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Rare brain disorder study seeks clues from patients

NCT ID NCT03758521

First seen Jan 19, 2026 · Last updated May 20, 2026 · Updated 21 times

Summary

This study follows up to 55 people with SSADH deficiency, a rare genetic disorder that affects brain function, to see how symptoms and body chemistry change with age. Participants will have tests like blood draws and brain scans. The goal is to find patterns and markers that could help develop future treatments.

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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

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

Locations

  • Birmingham Children's Hospital NHS Foundation Trust

    NOT_YET_RECRUITING

    Birmingham, United Kingdom

    Contact Email: •••••@•••••

    Contact

  • Boston Children's Hospital

    RECRUITING

    Boston, Massachusetts, 02115, United States

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

    Contact

  • Sant Joan de Deu Hospital Barcelona

    ACTIVE_NOT_RECRUITING

    Barcelona, Spain

  • University Children's Hospital

    RECRUITING

    Heidelberg, Heidelberg, Germany

    Contact Email: •••••@•••••

    Contact

Conditions

Explore the condition pages connected to this study.