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

NCT ID: NCT00001668

Last Updated: 2008-03-04

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 75 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 1997-04-30
• Study Completion Date: 2000-04-30

Brief Summary

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.

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.

Conditions

Deafness; Kidney Diseases; Kidney Neoplasms; Neoplasms; Retinal Diseases

Eligibility Criteria

Inclusion Criteria

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.

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

National Institute of Neurological Disorders and Stroke (NINDS)

NIH

Sponsor Role: lead

Locations

National Institute of Neurological Disorders and Stroke (NINDS)

Bethesda, Maryland, United States

Countries

United States

Other Identifiers

97-N-0102

Identifier Type: -

Identifier Source: secondary_id

970102

Identifier Type: -

Identifier Source: org_study_id