SLC6A1-NDD: A Longitudinal Look at How the Disorder Progresses

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This is a noninterventional, multicenter, longitudinal natural history study enrolling about 60 participants with SLC6A1-NDD across two age groups. Participants will have baseline and five follow-up visits over 2 years to collect clinical data and evaluate the feasibility of assessments for future trials. Data will be gathered from multiple countries to prepare for international clinical studies and help understand the natural course of the condition. The study does not involve an active treatment or intervention.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Patient with a diagnosis of SLC6A1-NDD characterized by epilepsy, global developmental delay, autism spectrum disorder, or intellectual disability, with a documented history of an SLC6A1 mutation, defined as pathogenic or likely pathogenic by the Investigator.
* Patients should not be older than 17 years at time of assent/consent.
* Patients under the age of 18 years with legal guardians providing informed consent. Assent will be obtained from any patients judged to have sufficient capacity to provide assent at the discretion of the Investigator.
* Patient and patient's caregiver are willing and able to comply with study requirements (including diary completion and visit schedule).

Exclusion Criteria:

* Patients and their caregivers are unable to complete follow-up visits.
* Patients with a history of an alternate diagnosis for disease, including a genetic cause, which is known to contribute to epilepsy or NDD.
* Patient is currently receiving an investigational product(s) other than 4-phenylbutyrate or has received an investigational product within 30 days or within \<5 times the half-life of the investigational product, whichever is longer, prior to the Enrollment Visit.

Where it's running

• Gtep01 50614
  New York, New York, United States Recruiting
• Gtep01 40131
  Strasbourg, France Recruiting
• Gtep01 40870
  Madrid, Spain Recruiting

Study contacts

• Study coordinator: UCB Cares
• Email: ucbcares@ucb.com
• Phone: +18445992273

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.