Developmental and Epileptic Encephalopathies (DEE), SLC6A1 Neurodevelopmental Disorder (NDD)
Conditions
Keywords
SLC6A1- NDD, Natural history study
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.
Detailed description
GTEP01 is a noninterventional, multicenter, multinational, prospective longitudinal natural history study that will be conducted in different countries/languages to prepare for future international clinical studies. The aim of this study is to characterize the natural course of SLC6A1-NDD through collecting clinical data longitudinally. Approximately 60 patients with SLC6A1-NDD are planned to be enrolled within 2 age groups, a minimum of approximately 20 patients in each of the 2 age groups. The study consists of Enrollment and Baseline visits followed by 5 study visits over a 2-year Observational Period.
Interventions
None listed
Sponsors
UCB Biopharma SRL
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
No minimum to 17 Years
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| Number and proportion of tests completed by visit | 2 years | Number and proportion of scheduled assessments completed by participants at each study visit for domains relevant to the natural history of SLC6A1 NDD, including epileptic seizures, neurodevelopment, behavioral, communication, sleep, and overall symptom severity. |
| 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 | — |
Countries
France, Spain, United States
Contacts
CONTACTUCB Cares
STUDY_DIRECTORUCB Cares
001 844 599 2273 (UCB)
Outcome results
None listed