An observational study in Cognitive Disorder, Metabolic Disease and Autism Spectrum Disorder, sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). Recruiting at 1 site in United States. Open to male participants aged 2 Years to 40 Years. Per ClinicalTrials.gov, last updated 2026-09-16.
Sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Observational
Background:
Creatine transporter deficiency (CTD) is a genetic disorder that mainly affects the brain in males. CTD causes intellectual disability that can be mild to severe. People with CTD may have seizures and behavioral issues. They may have slow growth and tire easily. CTD may sometimes be confused with autism or other disorders. Better diagnostics are needed. The study team in an NIH study noted that the faces of children with CTD can look similar. For this natural history study, an expert will examine photos of children with CTD. Any shared traits found might help to diagnose CTD.
Objective:
To look for shared facial features of children with CTD.
Eligibility: Males aged 2 to 40 years old with CTD who were in study 17-CH-0020.
Design:
Some participants in study 17-CH-0020 had pictures taken of their faces. The NIH study team wants to share these photos with a colleague in Canada. This person is an expert at evaluating how genetic disorders affect people s bodies.
Participant data collected during the study may also be sent to this expert. This data may include diagnostic images and results from lab tests.
Some children did not have their pictures taken during study 17-CH-0020. Parents are asked to take pictures of these children and send them to the study team. These photos can be sent to a secure portal. The photos can also be taken in-person during a clinic visit.
The photos may be printed in clinical study journals. But this is not required. Parents will be asked to sign a separate consent before the photos are published....
Study Description:
The purpose of this study is to evaluate photographs of subjects enrolled in Creatine Natural History Study of Males with Creatine Transporter Deficiency (CTD) based on our observation that many of these subjects have common craniofacial features. This will involve the participation of an outside investigator who has significant expertise in dysmorphology. We seek to determine whether specific dysmorphic features exist in this population.
Objectives:
Primary Objective: To characterize the dysmorphic features in subjects with CTD
3,872 studies on the registry are indexed under Cognitive Dysfunction; 1,119 are open to participants now.
This study's planned enrollment of 30 is below the median of 150 across 997 observational studies indexed under Cognitive Dysfunction.
Browse Cognitive Dysfunction studies →Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) is the lead sponsor of 422 studies on the registry; 24 are open to participants now.
Of its 14 completed or terminated interventional studies of FDA-regulated products, 11 (79%) have results posted.
Counted across the registry records on this site, refreshed daily.
Patients with Creatine Transport Deficiency
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Patient is male and between 2-40 years of age, inclusive.
EXCLUSION CRITERIA:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Affected individuals that meet inclusion criteria
dysmorphic features
To characterize the dysmorphic features in subjects with CTD
Time frame: 3 years
Plan to share: Undecided
Started Oct 2022 (actual). Primary completion is estimated for Sep 2027, 58 months after the start.
Of 504 non-industry observational studies under Cognitive Dysfunction, half reached primary completion within 49 months of starting (the median), counting those still running; a quarter within 22 and three quarters within 118. This study's planned 58 months is above that.
Counting every sponsor, half of 543 studies reached it within 47 months; a quarter within 21 and three quarters within 118.
How these figures are worked out, and which studies are left out of them.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
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Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) →