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Sponsor: West China Hospital
Conditions: Neurocutaneous Syndromes, Neurofibromatosis Type 1 (NF1), Tuberous Sclerosis Complex (TSC), Sturge-Weber Syndrome (SWS), Von Hippel-Lindau Disease
Countries: 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)
Sex: ALL
Age: — to 65 Years
Healthy volunteers: No
Study type: OBSERVATIONAL
Inclusion Criteria: \* Confirmed diagnosis of one of the following neurocutaneous syndromes: Neurofibromatosis Type 1 (NF1) Tuberous Sclerosis Complex (TSC) Sturge-Weber Syndrome (SWS) Von Hippel-Lindau Disease (VHL) (Diagnosis established by established clinical criteria \[e.g., NIH criteria for NF1, International TSC Consensus Criteria\] or confirmed pathogenic genetic variant) * Age between 0 and 65 years at the time of initial evaluation. * Follow-up duration of at least 12 months at one of the participating tertiary medical centers in Western China: West China Hospital, Sichuan University (Chengdu) Xinqiao Hospital, Army Medical University (Chongqing) The First Affiliated Hospital of Xi'an Jiaotong University (Xi'an) \*Availability of complete baseline clinical data, including: Demographic information Diagnostic workup Initial symptom profile Treatment history (if any) Exclusion Criteria: * Incomplete medical records- Key clinical, imaging, or genetic data missing, preventing reliable diagnosis or outcome assessment. * Follow-up duration less than 12 months- Patients lost to follow-up or with insufficient longitudinal data to evaluate clinical outcomes. * Diagnostic uncertainty- Cases that did not meet established clinical or genetic diagnostic criteria for NF1, TSC, SWS, or VHL (e.g., atypical presentations without molecular confirmation). * Age \> 65 years at initial evaluation- Although rare in neurocutaneous syndromes, patients older than 65 were excluded to maintain cohort relevance to typical disease onset and progression patterns. * Participation in another interventional trial during the study period (if applicable)
- Chengdu, Sichuan, China