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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/show/NCT02599961




Registration number
NCT02599961
Ethics application status
Date submitted
3/11/2015
Date registered
9/11/2015
Date last updated
11/06/2020

Titles & IDs
Public title
Study to Assess the Long Term Safety and Efficacy of UX007 in Participants With Glucose Type 1 Deficiency Syndrome (Glut1 DS)
Scientific title
An Open-label Extension Study to Assess the Long-term Safety and Efficacy of UX007 in Subjects With Glucose Transporter Type 1 Deficiency Syndrome
Secondary ID [1] 0 0
2015-000389-69
Secondary ID [2] 0 0
UX007G-CL202
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Glucose Transporter Type 1 Deficiency Syndrome 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

Experimental: UX007 - UX007 dosing targeted and/or maintained at 35% of total daily caloric intake.


Treatment: Drugs: UX007
UX007 is a liquid intended for oral (PO) administration.

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

Outcomes
Primary outcome [1] 0 0
Number of Participants With Treatment-Emergent Adverse Events (TEAEs), Serious TEAEs, Discontinuations Due to TEAEs, and Deaths - An adverse event (AE) was defined as any untoward medical occurrence, whether or not considered drug related. Serious adverse events (SAEs) are AEs that at any dose, in the view of either the investigator or sponsor, results in any of the following outcomes: death; a life-threatening AE; inpatient hospitalization or prolongation of existing hospitalization; persistent or significant incapacity or disability; a congenital anomaly/birth defect; other important medical event. An AE was considered a TEAE if it occurred on or after the first dose in this study, and was not present prior to the first dose in this study, or it was present at the first dose in this study but increased in severity during the study. Severity was based on Common Terminology Criteria for Adverse Events (CTCAE): 1 = mild, 2 = moderate, 3 = severe, 4 = life threatening, and 5 = death related to AE.
Timepoint [1] 0 0
From first dose of study drug up to 36 months. The mean (SD) treatment duration was 667.9 (357) days.
Secondary outcome [1] 0 0
Change From Baseline Over Time in Overall Seizure Frequency Per 4 Weeks - The number of observable seizures were recorded by the subject or caregiver via diary throughout the study. Observable seizures were defined as: generalized tonic-clonic; generalized tonic; generalized clonic; generalized atonic; partial/focal with secondary generalization; myoclonic, myoclonic (astatic) atonic, myoclonic tonic; complex partial/focal; simple partial/focal motor; absence.
Timepoint [1] 0 0
Baseline (from NCT01993186), Month 0-3, Month 4-6, Month 7-9, Month 10-12, Month 13-18, Month 19-24, Month 25-30, Month 31-36
Secondary outcome [2] 0 0
Change From Baseline Over Time in CNS Total Score - The CNS evaluates measures of neurological function and development delay, and is the sum of scores for the following domains: Weight, Height, Head Circumference, General Medical Exam, Funduscopic Exam, Cranial Nerves, Stance & Gait, Involuntary Movements, Sensation, Cerebellar Function, Muscle Bulk, Tone & Strength, Myotatic Reflexes, Toe Sign, Other Findings. The CNS is only scored when all domains are measured and ranges from 0 (abnormal exam) to 76 (normal exam). Higher scores are associated with higher neurological function.
Timepoint [2] 0 0
Baseline (from NCT01993186), Month 0, Month 6, Month 12, Month 24, Month 36
Secondary outcome [3] 0 0
Change From Baseline Over Time in SF-10 Health Survey for Children Physical Summary Score - The SF-10 Health Survey for Children was administered to caregivers of participants aged 5-17 years. Responses are used to generate 2 component summary scores: Physical Summary Score and the Psychosocial Summary Score. The T-score based scale scores were centered so that a score of 50 corresponds to the average score in a comprehensive 2006 sample (a combination of general population and supplemental disability and chronic condition samples). Higher scores are associated with better quality of life.
Timepoint [3] 0 0
Baseline (from NCT01993186), Month 0, Month 6, Month 12, Month 18, Month 24, Month 30
Secondary outcome [4] 0 0
Change From Baseline Over Time in SF-10 Health Survey for Children Psychosocial Summary Score - The SF-10 Health Survey for Children was administered to caregivers of participants aged 5-17 years. Responses are used to generate 2 component summary scores: Physical Summary Score and the Psychosocial Summary Score. The T-score based scale scores were centered so that a score of 50 corresponds to the average score in a comprehensive 2006 sample (a combination of general population and supplemental disability and chronic condition samples). Higher scores are associated with better quality of life.
Timepoint [4] 0 0
Baseline (from NCT01993186), Month 0, Month 6, Month 12, Month 18, Month 24, Month 30
Secondary outcome [5] 0 0
Change From Baseline Over Time in SF-12v2 Health Survey PCS Score - SF-12v2 was assessed for adults 18 years of age and older. Eight domain scores were used to generate 2 component summary scores: physical health (PCS) and mental health (MCS). The PCS and MCS scores have mean of 50 and SD of 10. The T-score based scoring method scores the data in relation to U.S. general population T-scores. Therefore, all scores obtained that are below 50 can be interpreted as below the U.S. general population T-score and scores above 50 can be interpreted as above the U.S. general population T-score. Higher global scores are associated with better quality of life.
Timepoint [5] 0 0
Baseline (from NCT01993186), Month 0, Month 6, Month 12, Month 18
Secondary outcome [6] 0 0
Change From Baseline Over Time in SF-12v2 Health Survey MCS Score - SF-12v2 was assessed for adults 18 years of age and older. Eight domain scores were used to generate 2 component summary scores: physical health (PCS) and mental health (MCS). The PCS and MCS scores have mean of 50 and SD of 10. The T-score based scoring method scores the data in relation to U.S. general population T-scores. Therefore, all scores obtained that are below 50 can be interpreted as below the U.S. general population T-score and scores above 50 can be interpreted as above the U.S. general population T-score. Higher global scores are associated with better quality of life.
Timepoint [6] 0 0
Baseline (from NCT01993186), Month 0, Month 6, Month 12, Month 18

Eligibility
Key inclusion criteria
- Diagnosis of Glut 1 DS confirmed by cerebrospinal fluid glucose concentration.
erythrocyte 3-O-methyl-D-glucose uptake assay, or solute carrier family 2 member 1
(SLC2A1) molecular genetic testing (Information obtained from Medical Records)

- Males and females aged at least 1 year old at the time of informed consent

- Completion of UX007G-CL201 study (NCT01993186). Glut1 DS patients who received
UX007/triheptanoin treatment as apart of clinical studies, ISTs or expanded
access/compassionate use treatment programs may be eligible at the discretion of the
Sponsor

- Provide written informed consent or verbal assent (if possible) with written informed
consent by a legally authorized representative after the nature of the study has been
explained, and prior to any research related procedures

- Must, in the opinion of the investigator, be willing and able to complete all aspects
of the study, and comply with accurate completion of the seizure diary

- Females of childbearing potential must have a negative urine pregnancy test at
Baseline and be willing to have additional pregnancy tests during the study. Females
considered not of childbearing potential include those who have not experienced
menarche, are post-menopausal (defined as having no menses for at least 12 months
without an alternative medical cause), or are permanently sterile due to total
hysterectomy, bilateral salpingectomy, or bilateral oophorectomy.

- Participants of child-bearing potential or fertile males with partners of
child-bearing potential who are sexually active must consent to use a highly-effective
method of contraception as determined by the investigator from the period following
the signing of the informed consent through 30 days after last dose of study drug.
Minimum age
1 Year
Maximum age
No limit
Gender
Both males and females
Can healthy volunteers participate?
No
Key exclusion criteria
- Any known hypersensitivity to triheptanoin, that in the judgement of the investigator,
places the subject at an increased risk for adverse effects

- History of, or current suicidal ideation, behavior and/or attempts

- Pregnant and/or breast feeding an infant

- Unwilling or unable to discontinue use of prohibited medication (barbiturates,
pancreatic lipase inhibitors) or other substance that may confound study objectives.
Use of up to 3 concomitant antiepileptic drugs is allowed, provided dose has been
stable at least 14 days prior to Baseline

- Use of any Investigational Product, drug or supplement (other than UX007) within 30
days prior to Baseline, or at any time during the study

- Has a condition of such severity and acuity, in the opinion of the investigator, that
it warrants immediate surgical intervention or other treatment

- 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 introduce
additional safety concerns

Study design
Purpose of the study
Treatment
Allocation to intervention
N/A
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
Open (masking not used)
Who is / are masked / blinded?



Intervention assignment
Single group
Other design features
Phase
Phase 2
Type of endpoint(s)
Statistical methods / analysis

Recruitment
Recruitment status
Terminated
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
Denmark
State/province [6] 0 0
Copenhagen
Country [7] 0 0
Spain
State/province [7] 0 0
Barcelona
Country [8] 0 0
United Kingdom
State/province [8] 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
The primary objective of the study is to evaluate the long-term safety of UX007 in Glut1 DS
participants.
Trial website
https://clinicaltrials.gov/show/NCT02599961
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

Summary results
For IPD and results data, please see https://clinicaltrials.gov/show/NCT02599961