NCT07327164Completed
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
Source: ClinicalTrials.gov · Last updated 9 Jan 2026
Brief summary (registry, in English)
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)
- Status (registry)
- Completed
- Study type
- Observational
- Enrollment
- 1200 (actual)
- First submitted
- 24 Dec 2025
- Start date
- Jan 2000
- Primary completion date
- Dec 2020
- Lead sponsor
- West China Hospital
- NCT number
- NCT07327164
What you commit to
- Study type: Observational
- Participants enrolled: 1200
- From Jan 2000 to the primary completion date, Dec 2020
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Age
- 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.
Other
- 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).
- Participation in another interventional trial during the study period (if applicable)
Who the study is looking for
- \* 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)
Age in the registry: - to 65 years · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| West China Hospital of Sichuan University Coordinator of this site? Confirm its status | Chengdu | China | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.