Clinical Trial: Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) Patients

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: An International Collaborative Study: Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) Patients

Brief Summary:

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.


Detailed Summary:

Background:

von Hippel-Lindau disease (vHL) is a hereditary multi-system disease requiring life-long prophylactic surveillance. Affected individuals are predisposed to development of tumors and cysts in multiple organs. In recent years, it has become apparent that endolymphatic sac tumors (ELSTs), aggressive tumors of the petrous bone, occur in up to 16% of vHL patients. ELST can lead to severe and progressive hearing loss and vertigo as well as other audio-vestibular and neurological symptoms. However, surgical excision of tumors can preserve patients' pre-operative hearing level, and eliminate most other audio-vestibular symptoms. As even small ELSTs have been shown to lead to sudden and irreversible deafness, timely diagnosis of ELSTs is essential to prevent severe audio-vestibular morbidity in ELST patients. Several recommendations of ELST surveillance in vHL patients have been proposed; some suggest that diagnostic tests for ELST should be done only in vHL patients with subjective audio-vestibular symptoms, while others recommend audiological examinations or MRI of the inner ear in all vHL patients as a screening tool. However, there has not previously been much focus on specification of screening strategies, and it is not known, which is the most optimal approach. The results of a national study of ELST surveillance among Danish vHL patients indicated that specific patterns of audiologic parameters in patients with ELSTs, indicating that a distinct audiologic pattern may be typical in ELST development, perhaps even before the ELST is detectable on MRI. However, a larger study of audiologic parameters in vHL patients with and without diagnosed ELSTs is needed in order to fully investigate such a model and its use in early ELST detection.

Objective The overall objective of this study is to establish audiologic characte
Sponsor: Marie Luise Bisgaard, MD

Current Primary Outcome: In each ear: development of an ELST during the study period correlated to baseline hearing level. [ Time Frame: Change in status of ELST diagnosis from during the ten year period from study baseline to study end. ]

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.


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • In each ear: development of an ELST during the study period correlated to hearing level at two year follow-up. [ Time Frame: Change in status of ELST diagnosis from during the 8 year period from two year follow-up to study end. ]
    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.
  • In each ear: development of an ELST during the study period correlated to hearing level at five year follow-up. [ Time Frame: Change in status of ELST diagnosis from during the 5 year period from five year follow-up to study end. ]
    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.
  • 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. [ Time Frame: Change in status of ELST diagnosis during the 10 year period from study initiation to study end. ]
    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.
  • 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.. [ Time Frame: Change in status of ELST diagnosis during the 8 year period from study initiation to 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.
  • 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. [ Time Frame: Change in status of ELST diagnosis during the 5 year period from study initiation to 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.
  • 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. [ Time Frame: Change in status of ELST diagnosis during the 10 year period from study initiation to study end. ]
    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.
  • 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. [ Time Frame: Change in status of ELST diagnosis during the 8 year period from study initiation to 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.
  • 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. [ Time Frame: Change in status of ELST diagnosis during the 5 year period from study initiation to 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.
  • Development of an ELST during the study period correlated to presence of subjective audio-vestibular symptoms at the baseline assessment. [ Time Frame: Chan

    Original Secondary Outcome: Same as current

    Information By: University of Copenhagen

    Dates:
    Date Received: April 9, 2015
    Date Started: February 2011
    Date Completion: December 2026
    Last Updated: May 6, 2017
    Last Verified: May 2017