Last reviewed · How we verify
NCT05600946
Characterization of Dysmorphology in Subjects With Creatine Transporter Deficiency
trial in Cognitive Disorder in 19 participants. Currently enrolling.
1 September 2026
Quick facts
| Lead sponsor | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) |
|---|---|
| Status | Recruiting now |
| Study type | OBSERVATIONAL |
| Enrollment | 19 |
| Start date | 24 October 2022 |
| Primary completion | 1 September 2026 |
| Estimated completion | 1 September 2026 |
| Sites | 1 location across United States |
Conditions studied
- Cognitive Disorder — all drugs for Cognitive Disorder →
- Metabolic Disease — all drugs for Metabolic Disease →
- Autism Spectrum Disorder — all drugs for Autism Spectrum Disorder →
Sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Who can join
Adults 2 to 40, male only, with Cognitive Disorder or Metabolic Disease. Patients with the condition only — healthy volunteers not accepted.
Sponsor's own description
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....
Publications & conference data
1 peer-reviewed publication reference this trial (live from Europe PMC):
-
Delineation of Facial Dysmorphology in Males With Creatine Transporter Defect.
Perreault J, Porter FD, Nowaczyk MJM. · · 2026 · PMID 41735203 · DOI 10.1002/ajmg.a.70093
Verify or expand the search:
- PubMed search for NCT05600946
- Europe PMC full search
- ASCO Meeting Library
- ESMO Meeting Library
- bioRxiv preprints
- medRxiv preprints
- Google Scholar
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Verify against primary sources
- ClinicalTrials.gov — authoritative US registry record
- WHO ICTRP — international registry index
- EU Clinical Trials Register
- Sponsor press releases (Google)
- Trial protocol + status: ClinicalTrials.gov NCT05600946 (US National Library of Medicine, public domain)
- Publications: Europe PMC API search by NCT ID, retrieved 10 June 2026
- Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
- Sponsor: as reported to ClinicalTrials.gov by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Last refreshed: 16 September 2025
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT05600946.
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