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ASXL-Related Disorders Natural History Study

NCT03303716 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 200

Last updated 2025-12-26

No results posted yet for this study

Summary

A registry focused on the natural history, management and treatment of patients with Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2) and Bainbridge-Ropers Syndrome (ASXL3).

Conditions

  • Bohring-Opitz Syndrome
  • ASXL1 Gene Mutation
  • Shashi-Pena Syndrome
  • ASXL2 Gene Mutation
  • Bainbridge-Ropers Syndrome
  • ASXL3 Gene Mutation

Sponsors & Collaborators

Principal Investigators

  • Wen-Hann Tan, BMBS · Boston Children's Hospital

  • Loren Pena, MD, PhD · Children's Hospital Medical Center, Cincinnati

  • Vandana Shashi, MD, PhD · Duke University

  • Bianca Russell, MD · University of California, Los Angeles

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2017-09-20
Primary Completion
2037-09-30
Completion
2037-09-30

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03303716 on ClinicalTrials.gov