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Researchers launch registry to unlock secrets of rare genetic disorders

NCT ID NCT03303716

Recruiting now Knowledge-focused Sponsor: University of California, Los Angeles Source: ClinicalTrials.gov ↗

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study collects information from people with ASXL-related disorders (such as Bohring-Opitz syndrome) to better understand how these conditions progress and are managed. No new treatments are tested; instead, participants share their medical history and records through surveys. The goal is to improve future care and knowledge for these rare genetic conditions.

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Conditions

The condition(s) this trial relates to.

Bohring-Opitz syndrome severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Shashi-Pena syndrome

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

ASXL1 GENE MUTATION ASXL2 GENE MUTATION ASXL3 GENE MUTATION BAINBRIDGE-ROPERS SYNDROME BOHRING-OPITZ SYNDROME SHASHI-PENA SYNDROME

Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • University of California, Los Angeles

    RECRUITING

    Los Angeles, California, 90095, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

More trials for these conditions

Other studies related to the condition(s) this trial covers.