What we’ve learned from families participating in ASXL research

Insights from data collected at the ASXL Family Conference

The August 2026 study newsletter provides early insights into some of the research data collected at the 2026 ASXL Family Conference in June. Participating families completed questionnaires about communication, sleep, and feeding that are already helping researchers identify where future research could have the greatest impact.

The following insights are drawn from participants with ASXL1, ASXL2, and ASXL3-related disorders. The number of participants from each group (ASXL1, ASXL2, or ASXL3) is indicated by the “N” value for each disorder below. Because the majority of participants were caregivers of a child with a variant in the ASXL3 gene, many of these observations may be skewed toward the ASXL3 population. We are thankful for the strong show of participation from ASXL3 parents and strongly encourage ASXL1 and ASXL2 parents to participate in greater numbers in the future so that a more well-rounded understanding of all three ASXL-related disorders can be achieved.

• Communication: Researchers found that 94% of participants (N= 18 total participants; ASXL1=3, ASXL2=2, ASXL3=16) were using aided communication, such as AAC devices, iPads, pictures, symbols, or word cards. More than 80% of parents rated the impact of communication difficulties on quality of life as severe, while 52% identified communication as their loved one’s highest treatment priority. Nevertheless, 90% of the participating parents reported that their loved one was able to consistently communicate their likes and preferences, which indicates that communication devices have the potential to improve quality of life for a large majority of individuals. This kind of information helps ensure future research focuses on the outcomes that matter most to families, not just those that are easiest to measure.
• Sleep: The questionnaires also highlighted sleep as an important area for future research (N=21 total participants; ASXL1=3, ASXL2=2; ASXL3=16). More than three-quarters of families reported at least one current sleep problem, over half reported insomnia, and almost two-thirds said their loved one currently uses sleep medication or supplements. These findings reinforce that sleep affects not only the individual, but also family routines and quality of life.
• Feeding and gastrointestinal symptoms: Researchers also collected new information about feeding and gastrointestinal symptoms (N= 21 total participants; ASXL1=3, ASXL2=2, ASXL3=16). Around one in four participants currently received some or all of their nutrition or hydration through tube feeding or intravenous support, while many families reported ongoing challenges with chewing, swallowing, and keeping food in the mouth. Understanding how common these challenges are helps researchers identify where additional clinical guidance and future research are needed.
• Cortical visual impairment: Similarly, researchers have now assessed 41 participants (ASXL1=11, ASXL2=2, ASXL3=26) between the 2024 and 2026 ASXL Family Conferences and found that 80% showed behaviors consistent with cortical visual impairment (CVI), yet only 10% had previously received a diagnosis. While these findings represent only the participants assessed and do not establish how common CVI is across the wider ASXL community, they highlight an important area for both future research and clinical care. They also reinforce why increasing awareness of CVI is so important. If you think CVI may affect you or your loved one, we encourage you to explore our CVI resources to learn more about the condition and the support available.

Data sharing and study growth

Another encouraging update is that the data families have contributed is already supporting research beyond the Natural History Study itself. Through a structured data-sharing process, researchers from other institutions can apply to use study data to investigate new questions and build on existing findings. Six data-sharing requests from six independent institutions have already been received and approved, allowing expertise from across the research community to accelerate progress while respecting the privacy and contributions of participating families.

The study is also becoming increasingly representative of the global ASXL community. Today, 220 families from around the world are enrolled in the Natural History Study, while the REACH Biobank includes samples from 117 individuals. At this year’s ASXL Research Symposium and Family Conference alone, researchers completed 228 research visits, 116 ASXL Behavioral Phenotyping Study (ALPS) assessments, and 112 biobank visits. Every new family who joins strengthens the data and improves researchers’ ability to identify meaningful patterns across ASXL-related disorders.

We encourage you to read the full August 2026 ASXL-Related Disorders Natural History Study and Biobank newsletter to learn more about the latest research findings, conference updates, and study progress: https://arrefoundation.org/research/asxl-related-disorders-natural-history-study-and-biobank/

Every insight shared in this newsletter began with a family who chose to participate in research. Thank you to everyone who has contributed to the ASXL-Related Disorders Natural History Study and Biobank. If you have not yet joined the study, we encourage you to consider participating.

The ASXL-Related Disorders Natural History Study and Biobank is funded by the ASXL Rare Research Endowment (ARRE) Foundation as part of our long-term commitment to advancing research, improving clinical care, and preparing for future clinical trials for individuals living with ASXL-related disorders.