Registry for patients with ASXL-related disorders
Natural History Study for the ASXL-Related Disorders and Chromatinopathies
This study is collecting information from patients with Bohring-Opitz, Shashi-Pena, and Bainbridge-Ropers Syndromes to learn more about their conditions and how to manage them better.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 200 (estimated) |
| Sex | All |
| Sponsor | University of California, Los Angeles Academic / other |
| Locations | 1 site (Los Angeles, California) |
| Trial ID | NCT03303716 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates are individuals with a clinical or molecular diagnosis of an ASXL-related disorder.
Not a fit: Patients without a clinical or molecular diagnosis of an ASXL-related disorder will not benefit from this registry.
Why it matters
Potential benefit: If successful, this registry could enhance understanding and management of ASXL-related disorders, leading to improved patient care.
How similar studies have performed: Other studies focusing on rare genetic disorders have shown success in improving patient outcomes through registry data collection.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Clinical or molecular diagnosis of an ASXL related disorder Exclusion Criteria: * No clinical or molecular diagnosis of an ASXL related disorder
Where this trial is running
Los Angeles, California
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.