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

This study has been completed.
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00001668
First received: November 3, 1999
Last updated: March 3, 2008
Last verified: May 1999
  Purpose

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.


Condition
Deafness
Kidney Diseases
Kidney Neoplasms
Neoplasms
Retinal Diseases

Study Type: Observational
Official Title: 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

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 75
Study Start Date: April 1997
Estimated Study Completion Date: April 2000
Detailed Description:

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.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

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.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00001668

Locations
United States, Maryland
National Institute of Neurological Disorders and Stroke (NINDS)
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
  More Information

No publications provided

ClinicalTrials.gov Identifier: NCT00001668     History of Changes
Other Study ID Numbers: 970102, 97-N-0102
Study First Received: November 3, 1999
Last Updated: March 3, 2008
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Deafness
Hemangioblastoma
Papillary Carcinoma
VHL Gene
Vestibular Function
von Hippel-Lindau Disease

Additional relevant MeSH terms:
Von Hippel-Lindau Disease
Kidney Diseases
Neoplasms
Deafness
Retinal Diseases
Kidney Neoplasms
Urologic Diseases
Hearing Loss
Hearing Disorders
Ear Diseases
Otorhinolaryngologic Diseases
Sensation Disorders
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Eye Diseases
Neurocutaneous Syndromes
Angiomatosis
Vascular Diseases
Cardiovascular Diseases
Urologic Neoplasms
Urogenital Neoplasms
Neoplasms by Site

ClinicalTrials.gov processed this record on September 16, 2014