About the SPIRIT Study

What is the SPIRIT Study about?

Because SLC6A1-NDD is so rare, there isn’t a lot of data available on how the disorder presents and progresses over time. In order to develop new ways to help people living with SLC6A1-NDD, more data is needed. This is especially important for finding reliable methods to measure the effectiveness and safety of potential future treatments.

With the SPIRIT Study we want to help close that gap and better understand how SLC6A1-NDD develops over time. This study is observational, which means it only collects information and does not involve any treatment or therapy.

Who can participate?

In order to join the study, participants need to:

Be under 18 years of age
Have a diagnosis of SLC6A1-NDD with epilepsy, global developmental delay, autism spectrum disorder or intellectual disability
Have a confirmed mutation of the SLC6A1 gene
Not have another diagnosis that is known to contribute to epilepsy or NDD

Potential participants will need to meet other requirements to join the SPIRIT Study. The study team will tell you more.

How long will the study last?

This study is divided into 2 parts, a Baseline and an Observational Period. It will last approximately 2 years with 7 study visits in total.

After an initial Baseline Period of 4 weeks, you and your loved one will have to go to the study site every 3 months at first, and later every 6 months during the Observational Period.

If after joining you decide that you no longer want to take part, you and your loved one can leave the study at any time for any reason.

What else do I need to know?

During study visits, your loved one will have physical and neurological exams, have their vital signs (blood pressure, pulse, temperature), mental abilities and physical development checked, and receive a video EEG test to monitor their brain activity.

Around 60

participants

2

age groups  
(<6 and 6-17 years)

Around 2

years

7

study visits

6

countries

What happens at the study visits?

Study visits will take around 8 hours. You will undergo various tests and assessments at the study visits. The tests and assessments include (but are not limited to) the following:

Physical and neurological exams: A check of the participant’s overall physical health through observation and basic tests and a check of brain and nervous system function through tests of mental status, reflexes, and motor skills

Video electroencephalogram (EEG): A test that detects brain wave activity in the brain using small metal discs attached to the participant’s head (ideally over 24 hours but a minimum of 4 hours)

Assessments to measure your loved one’s mental abilities and physical development

Vital signs: Weight, height, and vital signs (blood pressure, pulse, breathing rate, and body temperature)

Swab sample from the inside of the cheek for genetic testing (at one of the visits)

Optional blood sampling (at one of the visits)

Answer questionnaires (on a tablet device that can be completed at home): to gather information on the participant’s health and well-being

Phone interviews with trained healthcare professionals about your loved one’s behavior (this can happen outside of the actual study visit)

Daily seizure diary: to gather information on any seizures the participant has (to complete at home)

While you will not receive any payment for taking part in this study, reimbursement for study related travel costs or meals may be provided.  

Before you decide to join the SPIRIT Study, the study team will explain everything related to the study in more detail, including the known risks and benefits, and you will have the opportunity to ask any questions you may have.  

Your loved one will not receive any study drugs as part of the study.

How can my loved one and I join the SPIRIT Study?

You can answer the questions in the eligibility questionnaire to see if your loved one might qualify for the SPIRIT Study and you can find a study center near you on the Find a study center page.

You will be told about the SPIRIT Study in more detail by the team at the study center, and they will also go through the Informed Consent Form (ICF) with you. An ICF is used to make sure you have all the information you need to make the best decision for yourself and your loved one about joining the clinical study.

See if your loved one may qualify Find a study center

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