Rare brain disease study seeks clues to predict and treat SSADH deficiency

NCT ID NCT03758521

First seen Jan 19, 2026 · Last updated May 07, 2026 · Updated 19 times

Summary

This study follows up to 55 people with SSADH deficiency, a rare genetic disorder that affects brain function. Researchers will track symptoms, brain activity, and chemical changes over time to understand how the disease progresses. The goal is to find markers that predict severity and create a database for future treatments. Participants must have a confirmed diagnosis and be between 0 and 99 years old.

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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.