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

NCT02420067 | Recruiting

• 1 other identifier: H-A-2007-0125, A
• Study Type: observational
• Target: 380
• Locations: 1 country
• Sites: 1

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.

Conditions

Von Hippel-Lindau Disease

Keywords

von Hippel-Lindau disease; Endolymphatic sac tumors; Audiological examination; MRI; Surveillance

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (11)

• In each ear: development of an ELST during the study period correlated to hearing level at two year follow-up.

  Change in status of ELST diagnosis from during the 8 year period from two year follow-up to study end.

• In each ear: development of an ELST during the study period correlated to hearing level at five year follow-up.

  Change in status of ELST diagnosis from during the 5 year period from five year follow-up to study end.

• 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.

  Change in status of ELST diagnosis during the 10 year period from study initiation to study end.

• 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..

  Change in status of ELST diagnosis during the 8 year period from study initiation to 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 A 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.

Other Outcomes (3)

• VHL mutation status related to presence of hearing loss and/or presence of ELST at any time during the study.

  Assessed at the end of the study ten year after study initiation.

• Type of VHL mutation related to presence of hearing loss and/or presence of ELST at any time during the study.

  Assessed at the end of the study ten year after study initiation

• Type of clinical vHL type related to presence of hearing loss and/or presence of ELST at any time during the study.

  Assessed at the end of the study ten year after study initiation

Eligibility Criteria

• Age: 15 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

vHL patients, with or without a diagnosed ELST, who have had at least one audiological examination AND one MRI of the brain and inner ear within a 12 month period

You may qualify if:

• 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

You may not qualify if:

• Children under the age of 15 years

Sponsors & Collaborators

• Marie Luise Bisgaard, MD: lead
• Rigshospitalet, Denmark: collaborator
• St Thomas' Hospital, London: collaborator
• Fundación Hospital de Madrid: collaborator
• National Cancer Centre, Singapore: collaborator
• Yokosuka City Shimin Hospital: collaborator
• Amrita Institute of Medical Sciences & Research Center: collaborator

Study Sites (1)

Department of Cellular and Molecular Medicine, University of Copenhagen

Copenhagen, Copenhagen N, DK-2200, Denmark

RECRUITING

MeSH Terms

Conditions

von Hippel-Lindau Disease

Condition Hierarchy (Ancestors)

Neurocutaneous Syndromes; Nervous System Diseases; Angiomatosis; Vascular Diseases; Cardiovascular Diseases; Ciliopathies; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Study Officials

• Marie Luise Bisgaard, M.D.

  Department of Cellular and Molecular Medicin, University of Copenhagen

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Marie Luise Bisgaard, M.D.

CONTACT

004531333582; mlbi@sund.ku.dk

Marie Louise M Binderup, M.D.

CONTACT

004526363991; mlmb@sund.ku.dk

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Associate Professor

Study Record Dates

• First Submitted: April 9, 2015
• First Posted: April 17, 2015
• Study Start: February 1, 2011
• Primary Completion: December 1, 2017
• Study Completion (Estimated): December 1, 2026
• Last Updated: May 9, 2017

Record last verified: 2017-05

Locations

DK (1)