Rare disease mystery: can tracking SPLIS patients unlock its secrets?
NCT ID NCT06669949
First seen Aug 04, 2026 · Last updated Aug 05, 2026 · Updated 1 time
Summary
This study follows people with SPLIS, a rare inherited metabolic condition, to map its natural history—how the disease unfolds over time. Researchers will track growth, organ function, quality of life, and survival in about 28 participants. The goal is to understand the full range of symptoms and identify factors that predict outcomes, which could improve care and guide 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
- This study could help doctors predict how SPLIS progresses and identify factors that influence quality of life and survival, potentially guiding future treatments.
- What could go wrong
- As an observational study, it does not test any treatment, so it won't directly lead to a cure. The small number of participants (28) may limit how broadly the findings apply.
This is an AI summary of the original study and may miss details. Read our disclaimer.
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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
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University of California San Francisco
RECRUITINGSan Francisco, California, 94143, United States