An observational study in Neurocutaneous Syndromes, Neurofibromatosis Type 1 (NF1) and Tuberous Sclerosis Complex (TSC), sponsored by West China Hospital. Completed at 1 site in China. Open to participants aged Up to 65 Years. Per ClinicalTrials.gov, last updated 2026-01-09.
Sponsored by West China Hospital · Observational
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:
176 studies on the registry are indexed under Neurofibromatosis 1; 43 are open to participants now.
This study's enrollment of 1,200 is above the median of 188 across 58 observational studies indexed under Neurofibromatosis 1.
Browse Neurofibromatosis 1 studies →West China Hospital is the lead sponsor of 501 studies on the registry; 246 are open to participants now.
Counted across the registry records on this site, refreshed daily.
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.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
* 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:
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.
Patients managed through conventional outpatient visits without structured telemedicine support.
Progression-free survival (PFS)
Proportion of patients from diagnosis to disease progression, malignant transformation, or death
Time frame: 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.
Time frame: 12 months
Tumor response
volumetric tumor reduction measured with preoperative tumor volume
Time frame: 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
Time frame: 12 months
Overall survival Rate
the overall survivial rate in the whole cohort
Time frame: 12 months
treatment costs
the amount of money(Chinese Yuan, ¥) in volved in the medical costs and transportation costs
Time frame: 12 Months
Plan to share: Yes
Supporting information: Study protocol
No publications or documents are linked to this record.
Ran from Jan 2000 to primary completion in Dec 2020, 251 months.
How these figures are worked out, and which studies are left out of them.
This study is completed, as verified in Jan 2025. You cannot join it, but the record below documents what was studied.
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