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
| Condition(s) | Von Hippel-Lindau Disease |
|---|---|
| Status | Recruiting |
| Study type | Observational |
| 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 a |
| Who can participate | 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 |
| Ages | 15 Years |
| Sex | All |
| Lead sponsor | Marie Luise Bisgaard, MD |
| Locations | Copenhagen, Copenhagen N, Denmark |
| Start date | 2011-02 |
| NCT ID | NCT02420067 |
| Official listing | https://clinicaltrials.gov/study/NCT02420067 |