Precision Medicine for Neurocutaneous Syndromes in Western China

Plain-language summary

This study looks at precision-medicine approaches for neurocutaneous syndromes - Neurofibromatosis Type 1 (NF1), Tuberous Sclerosis Complex (TSC), Sturge-Weber Syndrome, and Von Hippel-Lindau Disease - at centers in Western China. It included people aged 0 to 65 with a confirmed diagnosis of one of these syndromes and at least 12 months of follow-up. It is an observational study with no assigned phase and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Completed

Sponsor

West China Hospital

Start date

1/1/2000

Estimated completion

4/1/2025

Countries

China

Related genes

Locations

• Chengdu, China

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

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)