Clinical data and biological samples are available through the ASXL-Related Disorders Natural History Study (principal investigator: Bianca Russell, MD) and Biobank (principal investigator: Valerie Arboleda, MD, PhD) at UCLA. These linked studies are funded primarily by the ARRE Foundation to develop collaborative research infrastructure to support clinical insights and enable discoveries.
Clinical data
The study currently includes 137 participants (as of February 2025), including:
- 78 participants with ASXL1 variants
- 10 participants with ASXL2 variants
- 49 participants with ASXL3 variants
Biological samples
Patient-derived biological samples, including RNA, DNA, PBMCs, and fibroblasts, are managed through the Rare Epigenetic and Chromatin Disorders (REACH) Biobank.
The biobank includes samples from 78 participants (as of February 2025), including:
- 42 samples from individuals with ASXL1 variants
- 5 samples from individuals with ASXL2 variants
- 31 samples from individuals with ASXL3 variants
How to use the study infrastructure
Using the study infrastructure, collaborators can:
- Request use of existing de-identified data
- Request biological samples
- Conduct a symptom- or system-specific survey or sub-study
Data use and access is governed by a steering committee. To contact the study team, please email asxl-chromatin-registry@mednet.ucla.edu.
