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Molecular Analysis of Retinoblastoma

This study has been completed.
National Eye Institute (NEI)
Information provided by (Responsible Party):
St. Jude Children's Research Hospital Identifier:
First received: July 17, 2008
Last updated: December 13, 2016
Last verified: December 2016
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.

Condition Intervention
Retinoblastoma Other: Tissue samples taken from retinoblastoma Other: 5 ml peripheral blood

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Molecular Analysis of Retinoblastoma

Resource links provided by NLM:

Further study details as provided by St. Jude Children's Research Hospital:

Primary Outcome Measures:
  • Identify genes exhibiting differential expression within intraocular disease tissue between patients having only intraocular involvement and those having extraocular involvement. [ Time Frame: Indefinite ]

Biospecimen Retention:   Samples With DNA
  • Each tumor sample will be immediately transferred to a sterile cryovial and flash frozen in liquid nitrogen.
  • White blood cells will be isolated from the blood sample as a source of genomic DNA.

Enrollment: 41
Study Start Date: April 2007
Study Completion Date: December 2016
Primary Completion Date: December 2016 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Retinoblastoma Other: Tissue samples taken from retinoblastoma
Tissue banking
Other: 5 ml peripheral blood
White blood cells will be isolated from the blood sample as a source of genomic DNA.

Detailed Description:
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.

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with retinoblastoma

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.
  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 identifier: NCT00718783

Hospital Calvo Mackenna
Santiago, Chile
Hospital Escuela Bloque Materno Infantil
Tegucigalpa, Honduras
Sponsors and Collaborators
St. Jude Children's Research Hospital
National Eye Institute (NEI)
Principal Investigator: Rachel Brennan, MD St. Jude Children's Research Hospital
  More Information

Additional Information:
Responsible Party: St. Jude Children's Research Hospital Identifier: NCT00718783     History of Changes
Other Study ID Numbers: MARB
1R01EY018599 ( U.S. NIH Grant/Contract )
Study First Received: July 17, 2008
Last Updated: December 13, 2016

Additional relevant MeSH terms:
Neoplasms, Neuroepithelial
Neuroectodermal Tumors
Neoplasms, Germ Cell and Embryonal
Neoplasms by Histologic Type
Neoplasms, Glandular and Epithelial
Neoplasms, Nerve Tissue
Retinal Neoplasms
Eye Neoplasms
Neoplasms by Site
Eye Diseases
Retinal Diseases processed this record on September 19, 2017