Clinical trial NCT03210285: WES of NF2-associated in Comparison to Sporadic Vestibular Schwannomas - Correlation With Clinical Data
Official title: Whole Exome Sequencing (WES) of NF2-associated in Comparison to Sporadic Vestibular Schwannomas - Correlation With Clinical Data
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Neurofibromatosis Type 2
Vestibular Schwannoma
Acoustic Neuroma
Keywords: Whole exome sequencing
Neurofibromatosis Type 2
Acoustic Neuroma
Vestibular schwannoma
Lead sponsor: University Hospital Tuebingen
Sponsor class: OTHER
Collaborators: name: National Center for Tumor Diseases, Heidelberg
First posted: 2017-07-06
Enrollment: 70
Sex: ALL
Minimum age (years): 1
Maximum age (years): 99
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_CONTROL
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: * Study population: Operated NF2-associated VS
* Control group: Operated sporadic VS

Brief 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

Eligibility criteria: Inclusion Criteria:

* Study population: Operated NF2-associated VS
* Control group: Operated sporadic VS
* Consent to participation in the study by the patient / legal guardian in prospective inclusion or consent to the use of stored specimens in retrospective inclusion
* Age: 0 -99 years

Exclusion Criteria:

* Lack of informed consent
* Patient's request (withdrawal of the consent statement for the evaluation of the data and further storage of the blood / tissue samples)

Primary outcomes:
measure: Correlation clinical-volumetric pathologies and distinct genetic features
timeFrame: Within 1 week after measurement
Secondary outcomes:
measure: Identification of genetic profiles for pre-interventional prediction of expected disease progression
timeFrame: Within 1 week after measurement
Other outcomes:
Locations:
city: Tübingen
country: Germany
facility: University Department of Neurosurgery Tübingen
Study officials:
affiliation: University Hospital Tübingen
name: Martin Schuhmann, Prof. Dr.
role: STUDY_DIRECTOR
References: