TerminatedNot Applicable

Observational Study of Males With Creatine Transporter Deficiency

Stopped: Sponsor decision not related to safety concerns

United States50 participantsStarted 2016-12

Plain-language 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.

Who can participate

Age range6 Months – 65 Years

SexMALE

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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.

What they're measuring

Change Over Time Through Month 48 in the Bayley Scales of Infant and Toddler Development, 4th Edition (Bayley-4)

Timeframe: Month 48

Trial details

NCT IDNCT02931682

SponsorUltragenyx Pharmaceutical Inc

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2022-10-24

View on ClinicalTrials.gov More Creatine Deficiency, X-linked trials