Research Room

Contribute directly to ASXL syndrome research

The Research Room is a critical opportunity for families living with ASXL syndromes to contribute data and biological samples to the research teams who are studying aspects of ASXL syndromes and other rare neurodevelopmental disorders. Please consider taking the opportunity to participate in research while you are at the ASXL Family Conference!

Did you know the most recent paper published about ASXL syndromes used biological samples collected from families at the 2018 and 2019 ASXL Family Conferences? Your participation can make a direct impact in advancing our knowledge of ASXL syndromes, how they work, and what families can expect over time.

Research Room hours
Luskin Conference Center

Friday, July 22
2:00-5:00pm

Saturday, July 23
7:00am-1:00pm

Appointments will be required to enroll in most studies. Please complete our Research Room participation interest survey and we will connect you to the research teams for the studies you may be eligible to join.

Studies enrolling participants

There are several research teams who will be enrolling families in studies at the ASXL Family Conference. If you have interest in participating in any of these studies, we will connect you to the research team for additional follow up and to determine your eligibility. Even if your child will not be attending the conference, virtual and/or remote enrollment may be possible for some studies.

We anticipate offering enrollment appointments for most studies in 20-minute increments on Friday, July 22 from 2-5pm and on Saturday, July 23 from 7am-1pm.

A brief description of each study is included below:

ASXL-Related Disorders Registry
A team from the University of California, Los Angeles will be enrolling participants in the ASXL-Related Disorders Registry, which counts the number of patients with BOS, SPS, and BRS and gathers information about symptoms and complications over time. Study enrollment includes completing an initial questionnaire with opportunities to complete future questionnaires.

ASXL-Related Disorders Biobank
A team from the University of California, Los Angeles will be enrolling participants in the ASXL-Related Disorders Biobank, which collects biological samples from individuals with Bohring-Opitz, Shashi-Pena, and Bainbridge-Ropers Syndromes. Study enrollment includes providing a blood sample. Requires appointment made in advance.

Facial imaging study
A team from the University of Southern California will be enrolling participants in FaceBase, a database of 3D craniofacial images. Study enrollment includes sitting for several photos of the participant's face and head.

If your loved one was photographed at the 2018 or 2019 conference, they may be eligible to be photographed again to document your loved one's facial changes.

Gait/movement study
A team from the University of California is studying the gait (walking movement) of individuals with neurodevelopment disorders. Participants with any ASXL syndrome who are ambulatory and non-ambulatory may be eligible to enroll. Study enrollment includes the participant walking on a specialized mat with sensors in it. Recommended that appointment made in advance. Sign up for a timeslot here

Bohring-Opitz Syndrome EEG study
A team from the University of California, Los Angeles is launching a new research study looking at the neurologic function and brain wave activity (EEGs) in children with Bohring-Opitz Syndrome. Study enrollment includes an in-home EEG. The research team will be available in the Research Room to answer questions about the study and enroll eligible participants. No appointment is necessary for this opportunity.

Simons Searchlight ASXL3 registry
Simons Searchlight is collecting data on individuals and families living with Bainbridge-Ropers Syndrome. Study enrollment includes completing an initial questionnaire with opportunities to complete future questionnaires.

Thank you to our parent volunteer Lauren Adams for coordinating the Research Room!