Glucose Transporter Type 1 Deficiency SyndromePhase 2NCT02599961
Study to Assess the Long Term Safety and Efficacy of UX007 in Participants With Glucose Type 1 Deficiency Syndrome (Glut1 DS)
A Phase 2 study testing UX007 in people with Glucose Transporter Type 1 Deficiency Syndrome, run by Ultragenyx Pharmaceutical Inc at 9 sites in 5 countries.
Trial summary
The primary objective of the study is to evaluate the long-term safety of UX007 in Glut1 DS participants. Read more about this study
- Who is it for?
- Ages 1 year and older
- Conditions the study is for
- Glucose Transporter Type 1 Deficiency Syndrome
- What is being tested?
- UX007
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 15 participants
- Where
- 9 sitesin 5 countries
- Study dates
- 10 Sep 2015to 22 Oct 2019
- Phase
- Phase 2
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
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 1 year and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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.
Who cannot join
- 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
Trial locations and contacts
9 sites in 5 countries.
9 sites in 5 countries
United States5 sites
Children's Hospital Colorado - University of Colorado, Denver, School of Medicine
Aurora, Colorado, 80045
Cook Children's Medical Center
Fort Worth, Texas, 76104
Miami Children's Hospital
Miami, Florida, 33155
Columbia University Medical Center
New York, New York, 10032
Seattle Children's Hospital
Seattle, Washington, 98105
United Kingdom1 site
The Newcastle upon Tyne Hospitals NHS Foundation Trust
Newcastle upon Tyne, NE7 7DN
About this study
Official 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
The primary objective of the study is to evaluate the long-term safety of UX007 in Glut1 DS participants.
Read the detailed description
The study will enroll up to 40 pediatric, adolescent and adult Glut 1 DS participants who have completed the UX007G-CL201 (NCT019933186) study and, at the discretion of the Sponsor, additional participants from other clinical studies, investigator sponsored trials (ISTs), or expanded access/compassionate use treatment.
- Being tested
- UX007
- Keywords
- Glut 1 DS
- Medical subject headings
- Glut1 Deficiency Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
UX007Drug
Also called Triheptanoin
UX007 is a liquid intended for oral (PO) administration.
| Study group | Role | What they receive |
|---|---|---|
| UX007 | Experimental | UX007 dosing targeted and/or maintained at 35% of total daily caloric intake. Receives: Drug: UX007 |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: From first dose of study drug up to 36 months. The mean (SD) treatment duration was 667.9 (357) days.
Secondary outcomes (6)
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.
Measured: 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
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.
Measured: Baseline (from NCT01993186), Month 0, Month 6, Month 12, Month 24, Month 36
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.
Measured: Baseline (from NCT01993186), Month 0, Month 6, Month 12, Month 18, Month 24, Month 30
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.
Measured: Baseline (from NCT01993186), Month 0, Month 6, Month 12, Month 18, Month 24, Month 30
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.
Measured: Baseline (from NCT01993186), Month 0, Month 6, Month 12, Month 18
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.
Measured: Baseline (from NCT01993186), Month 0, Month 6, Month 12, Month 18
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Nov 2015 (estimated)
- Study start10 Sep 2015
- Primary completion22 Oct 2019
- Study completion22 Oct 2019
Why it stopped: Study was halted prematurely due to lack of efficacy
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Glucose Transporter Type 1 Deficiency SyndromeStudies of the same condition, open and under way.
- More trials run by Ultragenyx Pharmaceutical IncThe 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
- Masking
- None (open label)
- Enrolment
- 15 participants (actual)
Sponsor and investigators
- Lead sponsor
- Ultragenyx Pharmaceutical Inc
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Medical Director, Study director, Ultragenyx Pharmaceutical Inc
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02599961
- Sponsor's protocol ID
- UX007G-CL202
- Other IDs
- 2015-000389-69, 2015
- Status last verified
- Jun 2020
- First submitted
- 3 Nov 2015
- Last updated
- 11 Jun 2020
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- No
- Expanded access
- Available
Study at a glance
From the registry record, last updated by the sponsor on 11 Jun 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official 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
- ClinicalTrials.gov ID
- NCT02599961
- Acronym / sponsor ID
- UX007G-CL202
- Keywords
- Glut 1 DS
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- TerminatedReason stopped: Study was halted prematurely due to lack of efficacy
- Enrolment
- 15 participants (actual)
- Lead sponsor
- Ultragenyx Pharmaceutical IncIndustry (pharma, biotech, devices)
- Study start
- 10 Sep 2015 (actual)
- Primary completion
- 22 Oct 2019 (actual)
- Study completion
- 22 Oct 2019 (actual)
- First posted
- 9 Nov 2015 (estimated)
- Results
- Posted 30 Apr 2020
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The primary objective of the study is to evaluate the long-term safety of UX007 in Glut1 DS participants.
Detailed description
The study will enroll up to 40 pediatric, adolescent and adult Glut 1 DS participants who have completed the UX007G-CL201 (NCT019933186) study and, at the discretion of the Sponsor, additional participants from other clinical studies, investigator sponsored trials (ISTs), or expanded access/compassionate use treatment.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| UX007 | Experimental | Drug: UX007UX007 dosing targeted and/or maintained at 35% of total daily caloric intake. |
Who may qualify
- Ages
- 1 year and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (7 listed)
- 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
Key exclusion criteria (7 listed)
- 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
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 |
|---|---|---|
| UX007Also: TriheptanoinUX007 is a liquid intended for oral (PO) administration. | Drug | UX007 |
Primary outcome
Number of Participants With Treatment-Emergent Adverse Events (TEAEs), Serious TEAEs, Discontinuations Due to TEAEs, and Deaths
Time frame: From first dose of study drug up to 36 months. The mean (SD) treatment duration was 667.9 (357) days.
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.
6 secondary outcomes
Change From Baseline Over Time in Overall Seizure Frequency Per 4 Weeks
Time frame: 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
Change From Baseline Over Time in CNS Total Score
Time frame: Baseline (from NCT01993186), Month 0, Month 6, Month 12, Month 24, Month 36
Change From Baseline Over Time in SF-10 Health Survey for Children Physical Summary Score
Time frame: Baseline (from NCT01993186), Month 0, Month 6, Month 12, Month 18, Month 24, Month 30
Change From Baseline Over Time in SF-10 Health Survey for Children Psychosocial Summary Score
Time frame: Baseline (from NCT01993186), Month 0, Month 6, Month 12, Month 18, Month 24, Month 30
Change From Baseline Over Time in SF-12v2 Health Survey PCS Score
Time frame: Baseline (from NCT01993186), Month 0, Month 6, Month 12, Month 18
Change From Baseline Over Time in SF-12v2 Health Survey MCS Score
Time frame: Baseline (from NCT01993186), Month 0, Month 6, Month 12, Month 18
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Jun 2020.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Company WebsiteLink provided by the sponsor.
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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.
Medical Director study director
Ultragenyx Pharmaceutical Inc
9 sites in 5 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing UX007 in people with Glucose Transporter Type 1 Deficiency Syndrome, run by Ultragenyx Pharmaceutical Inc at 9 sites in 5 countries.
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 7 inclusion and 7 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: stopped early, as of the sponsor's last update on 11 Jun 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 9 sites in United States, Australia, Denmark, Spain, United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
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?
Yes. Results are posted in the registry (first posted 30 Apr 2020). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of Participants With Treatment-Emergent Adverse Events (TEAEs), Serious TEAEs, Discontinuations Due to TEAEs, and Deaths (time frame: From first dose of study drug up to 36 months. The mean (SD) treatment duration was 667.9 (357) days.). 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 11 Jun 2020.