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NCT05600946 · ClinicalTrials.gov registry record

Characterization of Dysmorphology in Subjects With Creatine Transporter Deficiency

A clinical trial of Autism Spectrum Disorder and Metabolic Disease, sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).

Recruiting
Registry status
19
Enrollment target
1
Study location

NCT05600946 is a study of Autism Spectrum Disorder and Metabolic Disease that is actively recruiting participants, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). The registered enrollment target is 19 participants, below the 135-participant average among 224 other Autism Spectrum Disorder trials with a reported enrollment target (86% lower). The trial reports 1 study location across 1 state.

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The verdict

NCT05600946, a study of Autism Spectrum Disorder and Metabolic Disease, is actively recruiting participants, sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).

RECRUITING
Registry status
19 participants
Enrollment target
1
Study location

Study Summary

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 Locations (1)

Maryland

  • National Institutes of Health Clinical Center - Bethesda

Trial Details

FieldValue
Enrollment Target 19 participants
Start Date 2022-10-24
Est. Completion 2026-09-01

What the Registry Record Tells You About NCT05600946

The ClinicalTrials.gov registry entry for NCT05600946 describes a study currently listed as recruiting, categorized as an unspecified phase. The registered enrollment target is 19 participants, a figure that helps gauge the scale of data the investigators plan to collect, below the 135-participant average among 224 other Autism Spectrum Disorder trials with a reported enrollment target (86% lower). The listed sponsor is Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), which has 305 total studies on file at ClinicalTrials.gov.

The record links to 3 conditions, with Autism Spectrum Disorder appearing as the primary indexed condition, and to 0 interventions.

NCT05600946 reports 1 study location spanning 1 distinct geographic area - top geographies include Maryland.

Frequently Asked Questions

What is clinical trial NCT05600946 about?

NCT05600946 is a clinical study titled "Characterization of Dysmorphology in Subjects With Creatine Transporter Deficiency". 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 con...

What is the current status of trial NCT05600946?

This trial is currently recruiting. The enrollment target is 19 participants. The study started on 2022-10-24. Estimated completion is 2026-09-01.

What conditions does trial NCT05600946 study?

This clinical trial studies the following conditions: Autism Spectrum Disorder, Metabolic Disease, Cognitive Disorder.

Who is sponsoring clinical trial NCT05600946?

This trial is sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), which has 305 total clinical trials registered on ClinicalTrials.gov.

Where is trial NCT05600946 being conducted?

This trial has 1 study location across Maryland. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.

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