Participate in a research study

Part of the onboarding process is telling the research team when you are available and when you ae not available, including any priority sessions you wish to attend. You will be scheduled for appointments during times that you indicate you're available.

Many families use a “divide and conquer” strategy where one caregiver will go with their child to research appointments while the other attends conference programming. Depending on your family situation, it may be helpful to bring additional caregivers to help support your participation if that’s an option available to you.

The Family Lounge will be open during research appointment times from Thursday-Sunday. This is a comfortable, family-centered place to hang out with other ASXL families between research appointments. If your family has a gap of time in the day where you are not scheduled for research appointments, you are free to use the time however you would like (explore Ann Arbor, go to the pool, rest, etc).

The ASXL Family Conference program begins Friday evening and ends mid-day Sunday. If your travel plans allow, arriving earlier or staying longer may make it easier to schedule research activities while still participating in conference sessions and family programming. Research appointments are available from 8am-5pm from Thursday-Sunday. Knowing your arrival and departure dates is a critical part of the scheduling process.

The number of research appointments you will have will depend on which studies you are enrolled in and which assessments are the best fit for your child as determined by the study team. Families who are fully enrolled in ALPS and CHAMPION will have up to 4 research appointments scheduled over 6.5 hours. Biosample collection, which includes the affected individual and sometimes parents/siblings, are additional appointments. Depending on your arrival and departure dates, these appointments will be spread out with time for breaks. 

Research appointments take place on the first floor of the Sheraton Ann Arbor in various ballrooms, conference rooms, and hotel guest rooms that have been converted into research offices. Your personalized schedule will direct you to the location and time of each appointment.

Meals are not provided for research participants outside of meals that are included with ASXL Family Conference registration (lunch on Saturday). Light snacks will be available in the Family Lounge. Visit the Plan Your Trip page for information about nearby restaurants and food options.

Generally, the study eligibility includes individuals with pathogenic variants in ASXL1, ASXL2, or ASXL3 AND individuals who do not have additional genetic variants that could influence their symptoms or clinical features. The study team will review your loved one’s genetic laboratory report and will advise you on specifics that may be unique to your child’s genetic variant that could influence your family’s eligibility for participation in each study. We strongly encourage you to reach out to the study team even if you think your child may not be eligible.

Yes! There are several opportunities to contribute to other informal data collection efforts at the conference that serve as “research readiness” efforts. These include the PCORI Severity Assessment Workshop, the “What’s not on this list?” Crowdsourcing workshop, and other opportunities to meet with researchers to share your experiences.

Yes! Please follow the outlined steps to engage with the UCLA research team, and advise them that your child will not attend the conference. They will guide your next steps to support participation in the remote parts of the study.

Re‑consent may be required as the study expanded in 2024 and updated consent documents may need to be signed again. Please consult with the UCLA study team to see if re-consent is required (email: asxl-chromatin-registry@mednet.ucla.edu).

One of the goals of the research studies are to understand changes over time. If you previously participated in ALPS or CHAMPION, your participation again helps build our understanding of what ASXL-related disorders look like over time.

Biological samples are placed in the biobank at UCLA. Researchers who are studying ASXL-related disorders can take and use these samples in their research. As more researchers engage and use these samples, we are grateful to you for considering an additional sample donation to the biobank to help keep it well stocked with these invaluable resources.