Rare disease SPLIS under the microscope: new registry launches
NCT ID NCT04885179
First seen Nov 01, 2025 · Last updated May 20, 2026 · Updated 27 times
Summary
This study aims to learn more about a rare condition called SPLIS, caused by a genetic enzyme deficiency. Researchers will collect medical records, genetic information, and samples like blood and urine from up to 120 participants of all ages. No treatments are given; the goal is to track survival and disease progression to better understand SPLIS.
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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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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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University of California San Francisco
RECRUITINGSan Francisco, California, 94143, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact Phone: •••-•••-•••• Email: •••••@•••••
Conditions
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