Registry for patients with ASXL-related disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational registry focuses on the natural history, management, and treatment of patients diagnosed with Bohring-Opitz Syndrome, Shashi-Pena Syndrome, and Bainbridge-Ropers Syndrome. Participants will complete a series of surveys over time regarding their medical conditions, and researchers will collect primary medical records. The study is conducted in collaboration with several prominent children's hospitals and is supported by non-profit organizations dedicated to ASXL-related disorders. Data will be shared with participants and used for research publications while ensuring HIPAA compliance.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Clinical or molecular diagnosis of an ASXL related disorder

Exclusion Criteria:

* No clinical or molecular diagnosis of an ASXL related disorder

Where it's running

• University of California, Los Angeles
  Los Angeles, California, United States Recruiting

Study contacts

• Principal investigator: Wen-Hann Tan, BMBS — Boston Children's Hospital
• Study coordinator: Bianca Russell, MD
• Email: ASXL-CHROMATIN-REGISTRY@mednet.ucla.edu
• Phone: (310) 206-6581

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.