Observational Study of Males With Creatine Transporter Deficiency (NCT02931682) | Clinical Trial Compass
TerminatedNot Applicable
Observational Study of Males With Creatine Transporter Deficiency
Stopped: Sponsor decision not related to safety concerns
United States, Canada50 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 range
6 Months – 65 Years
Sex
MALE
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Change Over Time Through Month 48 in the Bayley Scales of Infant and Toddler Development, 4th Edition (Bayley-4)