Cognitive DisorderNCT05600946
Characterization of Dysmorphology in Subjects With Creatine Transporter Deficiency
An observational study of Cognitive Disorder and Metabolic Disease, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 2 to 40 years, men only
- Conditions the study is for
- Cognitive Disorder, Metabolic Disease, Autism Spectrum Disorder
- How many people
- 30 participants
- Where
- 1 siteUnited States
- Study dates
- 24 Oct 2022to 1 Sep 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 40 years
- Men only
- No healthy volunteers
- Child, Adult
Study population: Patients with Creatine Transport Deficiency
Who may be able to join
- Patient is male and between 2-40 years of age, inclusive.
- Patient has genomic confirmation of a pathologic mutation in the SLC6A8 gene.
- Patient is able to complete study-related procedures within limitations imposed by condition under study.
- Patients parents/guardians/caregivers must provide written consent (informed consent) to study-related procedures, and if appropriate, the patient will provide an assent.
Who cannot join
- Patient has had status epilepticus within 3 months of screening.
- Patients has had a seizure that lasts 5 minutes or longer, and a second seizure without recovering consciousness from the first one, or if a person has repeated seizures for 30 minutes or longer.
- Patient is unable to comply with the study procedures or has a clinical disease or laboratory abnormality that in the opinion of the investigator would potentially increase the risk of participation.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY dial 711, ccopr@nih.gov
About this study
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.
Read more
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....
Read the detailed description
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
- Keywords
- Developmental Delay, Autism Spectrum Disorder, Children, Natural History
- Medical subject headings
- Cognitive Dysfunction, Metabolic Diseases, Autism Spectrum Disorder, Learning Disabilities
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Patients | Affected individuals that meet inclusion criteria |
What is being measured
The primary outcome is the main question the study is designed to answer.
dysmorphic features
To characterize the dysmorphic features in subjects with CTD
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Nov 2022
- Study start24 Oct 2022
- Primary completion1 Sep 2027 (estimated)
- Study completion1 Sep 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Cognitive DisorderStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Sponsor type
- US National Institutes of Health
- Collaborators
- McMaster University, Ontario, Canada
- Responsible party
- Sponsor
- Investigators
- Laverne G Mensah, M.D., Principal investigator, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05600946
- Sponsor's protocol ID
- 10001074
- Other IDs
- 001074-CH
- Status last verified
- 2 Jun 2026
- First submitted
- 27 Oct 2022
- Last updated
- 16 Sep 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 16 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterization of Dysmorphology in Subjects With Creatine Transporter Deficiency
- ClinicalTrials.gov ID
- NCT05600946
- Acronym / sponsor ID
- 10001074
- Keywords
- Developmental Delay, Autism Spectrum Disorder, Children, Natural History
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)US National Institutes of Health
- Collaborators
- McMaster University, Ontario, Canada
- Study start
- 24 Oct 2022 (actual)
- Primary completion
- 1 Sep 2027 (estimated)
- Study completion
- 1 Sep 2027 (estimated)
- First posted
- 1 Nov 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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....
Detailed description
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
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients | – | –Affected individuals that meet inclusion criteria |
Who may qualify
- Ages
- 2 to 40 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Patients with Creatine Transport Deficiency
Key inclusion criteria (4 listed)
Key exclusion criteria (3 listed)
- Patient has had status epilepticus within 3 months of screening.
- Patients has had a seizure that lasts 5 minutes or longer, and a second seizure without recovering consciousness from the first one, or if a person has repeated seizures for 30 minutes or longer.
- Patient is unable to comply with the study procedures or has a clinical disease or laboratory abnormality that in the opinion of the investigator would potentially increase the risk of participation.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
dysmorphic features
Time frame: 3 years
To characterize the dysmorphic features in subjects with CTD
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Sep 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Laverne G Mensah, M.D. principal investigator
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Cognitive Disorder and Metabolic Disease, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 16 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Derek M Alexander ((301) 827-0387, derek.alexander@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
dysmorphic features (time frame: 3 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Sep 2026.