Neurofibromatosis Type 2NF2NCT03210285
WES of NF2-associated in Comparison to Sporadic Vestibular Schwannomas - Correlation With Clinical Data
An observational study of Neurofibromatosis Type 2 and Vestibular Schwannoma, run by University Hospital Tuebingen at 1 site in Germany.
Trial 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). Read more about this study
- Who is it for?
- Ages 1 day to 99 years
- Conditions the study is for
- Neurofibromatosis Type 2, Vestibular Schwannoma, Acoustic Neuroma
- What is being tested?
- Whole exome sequencing
- How many people
- 70 participants
- Where
- 1 siteGermany
- Study dates
- 31 Jul 2017to 1 Jul 2018
- How long will I take part?
- 5 Years
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 day to 99 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: * Study population: Operated NF2-associated VS * Control group: Operated sporadic VS
Who may be able to join
- 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
Who cannot join
- 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 locations and contacts
1 site in 1 country.
About this study
Official title: 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.
Read the 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
- Being tested
- Whole exome sequencing
- Keywords
- Whole exome sequencing, Neurofibromatosis Type 2, Acoustic Neuroma, Vestibular schwannoma
- Medical subject headings
- Neurofibromatosis 2, Neuroma, Acoustic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Whole exome sequencingDiagnostic test
Whole exome sequencing
| Study group | Role | What they receive |
|---|---|---|
| NF2-associated VS | Patients after surgery of a NF2- associated vestibularis schwannoma: Whole exome sequencing of blood and tumor tissue Receives: Diagnostic Test: Whole exome sequencing | |
| Sporadic VS | Patients after surgery of a sporadic vestibularis schwannoma: : Whole exome sequencing of blood and tumor tissue Receives: Diagnostic Test: Whole exome sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Correlation clinical-volumetric pathologies and distinct genetic features
Correlation between interindividually different clinical-volumetric pathologies and distinct genetic features
Measured: Within 1 week after measurement
Secondary outcomes (1)
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
Measured: Within 1 week after measurement
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Jul 2017
- Study start31 Jul 2017
- Primary completion1 Apr 2018
- Study completion1 Jul 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neurofibromatosis Type 2Studies of the same condition, open and under way.
- More trials run by University Hospital TuebingenThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Other
- Enrolment
- 70 participants (actual)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- University Hospital Tuebingen
- Sponsor type
- University, hospital or other
- Collaborators
- National Center for Tumor Diseases, Heidelberg
- Responsible party
- Sponsor
- Investigators
- Martin Schuhmann, Prof. Dr., Study director, University Hospital Tuebingen
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03210285
- Sponsor's protocol ID
- NF2Tue
- Acronym
- NF2
- Status last verified
- Jul 2017
- First submitted
- 3 Jul 2017
- Last updated
- 23 Jul 2018
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 23 Jul 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Whole Exome Sequencing (WES) of NF2-associated in Comparison to Sporadic Vestibular Schwannomas - Correlation With Clinical Data
- ClinicalTrials.gov ID
- NCT03210285
- Acronym / sponsor ID
- NF2 / NF2Tue
- Keywords
- Whole exome sequencing, Neurofibromatosis Type 2, Acoustic Neuroma, Vestibular schwannoma
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 70 participants (actual)
- Lead sponsor
- University Hospital TuebingenUniversity, hospital or other
- Collaborators
- National Center for Tumor Diseases, Heidelberg
- Study start
- 31 Jul 2017 (actual)
- Primary completion
- 1 Apr 2018 (actual)
- Study completion
- 1 Jul 2018 (actual)
- First posted
- 6 Jul 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Study design
- Observational model
- Case-control
- Time perspective
- Other
- Target follow-up
- 5 Years
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| NF2-associated VS | – | Diagnostic Test: Whole exome sequencingPatients after surgery of a NF2- associated vestibularis schwannoma: Whole exome sequencing of blood and tumor tissue |
| Sporadic VS | – | Diagnostic Test: Whole exome sequencingPatients after surgery of a sporadic vestibularis schwannoma: : Whole exome sequencing of blood and tumor tissue |
Who may qualify
- Ages
- 1 day to 99 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- * Study population: Operated NF2-associated VS * Control group: Operated sporadic VS
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (2 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Whole exome sequencingWhole exome sequencing | Diagnostic test | NF2-associated VS, Sporadic VS |
Primary outcome
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
1 secondary outcome
Identification of genetic profiles for pre-interventional prediction of expected disease progression
Time frame: Within 1 week after measurement
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Jul 2018.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Martin Schuhmann, Prof. Dr. study director
University Hospital Tuebingen
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neurofibromatosis Type 2 and Vestibular Schwannoma, run by University Hospital Tuebingen at 1 site in Germany.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 23 Jul 2018. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Germany. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Correlation clinical-volumetric pathologies and distinct genetic features (time frame: Within 1 week after measurement). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 23 Jul 2018.