Data Collection
Patient data
Research
Clinical trials
New Treatments
The more individuals are represented in registries, databases and research studies, the stronger our understanding of SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD) becomes.
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Information about development, epilepsy, sleep, behaviour, treatments and changes over time helps researchers identify patterns, understand the natural history of the disorder and prepare for future clinical trials.
Patient data are also essential for developing meaningful outcome measures, identifying biomarkers and understanding whether a new treatment produces real benefit.
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For this reason, we strongly encourage families to take part in the available SLC6A1 data-collection initiatives.
Different registries and studies collect different types of information, and participation in more than one initiative can help create a more complete picture of SLC6A1-NDD.
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If you would like to participate but are unsure where to start, or if you have difficulties with registration, please contact us. We are here to help families through the process.
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Below you can find the main registries, databases and research studies currently collecting data on individuals with SLC6A1-NDD.
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1. SLC6A1 CONNECT PATIENT DATABASE
The SLC6A1 Connect Patient Database helps identify and connect individuals and families affected by SLC6A1-NDD around the world.
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By registering, families can stay connected with the SLC6A1 community and receive important information about research developments, future clinical trials and treatment opportunities.
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We strongly encourage every family affected by SLC6A1-NDD to register.
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Registration is simple, and knowing how many individuals are affected — and where they are located — is important as research and clinical development move forward.
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Need help registering?
Please contact us. We are happy to guide you through the process.
2. MATRIX NATURAL HISTORY STUDY
MATRIX hosts a Natural History Study for SLC6A1-NDD in collaboration with SLC6A1 Connect and CombinedBrain.
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The study collects information through surveys completed by patients, parents and caregivers. Families can also upload relevant medical records.
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Natural history studies are essential for understanding how SLC6A1-NDD develops and changes over time. The information collected can help researchers identify meaningful outcomes, prepare future clinical trials and better evaluate the effects of potential treatments.
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All families worldwide are encouraged to participate.
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The value of a natural history study grows as more individuals take part and continue providing information over time. Your participation helps build a stronger and more representative picture of the SLC6A1 community.
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Need help getting started or completing the questionnaires?
Please contact us. We are happy to support you through the registration process.
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3. SIMONS SEARCHLIGHT
Simons Searchlight is an international research program that collects long-term information from individuals with rare genetic neurodevelopmental conditions, including SLC6A1-NDD.
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Families are asked to provide the genetic report, medical history and complete online questionnaires about development, behaviour, seizures and other aspects of health and daily life.
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Participation does not end with registration. Families are encouraged to return regularly and keep their information up to date.
Following participants over time is especially valuable: it allows researchers to understand how SLC6A1-NDD changes across the lifespan and provides important longitudinal data for future research and clinical trials.
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We strongly encourage SLC6A1 families to register and to complete their yearly updates.
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If you are already registered, remember to check your dashboard regularly for new surveys and tasks. Simons Searchlight specifically asks participants to update their information every year.
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Need help registering or completing the surveys?
Please contact us. We are happy to help.
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4. INTERNATIONAL SLC6A1 PATIENT DATABASE, Danish Epilepsy Centre, Denmark
The Danish Epilepsy Center collects clinical information from individuals with SLC6A1-NDD worldwide in an international REDCap database.
REDCap (Research Electronic Data Capture) is a secure online platform developed by Vanderbilt University and widely used by hospitals, universities and research centres worldwide to collect and manage research data.
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The information collected has already contributed to important studies describing the clinical spectrum of SLC6A1-NDD and continues to support research into natural history, treatments and future clinical trials.
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To participate:
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1. Complete the informed consent form and send it to: Katrine Marie Johannesen, Danish Epilepsy Center: kamaa@filadelfia.dk or Sebastian Silva, Danish Epilepsy Center: sebsi@filadelfia.dk
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2. Complete the online questionnaire: REDCap SLC6A1 Survey
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Information can be entered by families themselves or by treating physicians.
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For questions or comments: Katrine M. Johannesen – Department of Clinical Genetics, Rigshospitalet & Department of Epilepsy Genetics and Precision Medicine, The Danish Epilepsy Center, Dianalund, Denmark, kamaa@filadelfia.dk