What is a registry?

A registry collects data from a patient population to track the natural history, or progression, of a disease and how best to treat it.

Data for the registry can come from questionnaires completed by the patient’s family, information from the patient’s medical record, or biological samples, like blood or skin cells.

ASXL-Chromatin Disorders Registry

How it works

Patients and families (including angels) with mutations in ASXL genes or chromatin remodeling disorders are enrolled in our study which is approved by the hospital ethics committees. Parents complete simple questionnaires online about their child’s medical history and may submit photographs as well as test results and notes from their physicians. The information is kept on a secure server. Identified information can only be accessed by the researchers in charge of the study. De-identified content may be available to other researchers, members of the registry advisory board, and the study participants.

Our registry

We have created short questionnaires that a busy family can answer in 15-30 minutes. Angels will only be surveyed once but we will continue to provide updates about the Registry. Our questionnaires are organized into categories and ask questions that are important to you and researchers. The Registry Advisory Board is composed of family members who help to make sure that the registry best suits the needs of the community. With appropriate enrollment, we hope to have 2-3 questionnaires a year.

Participants will be updated about their data via a regular newsletter.

Registry newsletters

Why it matters

Rare diseases are just that: rare! It is hard for doctors to know how to best take care of patients when little is known about the disease including treatment and expected outcomes. But by joining together, families can share their experiences and knowledge through clinical registries. Your participation helps patients get better care by collecting important information that the medical community needs. A well run registry also helps produce scientific literature and leads to new research findings.

Learn more

To learn more about enrolling in the registry, please contact the research coordinator at UCLA by emailing ASXL-CHROMATIN-REGISTRY@mednet.ucla.edu. Please note that it may take up to two weeks to receive a response to your inquiry.