Precision Medicine for Neurocutaneous Syndromes in Western China

Sichuan University

Status: Completed

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

Study type: Observational

Funder types: Other

Identifiers

NCT07327164

WestChinaH-HX-2025-08

Details and patient eligibility

About

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)

Enrollment: 1,200 patients

Sex: All

Ages: Under 65 years old

Volunteers: No Healthy Volunteers

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)

Trial design

1,200 participants in 2 patient groups

Multidisciplinary Care Group

Description:

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

Description:

Patients managed through conventional outpatient visits without structured telemedicine support.