Neurocutaneous SyndromesNCT07327164
Precision Medicine for Neurocutaneous Syndromes in Western China
An observational study of Neurocutaneous Syndromes and Neurofibromatosis Type 1 (NF1), run by West China Hospital at 1 site in China.
Trial 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… Read more about this study
- Who is it for?
- Ages Up to 65 years
- Conditions the study is for
- Neurocutaneous Syndromes, Neurofibromatosis Type 1 (NF1), Tuberous Sclerosis Complex (TSC)
- How many people
- 1,200 participants
- Where
- 1 siteChina
- Study dates
- 1 Jan 2000to 1 Apr 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 65 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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)
Who cannot join
- 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)
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Precision Medicine in Neurocutaneous Syndromes: Genotype-Guided Risk Stratification and Targeted Therapy Outcomes in a 20-Year Multicenter Cohort From 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?
Read more
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
- Medical subject headings
- Neurocutaneous Syndromes, Neurofibromatosis 1, Tuberous Sclerosis, Sturge-Weber Syndrome, von Hippel-Lindau Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Progression-free survival (PFS)
Proportion of patients from diagnosis to disease progression, malignant transformation, or death
Measured: 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:
- 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.
Measured: 12 months
Tumor response
volumetric tumor reduction measured with preoperative tumor volume
Measured: 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
- 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
Measured: 12 months
Secondary outcomes (2)
Overall survival Rate
the overall survivial rate in the whole cohort
Measured: 12 months
treatment costs
the amount of money(Chinese Yuan, ¥) in volved in the medical costs and transportation costs
Measured: 12 Months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Jan 2026
- Study start1 Jan 2000
- Primary completion1 Dec 2020
- Study completion1 Apr 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neurocutaneous SyndromesStudies of the same condition, open and under way.
- More trials run by West China HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Retrospective
- Enrolment
- 1,200 participants (actual)
Sponsor and investigators
- Lead sponsor
- West China Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- First Affiliated Hospital Xi'an Jiaotong University, Second Affiliated Hospital of Army Medical University
- Responsible party
- Principal investigator, Zhigang Lan, West China Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07327164
- Sponsor's protocol ID
- WestChinaH-HX-2025-08
- Status last verified
- Jan 2025
- First submitted
- 24 Dec 2025
- Last updated
- 9 Jan 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 9 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Precision Medicine in Neurocutaneous Syndromes: Genotype-Guided Risk Stratification and Targeted Therapy Outcomes in a 20-Year Multicenter Cohort From Western China
- ClinicalTrials.gov ID
- NCT07327164
- Acronym / sponsor ID
- WestChinaH-HX-2025-08
- 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
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 1,200 participants (actual)
- Lead sponsor
- West China HospitalUniversity, hospital or other
- Collaborators
- First Affiliated Hospital Xi'an Jiaotong University, Second Affiliated Hospital of Army Medical University
- Study start
- 1 Jan 2000 (actual)
- Primary completion
- 1 Dec 2020 (actual)
- Study completion
- 1 Apr 2025 (actual)
- First posted
- 8 Jan 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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)
Study design
- Observational model
- Case only
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- Up to 65 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (5 listed)
- 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)
Key exclusion criteria (5 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Progression-free survival (PFS)
Time frame: 12 months
Proportion of patients from diagnosis to disease progression, malignant transformation, or death
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: 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.
Tumor response
Time frame: 12 months
volumetric tumor reduction measured with preoperative tumor volume
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 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
2 secondary outcomes
Overall survival Rate
Time frame: 12 months
treatment costs
Time frame: 12 Months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Jan 2026.
- Individual participant dataSharing planned: Yes
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neurocutaneous Syndromes and Neurofibromatosis Type 1 (NF1), run by West China Hospital at 1 site in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 9 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Progression-free survival (PFS) (time frame: 12 months). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 9 Jan 2026.