SLC6A1-NDD Prospective Longitudinal Natural History Study

NCT07531511 | Not Yet Recruiting

• 2 other identifiers: GTEP01EUPAS1000000861
• Study Type: observational
• Target: 60
• Locations: 0 countries
• Sites: N/A

Brief Summary

The overall objective of this prospective longitudinal natural history study is to collect clinical data to characterize and evaluate the natural course of SLC6A1-NDD and assess the feasibility of certain assessments for the purpose of conducting future clinical studies in patients with this disease.

Conditions

SLC6A1 Neurodevelopmental Disorder (NDD); Developmental and Epileptic Encephalopathies

Keywords

SLC6A1- NDD; Natural history study

Outcome Measures

Primary Outcomes (2)

• Seizure frequency by type (countable seizures per 28 days) by visit as compared to Baseline

  2 years

• Seizure free days per 28 days by visit as compared to Baseline

  2 years

Secondary Outcomes (3)

• Number and proportion of tests completed by visit

  2 years

• Patient retention (dropout by visit and reason for dropout)

  2 years

• EEG over time: Number/proportion of tests completed by study patients by visit

  2 years

Study Arms (2)

Age group 1 (< 6 years)

This age group consists of patients which are \< 6 years at the time of study enrollment.

Age group 2 (6 to 17 years)

This age group consists of patients which are between 6 and 17 years at the time of study enrollment.

Eligibility Criteria

• Age: Up to 17 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

The study population comprises pediatric patients with a diagnosis of SLC6A1-NDD.

You may qualify if:

• 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).

You may not qualify if:

• 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.

Sponsors & Collaborators

• UCB Biopharma SRL: lead

Study Officials

• UCB Cares

  001 844 599 2273 (UCB)

  STUDY DIRECTOR

Central Study Contacts

UCB Cares

CONTACT

+18445992273; ucbcares@ucb.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 8, 2026
• First Posted: April 15, 2026
• Study Start: April 1, 2026
• Primary Completion (Estimated): May 25, 2029
• Study Completion (Estimated): May 25, 2029
• Last Updated: April 15, 2026

Record last verified: 2026-04