ASXL Kidney and Bladder Health Survey

Currently enrolling participants

About the study

Dr. Bianca Russell and collaborating sites of the ASXL Registry are conducting a survey of families living with ASXL-related disorders about kidney and bladder health.

What we hope to learn from this study

The goal of the study is to determine if kidney-related health challenges affect individuals with ASXL-related disorders, and if so, what these challenges are and how frequently these challenges occur.

The findings of this survey may also support future research, such as screening guidelines for kidney-related health concerns.

Who is eligible to participate in the study

This study is open to anyone with an ASXL-related disorder, including ASXL1 (Bohring-Opitz Syndrome), ASXL2 (Shashi-Pena Syndrome), or ASXL3 (Bainbridge-Ropers Syndrome). There is no age limit.

How to participate in the study

The study will include one 10-20 minute electronic survey to be completed by a parent/caregiver.

An optional part of this survey is providing additional medical records that may be helpful to our understanding of any kidney- or urinary-related medical history your child has. If your child has experienced kidney- or urinary-related health challenges, the study team will follow up with you to review what medical records may be relevant to collect.

How we will share the results of the study with you

After the study concludes, a summary of the findings will be shared by email with participants. The study team will also share the results of the study with ASXL families through a virtual presentation hosted by the ARRE Foundation. The study team also anticipates preparing the results of this study for publication in a medical journal.

Next steps if you are interested in participating

To inquire about participating in the ASXL Kidney and Bladder Health Survey, please email research coordinator Julia Sloan at asxl-chromatin-registry@mednet.ucla.edu.

Note: You must be enrolled in the ASXL Registry at UCLA to participate in the Kidney and Bladder Health Survey. If your loved one is fully enrolled in the Registry, you will automatically receive the survey via email. To enroll or check your enrollment status in the ASXL Registry, please email research coordinator Julia Sloan at asxl-chromatin-registry@mednet.ucla.edu.