Endolymphatic Sac Tumors in a Population of Patients With Von Hippel-Lindau Disease:The Natural History and Pathobiology, and a Prospective Non-Randomized Clinical Trial of Hearing Preservation Surgery in Patients With Early Stage Endolymphatic Sac Tumors

The von Hippel Lindau (VHL) gene has recently been identified as the genetic defect resulting in a syndrome of multiple neoplasias. Patients with VHL disease develop retinal angiomata, renal cysts and/or carcinomas, CNS hemangioblastomas as well as pancreatic cysts and pheochromocytomas. Investigators have shown the gene to be a tumor suppressor type proto-oncogene located at chromosomal locus 3p26. The gene includes three exons whose gene product targets a cellular transcription factor Elongin SIII. Binding of the VHL proteins to two subunits of this elongation factor inhibits transcription and may play a crucial role in the clinical development of the von Hippel Lindau phenotype.

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Key information

Conditions

Deafness Abnormalities, Multiple Angiomatosis Carcinoma Carcinoma, Papillary Cardiovascular Diseases Ciliopathies Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Ear Diseases Eye Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Hearing Disorders Hearing Loss Hemangioblastoma Hemangioma Hemangioma, Capillary Kidney Diseases Kidney Neoplasms Male Urogenital Diseases Neoplasms Neoplasms by Histologic Type Neoplasms by Site Neoplasms, Glandular and Epithelial Neoplasms, Squamous Cell Neoplasms, Vascular Tissue Nervous System Diseases Neurocutaneous Syndromes Neurologic Manifestations Otorhinolaryngologic Diseases Pathological Conditions, Signs and Symptoms Retinal Diseases Sensation Disorders Signs and Symptoms Urogenital Diseases Urogenital Neoplasms Urologic Diseases Urologic Neoplasms Vascular Diseases von Hippel-Lindau Disease

Sex eligibility

All sexes

Study type

Observational

Primary location

National Institute of Neurological Disorders and Stroke (NINDS)

Bethesda, Maryland, 20892, United States

About this study

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Patients meeting the diagnostic criteria for von Hippel-Lindau (VHL) disease.

No persons who are pregnant or lactating are eligible for the surgical arm of this protocol until the pregnancy and/or nursing period has reached completion.

No patients with disorders associated with multiple abnormalities of the middle ear and inner ear. Specific laboratory abnormalities such as anti-HIV-1, FTA-Abs, serum ANA, and ANCA have been associated with AIDS, Syphilis, Systemic Lupus Erythematosus, and Wegener's Granulomatosis, respectively.

No patients currently undergoing chemotherapeutic regimen with ototoxic agents (e.g., cisplatin). Other agents will be reviewed on a case-by-case basis for their potential to cause ototoxicity and thereby interfere with audiologic data interpretation.

Patients with an ELST in an only hearing ear will be excluded from the protocol for surgical treatment of ELST's (except in cases where other medical indications necessitate intervention for the welfare of the patient).

Patients with only unilateral vestibular function on the side affected by the ELST, as documented by caloric ENG testing, will be excluded from the surgical treatment group in most cases.

No patients with the inability to understand all of the requirements of the study or inability to give informed consent and/or comply with all aspects of the evaluation.

Sponsors and collaborators

Lead sponsor

National Institute of Neurological Disorders and Stroke (NINDS)

Nih

Registry information

Important dates

Study start: 1997
Study completion: 2000
First posted: Dec 10, 2002
Registry last updated: Mar 4, 2008

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed