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NCT Number: NCT03210285

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.

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Key information

Conditions

Neurofibromatosis Type 2 Acoustic Neuroma Congenital, Hereditary, and Neonatal Diseases and Abnormalities Cranial Nerve Diseases Cranial Nerve Neoplasms Ear Diseases Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Neoplasms Neoplasms by Histologic Type Neoplasms by Site Neoplasms, Germ Cell and Embryonal Neoplasms, Nerve Tissue Neoplastic Syndromes, Hereditary Nerve Sheath Neoplasms Nervous System Diseases Nervous System Neoplasms Neurilemmoma Neurocutaneous Syndromes Neurodegenerative Diseases Neuroectodermal Tumors Neuroendocrine Tumors Neurofibroma Neurofibromatoses Neurofibromatosis 2 Neuroma Neuroma, Acoustic Otorhinolaryngologic Diseases Otorhinolaryngologic Neoplasms Peripheral Nervous System Neoplasms Retrocochlear Diseases Vestibular Schwannoma Vestibulocochlear Nerve Diseases

Age range

1 day–99 year

Sex eligibility

All sexes

Study type

Observational

Primary location

University Department of Neurosurgery Tübingen

Tübingen, 72076, Germany

About this study

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

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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)

Treatment and study plan

Whole Exome Sequencing

Diagnostic Test

Whole exome sequencing

Primary outcomes

  1. Correlation clinical-volumetric pathologies and distinct genetic features

    Time frame: Within 1 week after measurement

    Correlation between interindividually different clinical-volumetric pathologies and distinct genetic features

Secondary outcomes

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

    Time frame: Within 1 week after measurement

    Identification of genetic profiles in the peripheral blood for pre-interventional prediction of expected disease progression as well as therapy monitoring

Sponsors and collaborators

Lead sponsor

University Hospital Tuebingen

Other

Collaborators

  • National Center for Tumor Diseases, Heidelberg

Registry information

Official study title

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

Acronym: NF2

Important dates

Study start
2017
Primary completion
2018
Study completion
2018
First posted
Jul 6, 2017
Registry last updated
Jul 23, 2018

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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