SLC6A1-NDD Prospective Longitudinal Natural History Study
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: SLC6A1 Neurodevelopmental Disorder (NDD), Developmental and Epileptic Encephalopathies (DEE). Basic parameters: up to 17 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States, France, Spain
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Primary outcome measures
- 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]
Secondary outcome measures (3)
- Number and proportion of tests completed by visit [Time frame: 2 years]
- Patient retention (dropout by visit and reason for dropout) [Time frame: 2 years]
- EEG over time: Number/proportion of tests completed by study patients by visit [Time frame: 2 years]
Eligibility criteria
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
United States · 1 center
- Gtep01 50614 — New York
France · 1 center
- Gtep01 40131 — Strasbourg
Spain · 1 center
- Gtep01 40870 — Madrid
Identifiers
NCT: NCT07531511 · GTEP01 · EUPAS1000000861