Rare disease mystery: scientists track Smith-Magenis syndrome for decades

NCT ID NCT00013559

First seen Nov 01, 2025 · Last updated May 12, 2026 · Updated 32 times

Summary

This study follows nearly 600 people with Smith-Magenis syndrome (SMS), a rare genetic condition, to learn how it affects their health, development, and behavior over time. Researchers at the National Institutes of Health will conduct detailed exams, genetic tests, and surveys to better understand the syndrome and its causes. The goal is to improve diagnosis and future treatments, not to test a new therapy.

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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

Locations

  • National Institutes of Health Clinical Center

    Bethesda, Maryland, 20892, United States

Conditions

Explore the condition pages connected to this study.