Data collection

 

 

Sharing health information is an act of responsibility towards our community.

 

To fully understand the impact of the SLC6A1 mutation, it is essential to collect as much data as possible: descriptions of symptoms (epilepsy, sleep disorders, aggression, intellectual disability, and others), responses to treatments, and disease progression over time.

 

A new therapy can only be approved if we demonstrate with real data that it brings significant improvements compared to the natural course of the disease. Statistics, testimonials, and questionnaires form the foundation for research and the development of effective treatments. Moreover, this data helps direct scientific research priorities toward what is truly important for affected families.

 

If you experience any difficulties filling out the questionnaires, please don’t hesitate to contact us.

For Europe: advocates@slc6a1europe.org
For Switzerland: michelle.aldini.parise@slc6a1europe.org

 

 

1. SLC6A1 DATABASE BY SLC6A1 CONNECT

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The SLC6A1 Database by SLC6A1 Connect is a global tool that collects clinical and genetic data from patients with the SLC6A1 mutation, providing researchers with valuable information to understand the disease and develop targeted therapies. It links data from different studies and registries for large-scale comparisons and analyses.

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SLC6A1 Database

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2. MATRIX

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Matrix is a platform that allows the secure organization, management, and sharing of patient data, ensuring confidentiality. It helps researchers systematically track symptoms, disease progression, and treatment responses.

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Matrix

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3. SIMONS SEARCHLIGHT

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Simons Searchlight is an international research registry dedicated to rare genetic diseases, including the SLC6A1 mutation. The project is managed by the Simons Foundation, one of the most recognized organizations in genetic and neurological research. Its aim is to securely, voluntarily, and confidentially collect genetic, clinical, and behavioral data from families worldwide to better understand disease progression, identify common patterns, stimulate medical and pharmaceutical interest, and promote the development of clinical trials.

Registration is free, online, and can be completed from home. The site is available in multiple languages, including English, French, German, and Italian, making it accessible to Swiss families. Participants who complete the questionnaires also receive a gift card valid at various retailers in Switzerland.

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Official website: www.simonssearchlight.org

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4. SLC6A1 DATABASE OF THE DANISH EPILEPSY CENTER

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The SLC6A1 database of the Danish Epilepsy Center is a RedCap platform designed to collect information on all aspects of the clinical profile of individuals with SLC6A1-NDD.

RedCap is a software developed by Vanderbilt University (USA) and is now used by thousands of hospitals, universities, and research centers worldwide.

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The study enables in-depth analyses of the clinical manifestations of patients with an SLC6A1 mutation and helps prepare for future clinical trials.

 

To participate, please:

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1. Complete the informed consent form (available for download) and send it to:

   • Katrine Marie Johannesen, Danish Epilepsy Center: kamaa@filadelfia.dk

   • or Sebastian Silva, Danish Epilepsy Center: sebsi@filadelfia.dk

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.

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