Glucose Transporter Type 1 deficiency syndrome MedDRA version: 19.1 Level: LLT Classification code 10061032 Term: Carbohydrate transport disorder System Organ Class: 100000004850
Conditions
Interventions
Product Name: Triheptanoin
Product Code: UX007
Pharmaceutical Form: Oral solution
INN or Proposed INN: no disponible
CAS Number: 620-67-
Sponsors
Ultragenyx Pharmaceutical Inc
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1)Diagnosis of Glut1 DS as indicated by cerebrospinal fluid glucose concentration, erythrocyte 3-O-methyl-D-glucose uptake assay, or molecular genetic testing obtained from medical records. 2)Males and females, aged at least 1 year at the time of informed consent 3)Completion of UX007G-CL201 study (NCT01993186). Glut1 DS patients who received UX007/triheptanoin treatment as part of other clinical studies, ISTs, or expanded access/compassionate use treatment programs may be eligible at the discretion of the sponsor. 4)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 5)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 6)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. 7)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. Are the trial subjects under 18? yes Number of subjects for this age range: 30 F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range 10 F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range 0
Exclusion criteria
Exclusion criteria: 1)Any known hypersensitivity to triheptanoin that, in the judgment of the investigator, places the subject at increased risk for adverse effects 2)History of, or current suicidal ideation, behavior and/or attempts 3)Pregnant and/or breastfeeding an infant 4)Unwilling or unable to discontinue use of a prohibited medication (i.e. barbiturates, pancreatic lipase inhibitors) or other substance that may confound study objectives. Use of up to 3 concomitant AEDs is allowed, provided dose has been stable at least 14 days prior to Baseline. 5)Use of any investigational product, drug or supplement (other than UX007) within 30 days prior to Baseline, or at any time during the study 6)Has a condition of such severity and acuity, in the opinion of the investigator, that it warrants immediate surgical intervention or other treatment 7)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 (e.g. other concurrent neurological or psychiatric disorders)
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: Evaluate the long-term safety of UX007 in Glut1 DS subjects; Secondary Objective: Evaluate the long-term effect of UX007 efficacy on seizures associated with Glut1 DS Evaluate the long-term effect of UX007 on health related quality of life related to Glut1 DS ;Primary end point(s): Frequency of adverse events (AE) and serious adverse events (SAE) assessed as related to study drug over the Treatment Extension Period;Timepoint(s) of evaluation of this end point: Month 0, 3, 6, 9, 12, 18, 24, 30, 36 | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary end point(s): •Frequency of seizures over the Treatment Extension Period •Measures of neurological function over the Treatment Extension Period •Health-related quality of life over the Treatment Extension Period ; Timepoint(s) of evaluation of this end point: •Frequency of seizures over the Treatment Extension Period :0, 3, 6, 9, 12, 18, 24, 30, 36 •Measures of neurological function over the Treatment Extension Period :0, 3, 6, 9, 12, 18, 24, 30, 36 •Health-related quality of life over the Treatment Extension Period :0, 3, 6, 9, 12, 18, 24, 30, 36 | — |
Countries
Australia, Denmark, France, Israel, Italy, Spain, United Kingdom, United States
Contacts
Public ContactClinical Operations
Ultragenyx Pharmaceutical Inc
Outcome results
None listed