Von Hippel-Lindau Disease Clinical Trial
Official title:
An International Collaborative Study: Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) Patients
The purpose of the study is to investigate how best to screen for Endolymphatic sac tumors
(ELSTs) in von Hippel-Lindau (vHL) patients in order to diagnose the ELSTs while they are
still small so that hearing loss can be prevented.
Up to 16% of vHL patients are known to develop endolymphatic sac tumors in the inner ear
that can cause permanent hearing loss. However, the ELSTs are often not found before hearing
loss has already occurred. The challenge for doctors is to diagnose the ELSTs at early
stages before they cause often irreversible deafness. In order to find ELSTs before they
cause hearing loss, it is important to screen for the tumors prophylactically, that is
screen all vHL patients regardless of whether or not they have symptoms.
Who can join? Persons diagnosed with vHL who are at least 15 years old. The investigators
include patients WITH OR WITHOUT a diagnosed ELST.
What does it involve? You need to have a hearing test and an MRI of the brain, where the
inner ear can be seen, most vHL patients have already had this done as part of their
surveillance program.
Participants will be asked to participate in follow up examinations (hearing test and/or MRI
of the brain) after 2, 5, and 10 years.
How can I join? A doctor has to be responsible for the study in each country where vHL
patients participates.
Ask the doctor who manages your vHL examinations to contact us or contact us yourself and
the investigators will help you find a doctor in your country who will participate in the
study.
Status | Recruiting |
Enrollment | 380 |
Est. completion date | December 2026 |
Est. primary completion date | December 2017 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 15 Years and older |
Eligibility |
Inclusion Criteria: - A diagnosis of vHL (either a carrier of a VHL mutation or vHL diagnosed by clinical criteria, i.e. at least two vHL-related manifestations diagnosed or one vHL-related manifestation diagnosed AND a first-degree relative with vHL) - At least one audiological examination (including an audiogramme) and one MRI examination of the brain also visualizing the inner ear within 12 months of each other Exclusion Criteria: - Children under the age of 15 years |
Country | Name | City | State |
---|---|---|---|
Denmark | Department of Cellular and Molecular Medicine, University of Copenhagen | Copenhagen | Copenhagen N |
Lead Sponsor | Collaborator |
---|---|
Marie Luise Bisgaard, MD | Amrita Institute of Medical Sciences & Research Center, Fundación Hospital de Madrid, National Cancer Centre, Singapore, Rigshospitalet, Denmark, St Thomas' Hospital, London, Yokosuka City Shimin Hospital |
Denmark,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Other | VHL mutation status related to presence of hearing loss and/or presence of ELST at any time during the study. | Presence of a VHL mutation confirmed by molecular analysis correlated to hearing loss as determined during audiometry and/or to presence of an ELST as diagnosed by MRI during the study. | Assessed at the end of the study ten year after study initiation. | |
Other | Type of VHL mutation related to presence of hearing loss and/or presence of ELST at any time during the study. | Type of a VHL mutation confirmed by molecular analysis (mutations predicted to truncate the protein product or not) correlated to hearing loss as determined during audiometry and/or to presence of an ELST as diagnosed by MRI during the study. | Assessed at the end of the study ten year after study initiation | |
Other | Type of clinical vHL type related to presence of hearing loss and/or presence of ELST at any time during the study. | Type of clinical vHL type as defined by previously diagnosis of other types of vHL-related manifestations in the patient (cerebellar hemangioblastomas, retinal hemangioblastoma, renal cell carcinoma, renal cysts, pancreatic tumors, pancreatic cysts, pheochromocytomas, paragangliomas, Epidydydimal cysts/ cysts of the broad uterine ligament) correlated to hearing loss as determined during audiometry and/or to presence of an ELST as diagnosed by MRI during the study. | Assessed at the end of the study ten year after study initiation | |
Primary | In each ear: development of an ELST during the study period correlated to baseline hearing level. | Presence and size of an ELST as diagnosed by an MRI at any time during the study period correlated to the baseline hearing level in the ear as defined by hearing level in decibel in air- and bone conduction at predefined frequencies 125, 250, 500, 1000, 2000, 4000, 8000 Hz measured with pure-tone audiometry. | Change in status of ELST diagnosis from during the ten year period from study baseline to study end. | |
Secondary | In each ear: development of an ELST during the study period correlated to hearing level at two year follow-up. | Presence and size of an ELST as diagnosed by an MRI at any time during the study period correlated to the hearing level at the two year follow-up in the ear as defined by hearing level in decibel in air- and bone conduction at predefined frequencies 125, 250, 500, 1000, 2000, 4000, 8000 Hz measured with pure-tone audiometry. | Change in status of ELST diagnosis from during the 8 year period from two year follow-up to study end. | |
Secondary | In each ear: development of an ELST during the study period correlated to hearing level at five year follow-up. | Presence and size of an ELST as diagnosed by an MRI at any time during the study period correlated to the hearing level at the five year follow-up in the ear as defined by hearing level in decibel in air- and bone conduction at predefined frequencies 125, 250, 500, 1000, 2000, 4000, 8000 Hz measured with pure-tone audiometry. | Change in status of ELST diagnosis from during the 5 year period from five year follow-up to study end. | |
Secondary | In each ear: development of an ELST during the study period correlated to presence of low-frequency hearing loss (sensorineural) pattern A at baseline assessment. | Presence and size of an ELST as diagnosed by an MRI at any time during the study period correlated to presence of low-frequency hearing loss (sensorineural) type A as defined by (Th500 Hz - Th1.000 Hz > 5 dB) AND (Th250 Hz > Th1.000 Hz) measured during a pure-tone audiometry at baseline assessment. | Change in status of ELST diagnosis during the 10 year period from study initiation to study end. | |
Secondary | In each ear: development of an ELST during the study period correlated to presence of low-frequency hearing loss (sensorineural) pattern A at the two-year follow-up assessment.. | Presence and size of an ELST as diagnosed by an MRI at any time during the study period correlated to presence of low-frequency hearing loss (sensorineural) type A as defined by (Th500 Hz - Th1.000 Hz > 5 dB) AND (Th250 Hz > Th1.000 Hz) measured during a pure-tone audiometry at two-year follow-up assessment. | Change in status of ELST diagnosis during the 8 year period from study initiation to the two-year follow-up assessment. | |
Secondary | In each ear: development of an ELST during the study period correlated to presence of low-frequency hearing loss (sensorineural) pattern A at the five-year follow-up assessment. | Presence and size of an ELST as diagnosed by an MRI at any time during the study period correlated to presence of low-frequency hearing loss (sensorineural) type A as defined by (Th500 Hz - Th1.000 Hz > 5 dB) AND (Th250 Hz > Th1.000 Hz) measured during a pure-tone audiometry at five-year follow-up assessment. | Change in status of ELST diagnosis during the 5 year period from study initiation to the five-year follow-up assessment. | |
Secondary | In each ear: development of an ELST during the study period correlated to presence of low-frequency hearing loss (sensorineural) pattern B at baseline assessment. | Presence and size of an ELST as diagnosed by an MRI at any time during the study period correlated to presence of low-frequency hearing loss (sensorineural) type B as defined by (Th1.000 Hz > Th2.000 Hz) and (Th500 - Th2.000 Hz > 9 dB) and (Th250 Hz -2.000 H< > 9 dB) measured during a pure-tone audiometry at baseline assessment. | Change in status of ELST diagnosis during the 10 year period from study initiation to study end. | |
Secondary | In each ear: development of an ELST during the study period correlated to presence of low-frequency hearing loss (sensorineural) pattern B at the two-year follow-up assessment. | Presence and size of an ELST as diagnosed by an MRI at any time during the study period correlated to presence of low-frequency hearing loss (sensorineural) type B as defined by (Th1.000 Hz > Th2.000 Hz) and (Th500 - Th2.000 Hz > 9 dB) and (Th250 Hz -2.000 H< > 9 dB) measured during a pure-tone audiometry at the two-year follow-up assessment. | Change in status of ELST diagnosis during the 8 year period from study initiation to the two-year follow-up assessment. | |
Secondary | In each ear: development of an ELST during the study period correlated to presence of low-frequency hearing loss (sensorineural) pattern B at the five-year follow-up assessment. | Presence and size of an ELST as diagnosed by an MRI at any time during the study period correlated to presence of low-frequency hearing loss (sensorineural) type B as defined by (Th1.000 Hz > Th2.000 Hz) and (Th500 - Th2.000 Hz > 9 dB) and (Th250 Hz -2.000 H< > 9 dB) measured during a pure-tone audiometry at the five-year follow-up assessment. | Change in status of ELST diagnosis during the 5 year period from study initiation to the five-year follow-up assessment. | |
Secondary | Development of an ELST during the study period correlated to presence of subjective audio-vestibular symptoms at the baseline assessment. | Presence and size of an ELST as diagnosed by an MRI at any time during the study period correlated to presence of audio-vestibular symptoms in the form of hearing loss, tinnitus, vertigo, sense of aural fullness, and ear pain that are not known to have an non-ELST cause as reported by the patient at the baseline assessment. | Change in status of ELST diagnosis during the 10 year period from study initiation to the study end. | |
Secondary | Development of an ELST during the study period correlated to presence of subjective audio-vestibular symptoms at the two-year follow-up assessment. | Presence and size of an ELST as diagnosed by an MRI at any time during the study period correlated to presence of audio-vestibular symptoms in the form of hearing loss, tinnitus, vertigo, sense of aural fullness, and ear pain that are not known to have an non-ELST cause as reported by the patient at the two-year follow-up assessment. | Change in status of ELST diagnosis during the 8 year period from study initiation to the two-year follow-up assessment. | |
Secondary | Development of an ELST during the study period correlated to presence of subjective audio-vestibular symptoms at the five-year follow-up assessment. | Presence and size of an ELST as diagnosed by an MRI at any time during the study period correlated to presence of audio-vestibular symptoms in the form of hearing loss, tinnitus, vertigo, sense of aural fullness, and ear pain that are not known to have an non-ELST cause as reported by the patient at the five-year follow-up assessment. | Change in status of ELST diagnosis during the 5 year period from study initiation to the five-year follow-up assessment. |
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