Rare disease SPLIS under the microscope: new registry aims to unlock secrets
NCT ID NCT04885179
First seen Nov 01, 2025 · Last updated May 01, 2026 · Updated 25 times
Summary
This study collects medical and genetic information from people with SPLIS, a rare enzyme deficiency, to better understand the disease. No treatments or interventions are given. Participants of all ages, including family members and healthy volunteers, can join. The goal is to track survival and other health outcomes over time.
Disclaimer
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This is a summary of
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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: •••••@•••••
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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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