NCT00001668

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
75

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Apr 1997

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

April 1, 1997

Completed
2.6 years until next milestone

First Submitted

Initial submission to the registry

November 3, 1999

Completed
5 months until next milestone

Study Completion

Last participant's last visit for all outcomes

April 1, 2000

Completed
2.7 years until next milestone

First Posted

Study publicly available on registry

December 10, 2002

Completed
Last Updated

March 4, 2008

Status Verified

May 1, 1999

First QC Date

November 3, 1999

Last Update Submit

March 3, 2008

Conditions

DeafnessKidney DiseasesKidney NeoplasmsNeoplasmsRetinal Diseases

Keywords

DeafnessHemangioblastomaPapillary CarcinomaVHL GeneVestibular Functionvon Hippel-Lindau Disease

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
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.

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

Study Sites (1)

National Institute of Neurological Disorders and Stroke (NINDS)

Bethesda, Maryland, 20892, United States

Location

MeSH Terms

Conditions

DeafnessKidney DiseasesKidney NeoplasmsNeoplasmsRetinal DiseasesHemangioblastomaCarcinoma, Papillaryvon Hippel-Lindau Disease

Condition Hierarchy (Ancestors)

Hearing LossHearing DisordersEar DiseasesOtorhinolaryngologic DiseasesSensation DisordersNeurologic ManifestationsNervous System DiseasesSigns and SymptomsPathological Conditions, Signs and SymptomsUrologic DiseasesFemale Urogenital DiseasesFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital DiseasesMale Urogenital DiseasesUrologic NeoplasmsUrogenital NeoplasmsNeoplasms by SiteEye DiseasesHemangioma, CapillaryHemangiomaNeoplasms, Vascular TissueNeoplasms by Histologic TypeCarcinomaNeoplasms, Glandular and EpithelialNeoplasms, Squamous CellNeurocutaneous SyndromesAngiomatosisVascular DiseasesCardiovascular DiseasesCiliopathiesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGenetic Diseases, Inborn

Study Design

Study Type
observational
Sponsor Type
NIH

Study Record Dates

First Submitted

November 3, 1999

First Posted

December 10, 2002

Study Start

April 1, 1997

Study Completion

April 1, 2000

Last Updated

March 4, 2008

Record last verified: 1999-05

Locations

US(1)