NCT07531511 · UCB Biopharma SRL
SLC6A1-NDD Prospective Longitudinal Natural History Study
(SPIRIT)
What this study is about
The overall objective of this forward-looking 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.
View original scientific description
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.
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
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
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.
Where
- New York, New York
Related conditions & keywords
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Jul 31, 2026 · Source of record for eligibility and locations