NCT07327164Befejeződött
Precision Medicine for Neurocutaneous Syndromes in Western China
Precision Medicine in Neurocutaneous Syndromes: Genotype-Guided Risk Stratification and Targeted Therapy Outcomes in a 20-Year Multicenter Cohort From Western China
Forrás: ClinicalTrials.gov · Utoljára frissítve: 2026. jan. 9.
Rövid összefoglaló (regiszter, angolul)
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)
- Állapot (regiszter)
- Befejeződött
- Vizsgálattípus
- Megfigyeléses
- Résztvevők száma
- 1200 (tényleges)
- Első benyújtás
- 2025. dec. 24.
- Kezdés
- 2000. jan. 1.
- Elsődleges befejezés
- 2020. dec. 1.
- Fő szponzor
- West China Hospital
- NCT-szám
- NCT07327164
Mit vállalsz
- Vizsgálat típusa: Megfigyeléses
- Bevont résztvevők: 1200
- 2000. jan. 1. és az elsődleges befejezés (2020. dec. 1.) között
- 1 helyszín, 1 országban
- Vizitek és vizsgálatok: kérdezd a vizsgálat csapatát, a regiszter nem sorolja fel őket
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Életkor
- 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.
Egyéb
- 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).
- Participation in another interventional trial during the study period (if applicable)
Kiket keres a vizsgálat
- 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)
Életkor a regiszterben: - – 65 év · Nem: nők és férfiak · Egészséges önkénteseket nem fogad
Helyszínek (1)
Helyszínek a regiszter sorrendjében. Ha a profilodba mented a városodat, távolság szerint rendeződnek.
| Helyszín | Város | Ország | Helyszín állapota |
|---|---|---|---|
| West China Hospital of Sichuan University | Chengdu | Kína | Ismeretlen állapot |
Ez az oldal tájékoztatás, nem orvosi tanács. Bármely vizsgálatról az orvosoddal beszélj.