Precision Medicine for Neurocutaneous Syndromes in Western China

The goal of this observational study (retrospective multicenter cohort study) is to learn if precision medicine approaches-including genetic testing, targeted drugs, and coordinated care from multiple specialists-can improve health outcomes and lower medical costs for people with neurocutaneous syndromes (NCS) in Western China, where healthcare resources are limited. NCS includes four main conditions: neurofibromatosis type 1 (NF1), tuberous sclerosis complex (TSC), Sturge-Weber syndrome (SWS), and von Hippel-Lindau disease (VHL). The main questions it aims to answer are: * Do genetic testing and targeted drugs help people with NCS live longer without disease getting worse? * Do these approaches better control seizures (for TSC and SWS) and shrink tumors (for NF1 and VHL)? * Do they reduce the total cost of medical care? Researchers will compare two groups to see the effects: participants who received precision medicine (genetic testing + targeted drugs + multidisciplinary care) versus those who received standard, uncoordinated care. Participants will: * Undergo genetic testing to identify specific gene changes linked to their NCS * Receive targeted drugs (e.g., mTOR inhibitors for TSC, MEK inhibitors for NF1) if eligible * Attend regular checkups, imaging scans (like MRI), and follow-up visits for an average of 11.4 years * For those in the multidisciplinary care group, receive coordinated care from neurologists, geneticists, surgeons, and other specialists (with remote telemedicine visits for those living far from hospitals)

NCT Number	NCT07327164
Lead Sponsor	West China Hospital Collaborators: First Affiliated Hospital Xi'an Jiaotong University, Xinqiao Hospital, Amry Medical University
Conditions	Neurocutaneous Syndromes, Neurofibromatosis Type 1 (NF1), Tuberous Sclerosis Complex (TSC), Sturge-Weber Syndrome (SWS), Von Hippel-Lindau Disease
Enrollment	1,200 participants
Start Date	2000-01-01
Primary Completion	2020-12-01 (estimated)
Study Completion	2025-04-01 (estimated)
Updated on ClinicalTrials.gov	2026-01-09