Enroll in a research study
The center of our mission is to support research to improve our understanding of the ASXL gene family and how we can improve care for those with ASXL syndromes. There are several research studies currently under way that include clinical research (understanding the medical aspects of ASXL syndromes) and basic or translational research (understanding how the ASXL genes work and what they do). Most of these researchers provide updates on their work at the annual ASXL Research Symposium.
We also keep a list of all relevant published research and have additional detail on ARRE Foundation-funded research projects in lay-friendly terms for families.
Clinical research
ASXL Registry and Biobank
Continually enrolling
The ASXL Registry, which is led by Dr. Bianca Russell at UCLA, counts the number of patients with Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2), and Bainbridge-Ropers Syndrome (ASXL3) and gathers information about symptoms and complications over time. Study enrollment includes completing an initial questionnaire with opportunities to complete future questionnaires. Participants may also enroll in the biobank, which collects biological samples (typically blood) to be used in research studies. This study is funded in part by the ARRE Foundation.
ASXL Kidney and Bladder Health Survey
Currently enrolling
Help us learn more about kidney and bladder health in ASXL-related disorders! Anyone with an ASXL-related disorder (Bohring-Opitz, Shashi-Pena, or Bainbridge-Ropers Syndrome) of any age is eligible to participate in the ASXL Kidney and Bladder Health Survey. Study participation includes a 10-20 minute electronic survey to be completed by a parent/caregiver with the option to share medical records that may help researchers understand your child’s experience with kidney-related health concerns.
Natural history study for ASXL3-related neurodevelopmental disorder (Bainbridge-Ropers Syndrome)
Currently enrolling
Dr. Meena Balasubramanian and Dr. Emily Woods at the University of Sheffield are launching a longitudinal (long term) research project to study ASXL3-related disorder (Bainbridge-Ropers Syndrome) over time. This study includes attending a clinic visit (virtual or in person) and completing a questionnaire each year to track your loved one’s progress over time. There is additional optional opportunity to provide a blood or skin biopsy sample.
CHAMPION Study (Chromatinopathies and Autism: Motor Phenotyping and Indicators of Neurodevelopment)
Currently enrolling
This study is being led by Dr. Rujuta Wilson, MD, a researcher and behavioral child neurologist at UCLA who studies motor development in children. We are enrolling children 1 to 5 years old with ASXL-related disorders or other Chromatin Modifying Disorders (also known as chromatinopathies). This research hopes to develop better tools/methods to help us identify, monitor, and evaluate delays as well as come up with better treatment and therapeutic options. This study is being conducted in-person at UCLA and virtually.
Simons Searchlight ASXL3 registry
Currently enrolling
Simons Searchlight is collecting data on individuals and families living with ASXL3-related disorder (Bainbridge-Ropers Syndrome). Study enrollment includes completing an initial questionnaire with opportunities to complete future questionnaires.
Interest In Smart Toilets Among Individuals with Neurodevelopmental Conditions, or their Caregivers
Currently enrolling
Researchers are developing a new Smart Toilet to help collect data from bowel movement in the subject’s home. The Smart Toilet temporarily stores stool in the plumbing after the flush (not in the bowl) and records data with electronic sensors. It fits in a bathroom like a standard toilet and connects to Wi-Fi. Because some individuals with neurodevelopmental conditions may have difficulty self- reporting GI symptoms and toileting habits, the Smart Toilets have the potential to help identify relevant information and communicate it to relevant people like caregivers, clinicians, and researchers. The goal of this study is to assess interest in smart toilets among individuals with neurodevelopmental conditions, or their caregivers.
Bohring-Opitz Syndrome EEG study
Enrollment complete
Help us learn if individuals with Bohring-Opitz Syndrome have a distinct brainwave pattern! The purpose of this study is to establish if a pattern of distinct brainwaves can be used as a biomarker for Bohring-Opitz Syndrome in future clinical trials. Biomarkers are critical tools in the journey to finding treatments, because they allow us to measure an individual’s status before and after an intervention (like a drug) to see if there is a change.
Inchstone Project survey
Enrollment complete
This research project is sponsored by the Inchstone Project, a collaborative effort of patient advocacy groups representing severely affected individuals and clinicians who are experts in outcome measurement. This project is dedicated to filling the enormous gap in the ability of existing assessment measures to capture and reliably measure the small but meaningful “inchstones” our severely affected children achieve. Most existing assessment measures just say our children can’t do anything. We know that is not true and we need measures that can capture what they can do and what they continue to learn to do.
Bainbridge-Ropers Syndrome - A Natural History Study Cohort Study
Enrollment complete
This study will investigate the severity of symptoms experienced by people with Bainbridge-Ropers syndrome and the effects these symptoms have on both the patient and their carers. This study aims to help inform clinical management of people with Bainbridge-Ropers syndrome (BRS).
Shashi-Pena Syndrome (ASXL2) data collection
Enrollment complete
A team at Duke University and Cincinnati Children’s Hospital is collecting data about individuals with Shashi-Pena Syndrome. Please contact Rebecca Spillman at rebecca.crimian@duke.edu to inquire about participating.
ASXL Puberty Survey
Enrollment complete
Help us learn more about how puberty impacts individuals with ASXL syndromes! Anyone with an ASXL syndrome of any age is eligible to participate in the ASXL Puberty Survey conducted by a research team at UCLA. Study participation includes a 10-20 minute electronic survey to be completed by a parent/caregiver with the option to share medical records that may help researchers understand your child’s growth and development (such as bone scans, medical imaging, and growth charts).
Basic and translational research
Valerie Arboleda, MD, PhD
University of California Los Angeles, United States
@arboledaval
ARRE Foundation-funded grant project: Molecular and clinical biomarker development for Bohring-Opitz Syndrome
Rosanna Weksberg, MD, PhD
The Hospital for Sick Children, Canada
ARRE Foundation-funded grant project: Development and diagnostic applications of ASXL1 and ASXL3 DNA methylation signatures
Micha Drukker, PhD
Leiden University, Netherlands
@drukkermicha
ARRE Foundation-funded grant project: Establishment of stem cell models and enteric nervous system screening platforms for ASXL disorders
Feng-Chun Yang, PhD
UT Health San Antonio, United States
ARRE Foundation-funded grant project: Identifying molecular targets for ASXL1 alteration-associated BOS
Dale Frank, PhD
Technion – Israel Institute of Technology, Israel
ARRE Foundation-funded grant project: Utilizing early Xenopus laevis (frog) neural development as a platform for understanding Bainbridge-Ropers Syndrome