Checks for early inner ear tumours in people with von Hippel-Lindau disease
Studies how to screen people with von Hippel-Lindau disease for inner ear tumours early.
Plain-language title generated from the registry record
Registry title: Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) Patients
Key facts
- Where
- Copenhagen, DenmarkSee the site
Where in Denmark
- Department of Cellular and Molecular Medicine, University of CopenhagenCopenhagen, DenmarkTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Marie Luise Bisgaard, MD
- Trial code
- NCT02420067
- Record updated
- 9 May 2017
- Original description
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.Read full original descriptionShow less
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.
Inclusion: 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: Children under the age of 15 years.