Status:
RECRUITING
Relevant Outcome Measures for Creatine Transporter Deficiency Patient
Lead Sponsor:
Hospices Civils de Lyon
Conditions:
Creatine Transporter Defect
Eligibility:
All Genders
2-60 years
Phase:
NA
Brief Summary
Creatine transport deficiency (CTD) is a rare genetic disorder related to pathogenic variants in the SLC6A8 gene, located on chromosome Xq28. Clinical diagnosis of CTD is based on clinical presentatio...
Eligibility Criteria
Inclusion
- Inclusion Criteria:
- Male CTD patients (n=24)
- Male CTD patients having a confirmed mutation in the SLC6A8 gene,
- Aged \> 5 to \< 35 years
- Whose maternal language is French,
- Having signed the informed consent and/or for whom parents/legal guardian have signed the informed consent,
- Affiliated to national Health Insurance system or parents/legal guardian affiliated to national health insurance system.
- Female CTD patients (n=15)
- Female CTD patients having a confirmed mutation in the SLC6A8 gene,
- Aged \> 5 to \< 60 years,
- Whose maternal language is French,
- Having signed the informed consent and/or for whom parents/legal guardian have signed the informed consent.
- Affiliated to national Health Insurance system (sécurité sociale) or parents/legal guardian affiliated to national health insurance system
- Sex- and chronological age-matched controls (n=24)
- Male
- Aged \> 5 to \< 35 years
- Whose maternal language is French,
- Having signed the informed consent and/or for whom parents/legal guardian have signed the informed consent,
- Affiliated to national health insurance system or parents/legal guardian affiliated to national health insurance system.
- Sex- and chronological age-matched female controls (n=15)
- female,
- Aged \> 5 to \< 60 years,
- Whose maternal language is French,
- Having signed the informed consent and/or for whom parents/legal guardian have signed the informed consent
- Affiliated to national Health Insurance system (sécurité sociale) or parents/legal guardian affiliated to national health insurance system
- Sex- and mental age-matched controls (n=39)
- Male and female
- Aged \> 2 to \< 8 years
- Whose maternal language is French,
- For whom parents/legal guardian have signed the informed consent,
- Affiliated to national health insurance system or parents/legal guardian affiliated to national health insurance system.
- Typically developed children (n=80)
- Male and female
- Aged \> 2 to \< 8 years
- Whose maternal language is French,
- For whom parents/legal guardian have signed the informed consent,
- Affiliated to national health insurance system or parents/legal guardian affiliated to national health insurance system.
- Sex- and chronological age-matched controls and Sex- and mental age-matched controls, aged \< 8 years, could also be included in the Typically developed children group, as the data from the Typically developed children are only necessary to complete the developmental trajectory of the new tasks.
- Non-inclusion Criteria:
- CTD patients (n=39):
- Having a contraindication to the MRI examination (people using a pacemaker or an insulin pump, people wearing a metal prosthesis or an intracerebral clip, and claustrophobic subjects),
- Refusal of the subject and/or the subject's parents to be informed of possible abnormalities detected by MRI,
- Refusal of the subject and/or the subject's parents/legal guardian to be informed of possible abnormalities detected during the cardiac assessment.
- Sex- and chronological age-matched controls (n=39)
- History of neurological or psychiatric disorder,
- Repetition of a grade,
- Learning disability requiring rehabilitation (speech therapy, psychomotor or oculomotor therapy),
- For participants agreeing on performing the MRI examination, having a contraindication to the MRI examination (use of a pacemaker or an insulin pump, people wearing a metal prosthesis or an intracerebral clip, and claustrophobic subjects) and refusal of the subject and/or the subject's parents/legal guardian to be informed of possible abnormalities detected by MRI.
- Sex- and mental age-matched controls (n=39)
- History of neurological or psychiatric disorder,
- Repetition of a grade,
- Learning disability requiring rehabilitation (speech therapy, psychomotor or oculomotor therapy).
- Typically developed children (n=80)
- History of neurological or psychiatric disorder,
- Repetition of a grade,
- Learning disability requiring rehabilitation (speech therapy, psychomotor or oculomotor therapy).
Exclusion
Key Trial Info
Start Date :
March 13 2023
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
December 13 2026
Estimated Enrollment :
197 Patients enrolled
Trial Details
Trial ID
NCT06018519
Start Date
March 13 2023
End Date
December 13 2026
Last Update
December 2 2025
Active Locations (1)
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1
Woman, mother and child hospital, Hospices Civils de Lyon
Bron, France, 69500