Project Summary

Background: ASXL-related disorders (ASXL-RDs) are rare, complex multi-system neurodevelopmental disorders caused by pathogenic variants in the ASXL genes with a high disease burden on patients and their family caregivers. It is estimated that there are approximately 500 individuals diagnosed globally and many more living undiagnosed. While research interest in ASXL-RDs is growing rapidly, there remains little understanding of the natural history or mechanisms of disease and there are no known treatments or standards of care. The variability and range of the spectrum of clinical features is not well documented and poses additional challenges for research into these conditions.

The ASXL Rare Research Endowment (ARRE) Foundation, the patient advocacy organization supporting research for ASXL-RDs, embarked on a multi-year project in 2022 to develop a research strategic plan informed by family needs and priorities to fill the many research gaps. Through a survey, families identified three priority domains that are most urgent to address: gastrointestinal-related challenges (GI), neurodevelopment (i.e., cognition, communication) and behavioral dysregulation.

Proposed Solution to the Problem: This project addresses an urgent unmet need to identify patient-centered outcomes research/comparative clinical effectiveness research (PCOR/CER) questions within these three priority domains that are meaningful to families and clinically relevant to healthcare providers. A multi-stakeholder convening will bring together patients, families, clinicians, researchers and others to define and prioritize PCOR/CER research questions within the three domains.

Objectives: The primary objectives of this meeting are to: 

  1. Educate families and the scientific community about PCOR/CER.

  2. To work together to generate prioritized PCOR/CER questions within the three priority domains: GI, neurodevelopment and behavioral dysregulation.


  1. Pre-workshop planning meetings with a Topic Group Team (TGT) comprised of family members, clinicians and researchers. 

  2. A workshop at the 2024 ASXL Family Conference with a large gathering of stakeholders to identify and prioritize research questions. 

  3. Post-convening meetings with the TGT to develop deliverables.

Projected Outcomes and Outputs: 

Short-term outcomes during the project period include:

  • Increase stakeholder awareness of the value of their input in PCOR/CER.
  • Develop stakeholder-generated and -prioritized research questions in the three priority domains.
  • Gain a better understanding of lived family experiences within the three symptom priority areas.

Medium-term outcomes (0-2 years post-project period) include:

  • Publish the findings of this convening.
  • Foster new PCOR/CER collaborations between stakeholders to address unmet needs using learnings from this convening.
  • Develop a research proposal(s) based on prioritized research questions.

Long-term outcomes (3+ years post-project period) include:

  • Develop a sustainable community culture of PCOR that is central to ASXL research.

Patient and Stakeholder Engagement Plan: Research priorities identified by families are the foundation of this project. Six family caregivers will be involved in project leadership and have a direct role in formulating the project’s design, implementation and dissemination of results. During the convening’s workshops, additional family stakeholders will directly contribute their knowledge to the project.

Project Collaborators: The primary project collaborator is Kennedy Krieger Institute, as the host of the convening and in providing faculty experts to design and administer the project.

Project Information

Amanda Johnson, B.S., M.A.
Natasha N. Ludwig, Ph.D.
ASXL Rare Research Endowment Foundation

Key Dates

December 2024


Project Status
State State The state where the project originates, or where the primary institution or organization is located. View Glossary
Last updated: April 12, 2024