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| Name | Class |
|---|---|
| First Affiliated Hospital Xi'an Jiaotong University | OTHER |
| Xinqiao Hospital, Amry Medical University | UNKNOWN |
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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:
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:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
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| Measure | Description | Time Frame |
|---|---|---|
| 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:
| 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
| 12 months |
| Measure | Description | Time Frame |
|---|---|---|
| Overall survival Rate | the overall survivial rate in the whole cohort | 12 months |
| treatment costs | the amount of money(Chinese Yuan, ¥) in volved in the medical costs and transportation costs |
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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)
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:
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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.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| West China Hospital of Sichuan University | Chengdu | Sichuan | China |
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| ID | Term |
|---|---|
| D020752 | Neurocutaneous Syndromes |
| D009456 | Neurofibromatosis 1 |
| D014402 | Tuberous Sclerosis |
| D013341 | Sturge-Weber Syndrome |
| D006623 | von Hippel-Lindau Disease |
| ID | Term |
|---|---|
| D009422 | Nervous System Diseases |
| D004476 | Ectodermal Dysplasia |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
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| 12 Months |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D012868 | Skin Abnormalities |
| D012873 | Skin Diseases, Genetic |
| D030342 | Genetic Diseases, Inborn |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D017253 | Neurofibromatoses |
| D009455 | Neurofibroma |
| D018317 | Nerve Sheath Neoplasms |
| D009380 | Neoplasms, Nerve Tissue |
| D009370 | Neoplasms by Histologic Type |
| D009369 | Neoplasms |
| D009386 | Neoplastic Syndromes, Hereditary |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D010523 | Peripheral Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D006222 | Hamartoma |
| D009378 | Neoplasms, Multiple Primary |
| D065703 | Malformations of Cortical Development, Group I |
| D054220 | Malformations of Cortical Development |
| D009421 | Nervous System Malformations |
| D006391 | Hemangioma |
| D009383 | Neoplasms, Vascular Tissue |
| D000798 | Angiomatosis |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D000072661 | Ciliopathies |