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

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

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.

Study Overview

• Status: Completed
• Conditions: Neurofibromatosis Type 2; Vestibular Schwannoma; Acoustic Neuroma
• Intervention / Treatment: Diagnostic test: Whole exome sequencing

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

• Study Type: Observational
• Enrollment (Actual): 70

Contacts and Locations

Study Locations

• Germany
  • Tübingen, Germany, 72076
    • University Department of Neurosurgery Tübingen

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 year to 97 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

• Study population: Operated NF2-associated VS
• Control group: Operated sporadic VS

Description

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)

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Control
• Time Perspectives: Other

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
NF2-associated VS; Patients after surgery of a NF2- associated vestibularis schwannoma: Whole exome sequencing of blood and tumor tissue	Diagnostic test: Whole exome sequencing; Whole exome sequencing
Sporadic VS; Patients after surgery of a sporadic vestibularis schwannoma: : Whole exome sequencing of blood and tumor tissue	Diagnostic test: Whole exome sequencing; Whole exome sequencing

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Correlation clinical-volumetric pathologies and distinct genetic features	Correlation between interindividually different clinical-volumetric pathologies and distinct genetic features	Within 1 week after measurement

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Identification of genetic profiles for pre-interventional prediction of expected disease progression	Identification of genetic profiles in the peripheral blood for pre-interventional prediction of expected disease progression as well as therapy monitoring	Within 1 week after measurement

Collaborators and Investigators

• Sponsor: University Hospital Tuebingen
• Collaborators: National Center for Tumor Diseases, Heidelberg
• Investigators: Study Director: Martin Schuhmann, Prof. Dr., University Hospital Tübingen

Study record dates

Study Major Dates

• Study Start (Actual): July 31, 2017
• Primary Completion (Actual): April 1, 2018
• Study Completion (Actual): July 1, 2018

Study Registration Dates

• First Submitted: July 3, 2017
• First Submitted That Met QC Criteria: July 4, 2017
• First Posted (Actual): July 6, 2017

Study Record Updates

• Last Update Posted (Actual): July 23, 2018
• Last Update Submitted That Met QC Criteria: July 19, 2018
• Last Verified: July 1, 2017

More Information

Terms related to this study

• Keywords: Vestibular schwannoma; Acoustic Neuroma; Whole exome sequencing; Neurofibromatosis Type 2
• Additional Relevant MeSH Terms: Nervous System Diseases; Neoplasms by Histologic Type; Neoplasms; Neoplasms by Site; Genetic Diseases, Inborn; Neuromuscular Diseases; Otorhinolaryngologic Neoplasms; Otorhinolaryngologic Diseases; Neurodegenerative Diseases; Neuroectodermal Tumors; Neoplasms, Germ Cell and Embryonal; Neoplasms, Nerve Tissue; Peripheral Nervous System Diseases; Ear Diseases; Nervous System Neoplasms; Heredodegenerative Disorders, Nervous System; Neoplastic Syndromes, Hereditary; Cranial Nerve Diseases; Neuroendocrine Tumors; Nerve Sheath Neoplasms; Neurocutaneous Syndromes; Peripheral Nervous System Neoplasms; Cranial Nerve Neoplasms; Vestibulocochlear Nerve Diseases; Retrocochlear Diseases; Neurofibromatoses; Neurofibromatosis 1; Neurofibroma; Neuroma; Neurofibromatosis 2; Neurilemmoma; Neuroma, Acoustic
• Other Study ID Numbers: NF2Tue

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No