Evaluating outcome measures for creatine transporter deficiency
Official title: A Prospective Study in Creatine Transporter Deficiency (SLC6A8) Patients to Determine the Most Relevant Outcome Measures
Run by Hospices Civils de Lyon · NCT06018519 · Data updated 2026-11-12
This study is trying to see how creatine transporter deficiency affects patients' lives and development by looking at their health and quality of life compared to others without the condition.
Quick facts
| Study type | Interventional |
|---|---|
| Ages | 2 Years to 60 Years |
| Sex | All |
| Enrollment | 197 (estimated) |
| Sponsor | Hospices Civils de Lyon Academic / other |
| Locations | 1 site (Bron) |
| Status | Recruiting |
| Started | March 13, 2023 |
| Main results expected | December 13, 2028 |
| Study ends | December 13, 2028 |
| Registry record updated | May 27, 2026 |
| Trial ID | NCT06018519 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include male and female patients aged 5 to 60 years with confirmed SLC6A8 gene mutations who speak French.
✕Probably not a fit
Patients without a confirmed mutation in the SLC6A8 gene or those who do not speak French may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This study focuses on creatine transporter deficiency (CTD), a rare genetic disorder caused by mutations in the SLC6A8 gene. It aims to assess various clinical endpoints, including parental questionnaires, quality of life scales, and cognitive and language assessments in affected patients. The study will involve male and female patients with confirmed mutations, as well as age-matched controls, to better understand the impact of CTD and the relevance of emerging therapeutic avenues. The research is conducted at the Hospices Civils de Lyon, utilizing a comprehensive approach to gather data on this condition.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of creatine transporter deficiency, potentially guiding future therapeutic interventions.
How similar studies have gone: While there is limited data on similar studies, the exploration of new therapeutic avenues for CTD is a relatively novel approach.
Who can join: the full rules
Show full inclusion / exclusion criteria
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).
Where it's running
-
Woman, mother and child hospital, Hospices Civils de Lyon
Bron, France Recruiting
Study contacts
- Study coordinator: Aurore CURIE, MD,PhD
- Email: aurore.curie@chu-lyon.fr
- Phone: 06 70 62 69 76
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.