Recruiting

Observational Study

Sponsor:

UCB Biopharma SRL

Code:

NCT07531511

Conditions

SLC6A1 Neurodevelopmental Disorder (NDD)

Developmental and Epileptic Encephalopathies (DEE)

Eligibility Criteria

Sex: All

Age: 0 - 17

Healthy Volunteers: Not accepted

Study Details

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 (DEE)

Study ID

NCT07531511

Start date

Jul 21, 2026

Status verified date

Jul, 2026

Completion date

May 25, 2029

Anticipated

Primary completion date

May 25, 2029

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 17

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

60 participants

Anticipated

Interventions and Outcome Measures

Arms

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.

Primary outcome measure

  • Seizure frequency by type (countable seizures per 28 days) by visit as compared to Baseline [ Time Frame: 2 years ]
  • Seizure free days per 28 days by visit as compared to Baseline [ Time Frame: 2 years ]

Central Contacts and Locations

Central contacts

UCB Cares

+18445992273ucbcares@ucb.com

Locations

Gtep01 50614

Recruiting

New York, New York, United States, 10021

More Information

Sponsor

UCB Biopharma SRL

Last update posted

Jul 31, 2026

Last verified

Jul, 2026

Keywords

  • SLC6A1- NDD
  • Natural history study

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by UCB Biopharma SRL on 2026-07-31.