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Completed

NCT Number: NCT07327164

Precision Medicine for Neurocutaneous Syndromes in 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)

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Key information

Conditions

Neurocutaneous Syndromes Abnormalities, Multiple Angiomatosis Cardiovascular Diseases Ciliopathies Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Ectodermal Dysplasia Genetic Diseases, Inborn Hamartoma Hemangioma Heredodegenerative Disorders, Nervous System Malformations of Cortical Development Malformations of Cortical Development, Group I Neoplasms Neoplasms by Histologic Type Neoplasms, Multiple Primary Neoplasms, Nerve Tissue Neoplasms, Vascular Tissue Neoplastic Syndromes, Hereditary Nerve Sheath Neoplasms Nervous System Diseases Nervous System Malformations Neurodegenerative Diseases Neurofibroma Neurofibromatoses Neurofibromatosis 1 Neurofibromatosis Type 1 (NF1) Neuromuscular Diseases Peripheral Nervous System Diseases Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases Sturge-Weber Syndrome Sturge-Weber Syndrome (SWS) Tuberous Sclerosis Tuberous Sclerosis Complex (TSC) Vascular Diseases Von Hippel-Lindau Disease

Age range

Up to 65 year

Sex eligibility

All sexes

Study type

Observational

Primary location

West China Hospital of Sichuan University

Chengdu, Sichuan, China

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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)

Treatment and study plan

Primary outcomes

  1. Progression-free survival (PFS)

    Time frame: 12 months

    Proportion of patients from diagnosis to disease progression, malignant transformation, or death

  2. Seizure control

    Time frame: 12 months

    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.

  3. Tumor response

    Time frame: 12 months

    volumetric tumor reduction measured with preoperative tumor volume

  4. Quality of life: SF-36 Score

    Time frame: 12 months

    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

Secondary outcomes

  1. Overall survival Rate

    Time frame: 12 months

    the overall survivial rate in the whole cohort

  2. treatment costs

    Time frame: 12 Months

    the amount of money(Chinese Yuan, ¥) in volved in the medical costs and transportation costs

Sponsors and collaborators

Lead sponsor

West China Hospital

Other

Collaborators

  • First Affiliated Hospital Xi'an Jiaotong University
  • Xinqiao Hospital, Amry Medical University

Registry information

Official study title

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

Important dates

Study start
2000
Primary completion
2020
Study completion
2025
First posted
Jan 8, 2026
Registry last updated
Jan 9, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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