
Actual
Sample size
Target
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
VIC
Recruitment hospital [1] 0 0
Melbourne Brain Centre - Heidelberg
Recruitment postcode(s) [1] 0 0
3084 - Heidelberg
Recruitment outside Australia
Country [1] 0 0
United States of America
State/province [1] 0 0
Colorado
Country [2] 0 0
United States of America
State/province [2] 0 0
Florida
Country [3] 0 0
United States of America
State/province [3] 0 0
New York
Country [4] 0 0
United States of America
State/province [4] 0 0
Texas
Country [5] 0 0
United States of America
State/province [5] 0 0
Washington
Country [6] 0 0
France
State/province [6] 0 0
Cedex 19
Country [7] 0 0
Israel
State/province [7] 0 0
Tel Aviv
Country [8] 0 0
Italy
State/province [8] 0 0
Genova
Country [9] 0 0
Spain
State/province [9] 0 0
Barcelona
Country [10] 0 0
United Kingdom
State/province [10] 0 0
Newcastle Upon Tyne

Funding & Sponsors
Primary sponsor type
Commercial sector/industry
Name
Ultragenyx Pharmaceutical Inc
Address
Country

Ethics approval
Ethics application status

Summary
Brief summary
Trial website
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
Medical Director
Address 0 0
Ultragenyx Pharmaceutical Inc
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Address 0 0
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for scientific queries

No information has been provided regarding IPD availability


What supporting documents are/will be available?

Results publications and other study-related documents

No documents have been uploaded by study researchers.