Trials / Terminated
TerminatedNCT02931682
Observational Study of Males With Creatine Transporter Deficiency
- Status
- Terminated
- Phase
- —
- Study type
- Observational
- Enrollment
- 50 (actual)
- Sponsor
- Ultragenyx Pharmaceutical Inc · Industry
- Sex
- Male
- Age
- 6 Months – 65 Years
- Healthy volunteers
- Not accepted
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.
Conditions
Timeline
- Start date
- 2016-12-01
- Primary completion
- 2022-10-24
- Completion
- 2022-10-24
- First posted
- 2016-10-13
- Last updated
- 2022-11-14
Locations
10 sites across 2 countries: United States, Canada
Source: ClinicalTrials.gov record NCT02931682. Inclusion in this directory is not an endorsement.