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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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.
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
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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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Birmingham Children's Hospital NHS Foundation Trust
NOT_YET_RECRUITINGBirmingham, United Kingdom
Contact Email: •••••@•••••
Contact
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Boston Children's Hospital
RECRUITINGBoston, Massachusetts, 02115, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact
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Sant Joan de Deu Hospital Barcelona
ACTIVE_NOT_RECRUITINGBarcelona, Spain
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University Children's Hospital
RECRUITINGHeidelberg, Heidelberg, Germany
Contact Email: •••••@•••••
Contact
Conditions
Explore the condition pages connected to this study.