ASXL Census

There is power in numbers! The more people we can identify with ASXL-related disorders, the more powerful we can be in finding treatments. Demonstrating the size and strength of our community makes it easier to attract the attention of researchers, doctors, funders, and pharmaceutical companies who can help drive treatments forward.

The ASXL Census also demonstrates that we have a network of families worldwide who are interested and engaged in helping individuals with ASXL-related disorders live to their fullest potential.

The ASXL Census is an initiative led by the ARRE Foundation to establish a more accurate count of the number of people living with ASXL-related disorders, including Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2), and Bainbridge-Ropers Syndrome (ASXL3).

The ASXL Census is:

• A central place that shows how many people globally have an ASXL-related disorder.

• A tool to help identify more people who have an ASXL-related disorder (ASXL1, ASXL2, ASXL3).

• A fast and easy way for ASXL families to drive research forward.

• One way members of our community can be contacted to participate in research and clinical trials.

The ASXL Census is NOT:

• A public display of your personal information. Your name or other identifiable information will never be displayed or shared publicly.

• A clinical research study. No long questionnaires or medical records are required and you only need to participate once.

The ASXL Census aims to count anyone with any type of variant (mutation) on the ASXL1, ASXL2, or ASXL3 gene* that contributes to a neurodevelopmental disorder. Parents or primary caregivers and individuals who are 18 years of age or older with an ASXL-related disorder are invited to participate in the ASXL Census. Please only submit one census form per affected individual.

Parents and primary caregivers of children who have passed away are also invited to take the ASXL Census.

*This includes any type of variant including pathogenic, likely pathogenic or a variant of uncertain significance (also sometimes called a variant of unknown significance or VUS). Depending on the type and location of the ASXL variant, you/your child may also have a diagnosis of Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2), or Bainbridge-Ropers Syndrome (ASXL3) but this is not required to participate.

Your identifiable data will never be shared or sold to a third-party. The data you provide is used by the ARRE Foundation to a) report generalized information about the ASXL community and b) to share information with you.

a) Reporting generalized data: Generalized data means including your anonymized data in a summarized form with data from other census participants to show totals and trends. By submitting your data, you agree to have your anonymized data shared publicly in summary form. You also agree to have your anonymized location data (state/province and country only) displayed on the ASXL Census map.

b)  Sharing information with you: By submitting your data, you also agree to be contacted by the ARRE Foundation via email regarding research opportunities, requests for additional information, or other updates about how the ARRE Foundation funds research and provides educational resources and events. You can unsubscribe from educational and fundraising communications at any time.

If you wish to remove yourself from the ASXL Census, please contact info@arrefoundation.org.

The following data fields are collected in the ASXL Census. These data fields help support the following:

• State/province and country: The state/province or country helps determine locations for building relationships with doctors, sites for future clinical trials, and in-person gatherings for families and for research.

• Birth year: The year the person with an ASXL-related disorder was born allows us to estimate how many people have ASXL-related disorders within a given age range. This informs research and potential treatment partners how many people could participate in studies that have specific age parameters.

• Diagnosis year: The year the person with an ASXL-related disorder was diagnosed helps illustrate the diagnostic trend over time. The ability to demonstrate growth in our community is an important data point to encourage investments in research and treatments.

• Variant information and severity: Variant information (classification and inheritance) and severity are collected because this information is useful to researchers and pharmaceutical partners as they study ASXL-related disorders and explore treatments.

You can optionally provide your/your child’s variant classification and inheritance. This information is likely located in your/your child's genetic report, either in a data table in the report or written in the text of the report.

If you don’t have this information, please complete the form to the best of your ability with the information you have. You can update your data at any time by contacting us or selecting the option for us to reach out to you after you submit the form.

Please complete the ASXL Census form for each person in your family who has an ASXL-related disorder.

No, the ARRE Foundation will not share anyone’s private information submitted through the ASXL Census. The online support groups (links below) are the best way to connect with other families in your area.

• ASXL1/Bohring-Opitz Syndrome Facebook group

• ASXL2/Shashi-Pena Syndrome Facebook group

• ASXL3/Bainbridge-Ropers Syndrome Facebook group

You only need to complete this form once. If you have updates to your data after submitting the ASXL Census form, please contact us by emailing info@arrefoundation.org.

If you have other questions, please contact us at info@arrefoundation.org