Molecular Analysis of Retinoblastoma

Retinoblastoma is a childhood tumor of the retina that affects approximately 1 in 18,000 children. Retinoblastoma is more prevalent in Central America, where most patients present with advanced intraocular and extraocular disease. Therefore, we have formed collaboration with Central American investigators to provide us with frozen retinoblastoma tumors from patients undergoing routine enucleation. The objective of this protocol is to begin to identify the mutations and gene expression changes that occur in retinoblastoma cells following RB1 gene inactivation in order to more effectively target chemotherapy for treating bilateral retinoblastoma.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Retinoblastoma Eye Diseases Eye Diseases, Hereditary Eye Neoplasms Neoplasms Neoplasms by Histologic Type Neoplasms by Site Neoplasms, Germ Cell and Embryonal Neoplasms, Glandular and Epithelial Neoplasms, Nerve Tissue Neoplasms, Neuroepithelial Neuroectodermal Tumors Retinal Diseases Retinal Neoplasms

Sex eligibility

All sexes

Study type

Observational

Primary location

Hospital Calvo Mackenna, Santiago, Santiago Metropolitan, Chile

About this study

This is a biology protocol with no treatment regimen associated. Following routine enucleation of the retinoblastoma affected eye, a portion of the tumor will be removed and flash frozen and sent to St. Jude for RNA and DNA analysis. Some tissue will undergo histopathological analysis and tissue microarrays will be isolated.

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

Must have clinical diagnosis of retinoblastoma (to be confirmed histologically after enucleation)
Legal guardians must willing to sign an informed consent indicating that they are aware of this study and its possible benefits. Legal guardians will be given a copy of the consent form.
Patient is being seen at this AHOPCA institution:

Exclusion criteria

Ophthalmologist or oncologist is concerned that sampling will interfere with staging.
Diagnosis other than retinoblastoma.
Affiliated hospital is unable to provide pathologic evidence of retinoblastoma.

Treatment and study plan

Tissue samples taken from retinoblastoma

Other

Tissue banking

5 ml peripheral blood

Other

White blood cells will be isolated from the blood sample as a source of genomic DNA.

Primary outcomes

Identify genes exhibiting differential expression within intraocular disease tissue between patients having only intraocular involvement and those having extraocular involvement.

Time frame: Indefinite

Sponsors and collaborators

Lead sponsor

St. Jude Children's Research Hospital

Other

Collaborators

National Eye Institute (NEI)

Registry information

Important dates

Study start: 2007
Primary completion: 2016
Study completion: 2016
First posted: Jul 21, 2008
Registry last updated: Dec 14, 2016

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