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Precision Medicine for Neurocutaneous Syndromes in Western China

NCT07327164 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 1200

Last updated 2026-01-09

No results posted yet for this study

Summary

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)

Conditions

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

Sponsors & Collaborators

  • First Affiliated Hospital Xi'an Jiaotong University

    collaborator OTHER

  • Xinqiao Hospital, Amry Medical University

    collaborator UNKNOWN

  • West China Hospital

    lead OTHER

Eligibility

Max Age
65 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2000-01-01
Primary Completion
2020-12-01
Completion
2025-04-01

Countries

  • China

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07327164 on ClinicalTrials.gov