New registry aims to unlock secrets of Ultra-Rare SPLIS disease
NCT ID NCT04885179
First seen Jun 24, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study collects medical and genetic information from people with SPLIS, a rare condition caused by a faulty enzyme. Researchers will track survival and when kidney problems start. No treatments are given, but the registry may help future research.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
What this could lead to
If successful, this registry could help doctors better understand SPLIS and improve future care for patients.
What could go wrong
This is an observational study with no treatment, so it won't directly help participants. It may take years to gather enough data to draw meaningful conclusions.
Disclaimer
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This is a summary of
the original study
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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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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
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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: •••••@•••••