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

NCT03210285 | Completed

• 1 other identifier: NF2Tue
• Study Type: observational
• Target: 70
• Locations: 1 country
• Sites: 1

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.

Conditions

Neurofibromatosis Type 2; Vestibular Schwannoma; Acoustic Neuroma

Keywords

Whole exome sequencing; Neurofibromatosis Type 2; Acoustic Neuroma; Vestibular schwannoma

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• Identification of genetic profiles for pre-interventional prediction of expected disease progression

  Within 1 week after measurement

Study Arms (2)

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

Sporadic VS

Patients after surgery of a sporadic vestibularis schwannoma: : Whole exome sequencing of blood and tumor tissue

Diagnostic Test: Whole exome sequencing

Interventions

Whole exome sequencing DIAGNOSTIC_TEST

Whole exome sequencing

NF2-associated VS; Sporadic VS

Eligibility Criteria

• Age: 1 Day - 99 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• Study population: Operated NF2-associated VS
• Control group: Operated sporadic VS
• Age: 0 -99 years

You may not qualify if:

• 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)

Sponsors & Collaborators

• University Hospital Tuebingen: lead
• National Center for Tumor Diseases, Heidelberg: collaborator

Study Sites (1)

University Department of Neurosurgery Tübingen

Tübingen, 72076, Germany

Location

Biospecimen

Retention: SAMPLES WITH DNA

Tumor tissue Blood

MeSH Terms

Conditions

Neurofibromatosis 2; Neuroma, Acoustic

Interventions

Exome

Condition Hierarchy (Ancestors)

Neurilemmoma; Neuroendocrine Tumors; Neuroectodermal Tumors; Neoplasms, Germ Cell and Embryonal; Neoplasms by Histologic Type; Neoplasms; Neurofibromatoses; Neurofibroma; Nerve Sheath Neoplasms; Neoplasms, Nerve Tissue; Neuroma; Neoplastic Syndromes, Hereditary; Vestibulocochlear Nerve Diseases; Retrocochlear Diseases; Ear Diseases; Otorhinolaryngologic Diseases; Otorhinolaryngologic Neoplasms; Cranial Nerve Neoplasms; Cranial Nerve Diseases; Nervous System Diseases; Neurocutaneous Syndromes; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Neoplasms; Neoplasms by Site; Peripheral Nervous System Neoplasms

Intervention Hierarchy (Ancestors)

Genome; Genetic Structures; Genetic Phenomena

Study Officials

• Martin Schuhmann, Prof. Dr.

  University Hospital Tübingen

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: OTHER
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 3, 2017
• First Posted: July 6, 2017
• Study Start: July 31, 2017
• Primary Completion: April 1, 2018
• Study Completion: July 1, 2018
• Last Updated: July 23, 2018

Record last verified: 2017-07

Data Sharing

• IPD Sharing: Will not share

Locations

DE (1)