Vigilan Observational Study of Males with Creatine Transporter Deficiency
The Vigilan study aimed to investigate how creatine transporter deficiency (CTD) affects males over time, and which assessments could be appropriate to measure the signs and symptoms of CTD. The study recruited 50 males aged 18 months to 24 years old with genetically confirmed CTD from the United States of America and Canada. Participants were followed up every 3 to 12 months from 2017 to 2022.
Study design
Cohort, Cohort - clinical
Number of participants at first data collection
50 (participants)
Age at first data collection
18 months - 24 years (participants)
Participant year of birth
Varied (participants)
Participant sex
Male
Representative sample at baseline?
No
Sample features
Countries
Year of first data collection
2017
Primary Institutions
National Institute of Child Health and Human Development (NICHD)
Links
childrenshospital.org/clinical-trials/nct02931682
clinicaltrials.gov/study/NCT02931682
doi.org/10.1038/s41436-021-01224-8
ultrarareadvocacy.com/wp-content/uploads/2024/06/Vigilan-PLS-FINAL.pdf
Profile paper DOI
Funders
Lumos Pharma
National Institutes of Health (NIH)
Ultragenyx Pharmaceutical Inc.
Ongoing?
No
Data types collected
- Computer, paper or task testing (e.g. cognitive testing, theory of mind doll task, attention computer tasks)
- Interview – online
- Interview – phone
- Physical or biological assessment (e.g. blood, saliva, gait, grip strength, anthropometry)
- Self-report questionnaire – unspecified
- None
- Electroencephalography (EEG)
- Magnetic Resonance Imaging (MRI)
- Magnetic Resonance Spectroscopy (MRS)
- None
Engagement
Keywords
