Observational Study of Males With Creatine Transporter Deficiency
Trial Snapshot
- Phase
- Not Applicable
- Status
- Terminated
- Enrollment
- 50
- Locations
- 10
- Primary Endpoint
- Change Over Time Through Month 48 in the Bayley Scales of Infant and Toddler Development, 4th Edition (Bayley-4)
Study Overview
Brief Summary
The objectives of this study are to illustrate the clinical, neuro/electrophysiologic, biochemical, and developmental status and progression of patients with Creatine Transporter Deficiency (CTD) and to evaluate the utility of performance-based and other measures in the CTD population.
Detailed Description
This is an observational study designed to determine an appropriate clinical assessment battery for males with CTD, and to evaluate Magnetic resonance spectroscopy (MRS) along with other potential biomarkers. It is designed to explore developmental domains of interest and to examine the feasibility and utility of various neuropsychological assessments to measure domains of interest, and to identify possible endpoints for interventional studies. Study will also explore genotype-phenotype correlations.
Clinical adverse events will be monitored throughout the study.
This study was previously posted by Lumos Pharma, which has been transferred to Ultragenyx in June 2019.
Study Design
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Prospective
Eligibility Criteria
- Ages
- 6 Months to 65 Years (Child, Adult, Older Adult)
- Sex
- Male
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •Subject has genomic confirmation of a pathologic mutation in the SLC6A8 gene.
- •Subject is able to complete study-related procedures.
- •Subjects' parents/guardians/caregivers must provide written consent (informed consent) to study-related procedures, and if appropriate, the subject will provide an assent.
Exclusion Criteria
- •Subject has had status epilepticus within 3 months of screening.
- •Subject is unable to comply with the study procedures or with a clinical disease or laboratory abnormality that in the opinion of the investigator would potentially increase the risk of participation.
Outcomes
Primary Outcomes
Change Over Time Through Month 48 in the Bayley Scales of Infant and Toddler Development, 4th Edition (Bayley-4)
Time Frame: Month 48
Secondary Outcomes
No secondary outcomes reported