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20-Year study reveals hope for rare disease patients in western china

NCT ID NCT07327164

First seen Jan 11, 2026 · Last updated May 24, 2026 · Updated 19 times

Summary

This study looked at 1,200 people with neurocutaneous syndromes (NF1, TSC, SWS, VHL) in Western China over 20 years. Researchers compared those who received genetic testing, targeted drugs, and coordinated care to those who got standard care. The goal was to see if precision medicine could improve survival, control seizures, shrink tumors, and lower costs.

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Contacts and locations

Locations

  • West China Hospital of Sichuan University

    Chengdu, Sichuan, China

Conditions

Explore the condition pages connected to this study.