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

Study Purpose

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.

Recruitment Criteria

Accepts Healthy Volunteers

Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms

No
Study Type

An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes.


An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes.


Searching Both is inclusive of interventional and observational studies.

Observational [Patient Registry]
Eligible Ages N/A - 99 Years
Gender All
More Inclusion & Exclusion 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)

Trial Details

Trial ID:

This trial id was obtained from ClinicalTrials.gov, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries.

NCT03210285
Phase

Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans.

Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data.

Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs.

Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use.

Lead Sponsor

The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data.

University Hospital Tuebingen
Principal Investigator

The person who is responsible for the scientific and technical direction of the entire clinical study.

Martin Schuhmann, Prof. Dr.
Principal Investigator Affiliation University hospital Tübingen
Agency Class

Category of organization(s) involved as sponsor (and collaborator) supporting the trial.

Other
Overall Status Not yet recruiting
Countries Germany
Conditions

The disease, disorder, syndrome, illness, or injury that is being studied.

Neurofibromatosis Type 2, Vestibular Schwannoma, Acoustic Neuroma
Additional Details

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

Contact a Trial Team

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International Sites

Tübingen, Germany

Status

Not yet recruiting

Address

University Department of Neurosurgery Tübingen

Tübingen, , 72076

Site Contact

Martin Schuhmann, Prof. Dr.

martin.schuhmann@med.uni-tuebingen.de

+49 7071 29 86448

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