Precision Medicine for Neurocutaneous Syndromes in Western China

Precision Medicine in Neurocutaneous Syndromes: Genotype-Guided Risk Stratification and Targeted Therapy Outcomes in a 20-Year Multicenter Cohort From 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)

Study Overview

• Status: Completed
• Conditions: Neurocutaneous Syndromes; Von Hippel-Lindau Disease; Neurofibromatosis Type 1 (NF1); Tuberous Sclerosis Complex (TSC); Sturge-Weber Syndrome (SWS)

• Study Type: Observational
• Enrollment (Actual): 1200

Contacts and Locations

Study Locations

• China
  • Sichuan
    • Chengdu, Sichuan, China
      • West China Hospital of Sichuan University

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

The study included 1200 patients with neurocutaneous syndromes (NF1, TSC, SWS, or VHL) from three tertiary hospitals in Western China, recruited between 2015 and 2023. Participants were aged 0-65 years (median age at diagnosis: 8.2 years), with 69.3% under 18 years old and a slight male predominance (53.6%). All had confirmed diagnoses and at least 12 months of follow-up.

Description

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)

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Multidisciplinary Care Group; patients referred to or enrolled in a structured telemedicine-supported multidisciplinary clinic, which included scheduled virtual visits via WeChat Video or DingTalk with neurologists, genetic counselors, and specialty nurses. Real-time interpretation was available for ethnic minority patients.
Standard In-Person Care (SIC) Group; Patients managed through conventional outpatient visits without structured telemedicine support.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Progression-free survival (PFS)	Proportion of patients from diagnosis to disease progression, malignant transformation, or death	12 months
Seizure control	Engel class I/II refers to the **Engel Epilepsy Surgery Outcome Scale**, a widely used classification system for assessing seizure control after epilepsy surgery. It categorizes patients into four classes based on postoperative seizure frequency: **Engel Class I**: **Seizure-free** or **auras only** (no disabling seizures).; **Engel Class II**: **Rare disabling seizures** (≤3 seizure days per year). Higher Engel class (I > II > III > IV) indicates better seizure control.	12 months
Tumor response	volumetric tumor reduction measured with preoperative tumor volume	12 months
Quality of life: SF-36 Score	SF-36 (Short-Form 36) is a 36-item patient-reported survey that measures generic health-related quality of life across eight domains and two summary components. Each domain is scored 0-100, where 0 = maximum disability and 100 = no disability; therefore, **higher values always indicate better health**. Domain structure and score range; **Physical functioning (PF)** - 0-100; **Role-physical (RP)** - 0-100; **Bodily pain (BP)** - 0-100 (higher = less pain); **General health (GH)** - 0-100; **Vitality (VT)** - 0-100; **Social functioning (SF)** - 0-100; **Role-emotional (RE)** - 0-100; **Mental health (MH)** - 0-100	12 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Overall survival Rate	the overall survivial rate in the whole cohort	12 months
treatment costs	the amount of money(Chinese Yuan, ¥) in volved in the medical costs and transportation costs	12 Months

Collaborators and Investigators

• Sponsor: West China Hospital
• Collaborators: First Affiliated Hospital Xi'an Jiaotong University; Xinqiao Hospital, Amry Medical University

Study record dates

Study Major Dates

• Study Start (Actual): January 1, 2000
• Primary Completion (Actual): December 1, 2020
• Study Completion (Actual): April 1, 2025

Study Registration Dates

• First Submitted: December 24, 2025
• First Submitted That Met QC Criteria: December 25, 2025
• First Posted (Estimated): January 8, 2026

Study Record Updates

• Last Update Posted (Actual): January 9, 2026
• Last Update Submitted That Met QC Criteria: January 7, 2026
• Last Verified: January 1, 2025

More Information

Terms related to this study

• Keywords: cost-effectiveness; Precision Medicine; Targeted Therapy; Western China
• Additional Relevant MeSH Terms: Ciliopathies; Nervous System Diseases; Vascular Diseases; Cardiovascular Diseases; Neoplasms; Neuromuscular Diseases; Genetic Diseases, Inborn; Peripheral Nervous System Diseases; Neoplasms by Histologic Type; Neurodegenerative Diseases; Skin Diseases; Congenital Abnormalities; Neoplasms, Nerve Tissue; Abnormalities, Multiple; Heredodegenerative Disorders, Nervous System; Nerve Sheath Neoplasms; Neoplastic Syndromes, Hereditary; Skin Diseases, Genetic; Neoplasms, Vascular Tissue; Ectodermal Dysplasia; Skin Abnormalities; Hamartoma; Neoplasms, Multiple Primary; Malformations of Cortical Development, Group I; Malformations of Cortical Development; Nervous System Malformations; Neurofibroma; Angiomatosis; Hemangioma; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Neurofibromatoses; Neurofibromatosis 1; Tuberous Sclerosis; Sturge-Weber Syndrome; Neurocutaneous Syndromes; von Hippel-Lindau Disease
• Other Study ID Numbers: WestChinaH-HX-2025-08

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No