Rare disease mystery: NIH launches deep dive into Smith-Magenis syndrome

NCT ID NCT00013559

Completed Knowledge-focused Sponsor: National Human Genome Research Institute (NHGRI) Source: ClinicalTrials.gov ↗

First seen Jun 27, 2026 · Last updated Aug 14, 2026 · Updated 2 times

Summary

This study follows nearly 600 people with Smith-Magenis syndrome (SMS), a rare genetic condition, to track how their health, behavior, and development change over time. Researchers will perform detailed medical exams, genetic tests, and surveys to better understand the syndrome's causes and effects. The goal is to gather knowledge that could lead to better care and future treatments.

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Conditions

The condition(s) this trial relates to.

attention deficit-hyperactivity disorder autism Chromosome Aberrations Cornelia de Lange syndrome Down syndrome fragile X syndrome intellectual disability learning disability Parasomnias Prader-Willi syndrome Smith-Magenis syndrome

As listed by the trial registrant

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

SMITH-MAGENIS SYNDROME (SMS)

Contacts and locations

Locations

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

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