Rare brain disorder study seeks clues to disease progression

NCT ID NCT03758521

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

Summary

This study tracks up to 55 people with SSADH deficiency, a rare genetic disorder that affects brain function. Researchers will measure symptoms, brain activity, and chemical levels in the body over time to see how the disease changes with age. The goal is to find markers that predict disease severity and build a database for future research.

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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

Locations

  • Birmingham Children's Hospital NHS Foundation Trust

    NOT_YET_RECRUITING

    Birmingham, United Kingdom

  • Boston Children's Hospital

    RECRUITING

    Boston, Massachusetts, 02115, United States

  • Sant Joan de Deu Hospital Barcelona

    ACTIVE_NOT_RECRUITING

    Barcelona, Spain

  • University Children's Hospital

    RECRUITING

    Heidelberg, Heidelberg, Germany