Rare genetic syndromes under the microscope: what 800 participants could reveal

NCT ID NCT02447861

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

Summary

This study aims to learn more about the medical and behavioral effects of two rare genetic conditions: 3q29 deletion and 3q29 duplication syndromes. Researchers will collect health and behavior data from 800 participants, including those with the syndromes and healthy siblings. The goal is to better understand the range of challenges these individuals face, which could improve future care and support.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to
If successful, this study could provide a clearer picture of the medical and behavioral challenges linked to 3q29 syndromes, helping guide future care and support.
What could go wrong
This is an observational study, not a treatment trial, so it won't directly improve health. Results depend on participant reports and may not apply to everyone with these syndromes.

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Conditions

The condition(s) this trial relates to.

As listed by the trial registrant

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

Contacts and locations

Study contacts

  • Contact

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

  • Contact

    Email: •••••@•••••

Locations

  • Internet-Based

    RECRUITING

    Piscataway, New Jersey, 08854, United States

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

    Contact Email: •••••@•••••