NCT03210285

WES of NF2-associated in Comparison to Sporadic Vestibular Schwannomas - Correlation With Clinical Data

Whole Exome Sequencing (WES) of NF2-associated in Comparison to Sporadic Vestibular Schwannomas - Correlation With Clinical Data

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 70 (actual)
• Sponsor: University Hospital Tuebingen · Academic / Other
• Sex: All
• Age: 1 Day – 99 Years
• Healthy volunteers: Not accepted

Summary

Whole exome sequencing (WES) of 50 sporadic and 50 Neurofibromatosis Type2 (NF2)-associated vestibularis schwannomas (VS) in children and young adults. The aim is to gain insight into the complete genome of the NF2 associated VS compared to sporadic VS (control group). These data are to be correlated with the clinic, ie the auditory function (audiogram, acoustically evoked potentials) and the clinical picture as well as the tumor growth rate and general data such as sex, age, side, etc.

Detailed description

Whole exome sequencing (WES) of 50 sporadic and 50 Neurofibromatosis Type2 (NF2)-associated vestibularis schwannomas (VS) in children and young adults. The aim is to gain insight into the complete genome of the NF2 associated VS compared to sporadic VS (control group). These data are to be correlated with the clinic, ie the auditory function (audiogram, acoustically evoked potentials) and the clinical picture as well as the tumor growth rate and general data such as sex, age, side, etc. The analysis of genetic changes should provide a better insight into the oncogenesis of these tumors. The distinct genetic characteristics between NF2-associated and sporadic VS suggest a different oncogenesis of these tumors. The correlation of the genetic characteristics with the partly very different clinical appearance and a very different dynamics of the disease, in particular the tumor volume in the course, identifies the underlying modifiers of the disease course. Based on these genetic modifiers, patients can be stratified and individual clinical therapy decisions can be made. By demonstrating these genetic profiles in the peripheral blood, prospective conclusions can be drawn about expected disease progression before intervention as well as for therapy monitoring

Conditions

• Neurofibromatosis Type 2
• Vestibular Schwannoma
• Acoustic Neuroma

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Whole exome sequencing	Whole exome sequencing

Timeline

• Start date: 2017-07-31
• Primary completion: 2018-04-01
• Completion: 2018-07-01
• First posted: 2017-07-06
• Last updated: 2018-07-23

Locations

1 site across 1 country: Germany