SLC6A1 Neurodevelopmental Disorder (NDD)SPIRITNCT07531511
SLC6A1-NDD Prospective Longitudinal Natural History Study
An observational study of SLC6A1 Neurodevelopmental Disorder (NDD) and Developmental and Epileptic Encephalopathies (DEE), run by UCB Biopharma SRL at 3 sites in 3 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 17 years
- Conditions the study is for
- SLC6A1 Neurodevelopmental Disorder (NDD), Developmental and Epileptic Encephalopathies (DEE)
- How many people
- 60 participants
- Where
- 3 sitesin 3 countries
- Study dates
- 21 Jul 2026to 25 May 2029
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 17 years
- All sexes
- No healthy volunteers
- Child
Study population: The study population comprises pediatric patients with a diagnosis of SLC6A1-NDD.
Who may be able to join
- 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).
Who cannot join
- 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.
Trial locations and contacts
3 sites in 3 countries. Contact the study team or a site near you to ask about taking part.
3 sites in 3 countries
United States1 site, 1 recruiting
- Recruiting
Gtep01 50614
New York, New York, 10021
About this study
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.
Read the 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.
- Conditions
- SLC6A1 Neurodevelopmental Disorder (NDD), Developmental and Epileptic Encephalopathies (DEE)
- Keywords
- SLC6A1- NDD, Natural history study
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Seizure frequency by type (countable seizures per 28 days) by visit as compared to Baseline
Measured: 2 years
Seizure free days per 28 days by visit as compared to Baseline
Measured: 2 years
Secondary outcomes (3)
Number and proportion of tests completed by visit
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.
Measured: 2 years
Patient retention (dropout by visit and reason for dropout)
Measured: 2 years
EEG over time: Number/proportion of tests completed by study patients by visit
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Apr 2026
- Study start21 Jul 2026
- Primary completion25 May 2029 (estimated)
- Study completion25 May 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for SLC6A1 Neurodevelopmental Disorder (NDD)Studies of the same condition, open and under way.
- More trials run by UCB Biopharma SRLThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 60 participants (estimated)
Sponsor and investigators
- Lead sponsor
- UCB Biopharma SRL
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- UCB Cares, Study director, 001 844 599 2273 (UCB)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07531511
- Sponsor's protocol ID
- GTEP01
- Other IDs
- EUPAS1000000861
- Acronym
- SPIRIT
- Status last verified
- Jul 2026
- First submitted
- 8 Apr 2026
- Last updated
- 31 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: Not yet confirmed
Study at a glance
From the registry record, last updated by the sponsor on 31 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- SLC6A1-NDD Prospective Longitudinal Natural History Study
- ClinicalTrials.gov ID
- NCT07531511
- Acronym / sponsor ID
- SPIRIT / GTEP01
- Conditions
- SLC6A1 Neurodevelopmental Disorder (NDD), Developmental and Epileptic Encephalopathies (DEE)
- Keywords
- SLC6A1- NDD, Natural history study
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 60 participants (estimated)
- Lead sponsor
- UCB Biopharma SRLIndustry (pharma, biotech, devices)
- Study start
- 21 Jul 2026 (actual)
- Primary completion
- 25 May 2029 (estimated)
- Study completion
- 25 May 2029 (estimated)
- First posted
- 15 Apr 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- Up to 17 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- The study population comprises pediatric patients with a diagnosis of SLC6A1-NDD.
Key inclusion criteria (4 listed)
- 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).
Key exclusion criteria (3 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
3 secondary outcomes
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 31 Jul 2026.
- Individual participant dataSharing planned: Undecided. Not yet confirmed
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
UCB Cares study director
001 844 599 2273 (UCB)
3 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of SLC6A1 Neurodevelopmental Disorder (NDD) and Developmental and Epileptic Encephalopathies (DEE), run by UCB Biopharma SRL at 3 sites in 3 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 31 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States, France, Spain. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact UCB Cares (+18445992273, ucbcares@ucb.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Seizure frequency by type (countable seizures per 28 days) by visit as compared to Baseline (time frame: 2 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 31 Jul 2026.