Global hunt for clues on rare, devastating genetic disease

NCT ID NCT04885179

Summary

This study aims to learn more about a rare genetic condition called SPLIS by observing patients over time. Researchers will collect medical information and samples to understand how the disease progresses and affects different people. The goal is to build a patient registry and gather data that could help design future treatments. No new treatments are being tested in this study itself.

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes NO responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Contacts and locations

Study contacts

  • Contact

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

  • Contact

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

Locations

  • University of California San Francisco

    RECRUITING

    San Francisco, California, 94143, United States

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

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

Conditions

Explore the condition pages connected to this study.