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20-Year study tests precision medicine for rare Brain-Skin disorders

NCT ID NCT07327164

Knowledge-focused Sponsor: West China Hospital Source: ClinicalTrials.gov ↗

What the study statuses mean

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Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This completed study looked at 1,200 people with neurocutaneous syndromes (NF1, TSC, SWS, VHL) in Western China. Researchers compared those who received genetic testing, targeted drugs, and coordinated specialist care against those who got standard care. The goal was to see if precision medicine could improve survival, control seizures, shrink tumors, and lower costs. Since this is an observational study, it does not test a new treatment but gathers information to guide future care.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

1,200 people

The number who actually took part.

Started

Jan 2000

Finished

Apr 2025

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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.

Ages

Up to 65 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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)

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Conditions

The condition(s) this trial relates to.

neurocutaneous syndrome neurofibromatosis type 1 Sturge-Weber syndrome tuberous sclerosis tuberous sclerosis 1 von Hippel-Lindau disease

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Neurocutaneous syndromes Neurofibromatosis type 1 (NF1) Sturge - weber syndrome (SWS) Tuberous sclerosis complex (TSC) Von Hippel-Lindau disease

Contacts and locations

Locations

  • West China Hospital of Sichuan University

    Chengdu, Sichuan, China

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