Official launch of IQSEC2 Natural History Study!
We are excited to share the official launch of the first international IQSEC2 Natural History Study! https://redcap.link/IQSEC2
We are inviting parents/caregivers of children with IQSEC2 mutations to complete an anonymous questionnaire. Your participation can make a real difference! By sharing your child’s experience, you are directly contributing to:
- A clearer understanding of the natural history of IQSEC2 disease
- Understanding the connections between genetic findings and symptoms
- The design of future clinical trials that focus on what matter most to you and your children
Why your participation matters: The more families who take part, the stronger and more meaningful the results will be. The questionnaire has been approved by international ethics boards, and your anonymity will be maintained.
The questionnaire is accessible in 7 languages (English, German, French, Italian, Spanish, Dutch and Polish). By participating, you are helping move the field forward-not just for your child, but for the entire community.
Thank you for considering being part of this important global effort!
Instructions: the PATRE IQSEC2 registration portal is now officially live in all seven languages: English, Spanish, French, Italian, German, Dutch, and Polish.
What the Pilot Study Covers
The questionnaires are designed to capture a comprehensive clinical picture, including:
- Basic Data
- Genetic Report Upload
- Development
- Behavior
- Epilepsy
The Process
To ensure we meet all international data protection and clinical standards, the workflow is as follows. This is a multi-step process with some manual steps but is the only way to ensure we meet global privacy standards that allow us to share data internationally.
- Registration: Please register initially at: https://redcap.link/IQSEC2 or scan the QR code pasted below.
- Consent Email: You will receive an automated email containing the links to our informed consent documents.
- Signature: Please complete the consent forms. Note: For legal and regulatory reasons, we require either “wet ink” signatures (scanned) or a valid digital signature inserted into the PDF.
- Upload: Upload the signed consent forms via the link provided in our email.
- App Access: Once we verify the consent, we will manually send you a secret QR code (this may take 1-2 days). This code will allow you to log into our dedicated app to complete the questionnaires.
