Observational Study of Males With Creatine Transporter Deficiency (Vigilan)
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|ClinicalTrials.gov Identifier: NCT02931682|
Recruitment Status : Terminated (Sponsor decision not related to safety concerns)
First Posted : October 13, 2016
Last Update Posted : November 14, 2022
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|Condition or disease|
|Creatine Deficiency, X-linked|
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 Type :||Observational|
|Actual Enrollment :||50 participants|
|Official Title:||Observational Study of Males With Creatine Transporter Deficiency|
|Actual Study Start Date :||December 2016|
|Actual Primary Completion Date :||October 24, 2022|
|Actual Study Completion Date :||October 24, 2022|
- Change Over Time Through Month 48 in the Bayley Scales of Infant and Toddler Development, 4th Edition (Bayley-4) [ Time Frame: Month 48 ]
Biospecimen Retention: Samples With DNA
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|Ages Eligible for Study:||6 Months to 65 Years (Child, Adult, Older Adult)|
|Sexes Eligible for Study:||Male|
|Accepts Healthy Volunteers:||No|
|Sampling Method:||Probability Sample|
- 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.
- 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.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02931682
|United States, California|
|University of California San Diego|
|La Jolla, California, United States, 92037|
|United States, Illinois|
|Rush University Medical Center|
|Chicago, Illinois, United States, 60612|
|United States, Maryland|
|National Institutes of Health Clinical Center|
|Bethesda, Maryland, United States, 20814|
|United States, Massachusetts|
|Boston Children's Hospital|
|Boston, Massachusetts, United States, 02115|
|United States, North Carolina|
|Duke University Medical Center|
|Durham, North Carolina, United States, 27710|
|United States, Ohio|
|Cincinnati Children's Hospital Medical Center|
|Cincinnati, Ohio, United States, 45229|
|United States, Pennsylvania|
|Children's Hospital of Philadelphia|
|Philadelphia, Pennsylvania, United States, 19104|
|United States, Texas|
|Texas Children's Hospital|
|Houston, Texas, United States, 77030|
|United States, Utah|
|University of Utah|
|Salt Lake City, Utah, United States, 84108|
|The Hospital for Sick Children|
|Toronto, Ontario, Canada, M5G 1X8|
|Study Director:||Medical Director||Ultragenyx Pharmaceutical Inc|
|Responsible Party:||Ultragenyx Pharmaceutical Inc|
|Other Study ID Numbers:||
UX068-CL001 ( Other Identifier: Ultragenyx Pharmaceutical Inc )
|First Posted:||October 13, 2016 Key Record Dates|
|Last Update Posted:||November 14, 2022|
|Last Verified:||November 2022|
|Individual Participant Data (IPD) Sharing Statement:|
|Plan to Share IPD:||No|