Precision Medicine for Neurocutaneous Syndromes in Western China

NCT07327164 | Completed DMC

• 1 other identifier: WestChinaH-HX-2025-08
• Study Type: observational
• Target: 1,200
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

Precision Medicine; Targeted Therapy; Western China; cost-effectiveness

Outcome Measures

Primary Outcomes (4)

• 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: 1. \*\*Engel Class I\*\*: \*\*Seizure-free\*\* or \*\*auras only\*\* (no disabling seizures). 2. \*\*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 1. \*\*Physical functioning (PF)\*\* - 0-100 2. \*\*Role-physical (RP)\*\* - 0-100 3. \*\*Bodily pain (BP)\*\* - 0-100 (higher = less pain) 4. \*\*General health (GH)\*\* - 0-100 5. \*\*Vitality (VT)\*\* - 0-100 6. \*\*Social functioning (SF)\*\* - 0-100 7. \*\*Role-emotional (RE)\*\* - 0-100 8. \*\*Mental health (MH)\*\* - 0-100

  12 months

Secondary Outcomes (2)

• Overall survival Rate

  12 months

• treatment costs

  12 Months

Study Arms (2)

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.

Eligibility Criteria

• Age: Up to 65 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• \* 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)

You may not qualify if:

• 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)

Sponsors & Collaborators

• First Affiliated Hospital Xi'an Jiaotong University: collaborator
• West China Hospital: lead
• Xinqiao Hospital, Amry Medical University: collaborator

Study Sites (1)

West China Hospital of Sichuan University

Chengdu, Sichuan, China

Location

MeSH Terms

Conditions

Neurocutaneous Syndromes; Neurofibromatosis 1; Tuberous Sclerosis; Sturge-Weber Syndrome; von Hippel-Lindau Disease

Condition Hierarchy (Ancestors)

Nervous System Diseases; Ectodermal Dysplasia; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Abnormalities; Skin Diseases, Genetic; Genetic Diseases, Inborn; Skin Diseases; Skin and Connective Tissue Diseases; Neurofibromatoses; Neurofibroma; Nerve Sheath Neoplasms; Neoplasms, Nerve Tissue; Neoplasms by Histologic Type; Neoplasms; Neoplastic Syndromes, Hereditary; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Peripheral Nervous System Diseases; Neuromuscular Diseases; Hamartoma; Neoplasms, Multiple Primary; Malformations of Cortical Development, Group I; Malformations of Cortical Development; Nervous System Malformations; Hemangioma; Neoplasms, Vascular Tissue; Angiomatosis; Vascular Diseases; Cardiovascular Diseases; Ciliopathies

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: December 24, 2025
• First Posted: January 8, 2026
• Study Start: January 1, 2000
• Primary Completion: December 1, 2020
• Study Completion: April 1, 2025
• Last Updated: January 9, 2026

Record last verified: 2025-01

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL

Locations

CN (1)