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Rare disease registry aims to unlock secrets of Shwachman-Diamond syndrome

NCT ID NCT06056908

First seen Apr 07, 2026 · Last updated May 24, 2026 · Updated 9 times

Summary

This study is a registry for people with Shwachman-Diamond Syndrome (SDS) or similar conditions. Researchers will collect medical information and biological samples from up to 5,000 participants to better understand the disease, its complications, and how it is treated. The goal is to improve diagnosis and care for patients with these rare disorders.

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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

    Email: •••••@•••••

  • Contact

    Email: •••••@•••••

Locations

  • Boston Children's Hospital

    RECRUITING

    Boston, Massachusetts, 02115, United States

    Contact Email: •••••@•••••

    Contact Email: •••••@•••••

  • Children's Hospital Colorado

    RECRUITING

    Aurora, Colorado, 80045, United States

    Contact Email: •••••@•••••

  • Cincinnati Children's Hospital Medical Center

    RECRUITING

    Cincinnati, Ohio, 45229, United States

    Contact Email: •••••@•••••

    Contact Email: •••••@•••••

  • Dana-Farber Cancer Institute

    RECRUITING

    Boston, Massachusetts, 02115, United States

    Contact Email: •••••@•••••

Conditions

Explore the condition pages connected to this study.