Glucose Transporter Type 1 deficiency syndrome MedDRA version: 20.0 Level: LLT Classification code 10061032 Term: Carbohydrate transport disorder System Organ Class: 100000004850
Conditions
Sponsors
Ultragenyx Pharmaceutical Inc
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1)Diagnosis of Glut1 DS confirmed by SLC2A1 mutation 2)Males and females, aged =6 years old at the time of informed consent 3)At least 8 disabling paroxysmal movement disorder events in the 12 weeks prior to the Screening, by subject or caregiver report OR At least 6 disabling paroxysmal movement disorder events in any 6 consecutive week period, over the last 12 week period prior to the Screening, by subject or caregiver report 4)At least 4 disabling paroxysmal movement disorder events in 6 week Run-in Period, reported in the daily electronic Glut1 DS symptom diary 5)=80% compliance with daily electronic Glut1 DS symptom diary completion during the Run-in Period 6)Not on KD, modified KD, or ketosis-inducing modified-fat diet for at least 3 months prior to Screening 7)Plasma level of beta-hydroxybutyrate (BHB) = 1 mmol/L (non-fasting) at Screening 8)Provide written or verbal assent (if possible) and written informed consent by the patient (if an adult), or by a legally authorized representative after the nature of the study has been explained, and prior to any research-related procedures 9)Must, in the opinion of the Investigator, be willing and able to complete key aspects of the study and be likely to complete the 22-week, placebo-controlled, treatment period 10)Patient (or caregiver) must, in the opinion of the Investigator, be able to comply with accurate completion of the study daily electronic Glut1 DS symptom diary 11)Females of child-bearing potential must have a negative urine pregnancy test at Screening and Baseline and be willing to have additional pregnancy tests during the study. Females considered not to be 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. 12)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 site Investigator from the period following the signing of the informed consent through 30 days after last dose of study drug Are the trial subjects under 18? yes Number of subjects for this age range: 11 F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range 25 F.1.3 Elderly (>=65 years) yes F.1.3.1 Number of subjects for this age range 4
Exclusion criteria
Exclusion criteria: 1)Any known hypersensitivity to triheptanoin or safflower oil that, in the judgment of the Investigator, places the subject at increased risk for adverse effects 2)Prior use of triheptanoin within 30 days prior to Screening 3)History of, or current suicidal ideation, behavior and/or attempts per C-SSRS at Screening or Baseline 4)Pregnant and/or breastfeeding an infant at Screening or Baseline 5)Participants unwilling or unable to discontinue use of a prohibited medication or other substance that may confound study objectives (Section 7.4.6.1 [MCT oil, barbiturates, pancreatic lipase inhibitors, KetoCal or other KD supplements, and/or KD]) 6)Glut1 DS treatment regimen, including AEDs, should be stable for at least 30 days prior to Screening 7)Use of any investigational product (drug, medical food, or supplement, including medium chain triglyceride [MCT] oil, including coconut oil) within 30 days prior to Screening 8)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 9)Feeding or nutrition that, in the opinion of the dietitian, potentially affects consistent administration of study drug
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: Primary Objectives: •Evaluate the efficacy and safety of UX007 in the treatment of disabling paroxysmal movement disorders associated with Glut1 DS ; Secondary Objective: Evaluate the efficacy of UX007 compared to placebo, as measured by: • Duration of disabling paroxysmal movement disorder events observed during Maintenance Period of treatment, as recorded by the subject/caregiver in an event-based daily Glut1 DS symptom diary • Walking capacity and endurance, as determined by the distance walked in 12 minutes in the 12 Minute Walking Test • Patient/caregiver global impression of change in clinical status using the Clinical Global Impression – Improvement (CGI-I) • Health-related quality of life assessing physical function, mobility, upper extremity function, fatigue, pain and social health using a PROMIS®-based questionnaire • Cognitive function as measured by the Cambridge Neuropsychological Test Automated Battery (CANTAB) (assessed at select sites) ;Primary end point(s): The primary endpoint is the frequency of disabling paroxysmal movement disorders captured as movement disorder events observed during the Maintenance Period of treatment, as recorded by the subject/caregiver in an event-based daily Glut1 DS symptom diary. ;Timepoint(s) of evaluation of this end point: Daily Glut1 Symptom Diary review: Weeks 0,2,4,6,10,12,14,16,18,22,26,30,34,46,58,70,82,94,106,118,130,142,154,178 | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary end point(s): • Duration of disabling paroxysmal movement disorder events observed during Maintenance Period of treatment, as recorded by the subject/caregiver in an event-based daily Glut1 DS symptom diary • Walking capacity and endurance, as determined by the distance walked in 12 minutes in the 12 Minute Walking Test • Patient/caregiver global impression of change in clinical status using the Clinical Global Impression – Improvement (CGI-I) • Health-related quality of life assessing physical function, mobility, upper extremity function, fatigue, pain and social health using a PROMIS®-based questionnaire • Cognitive function as measured by the Cambridge Neuropsychological Test Automated Battery (CANTAB) (assessed at select sites) ; Timepoint(s) of evaluation of this end point: 12MWT: Weeks 0,10,12,22, 34, 58, 82, 106, 130, 154 PROMIS: Weeks 0,10,12,22,26,30,34,46,58,70,82,94,106,118,142,154,178 Patient/Caregiver CGI-I: Weeks 10,12,22, 34, 58, 82, 106, 130, 154 Duration of disabling paroxysmal movement disorders:Weeks 0,2,4,6,10,12,14,16,18,22,26,30,34,46,58,70,82,94,106,118,130,142,154,178 CANTAB: Weeks 0,10,12,22, 34, 58, 82, 106, 130, 154 | — |
Countries
Australia, France, Germany, Israel, Italy, Spain, United Kingdom, United States
Contacts
Public ContactClinical Operations
Ultragenyx Pharmaceutical Inc
Outcome results
None listed