Molecular Analysis of Retinoblastoma

NCT00718783 | Completed

• 2 other identifiers: MARB1R01EY018599
• Study Type: observational
• Target: 41
• Locations: 2 countries
• Sites: 2

Brief Summary

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.

Conditions

Retinoblastoma

Outcome Measures

Primary Outcomes (1)

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

  Indefinite

Study Arms (1)

Retinoblastoma

Other: Tissue samples taken from retinoblastoma; Other: 5 ml peripheral blood

Interventions

Tissue samples taken from retinoblastoma OTHER

Tissue banking

Retinoblastoma

5 ml peripheral blood OTHER

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

Retinoblastoma

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with retinoblastoma

You may qualify if:

• 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:

You may not qualify if:

• 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.

Sponsors & Collaborators

• St. Jude Children's Research Hospital: lead
• National Eye Institute (NEI): collaborator

Study Sites (2)

Hospital Calvo Mackenna

Santiago, Santiago Metropolitan, Chile

Location

Hospital Escuela Bloque Materno Infantil

Tegucigalpa, Honduras

Location

Related Links

• St. Jude Children's Research Hospital
• Clinical Trials Open at St. Jude

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.

MeSH Terms

Conditions

Retinoblastoma

Condition Hierarchy (Ancestors)

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

Study Officials

• Rachel Brennan, MD

  St. Jude Children's Research Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 17, 2008
• First Posted: July 21, 2008
• Study Start: April 1, 2007
• Primary Completion: December 1, 2016
• Study Completion: December 1, 2016
• Last Updated: December 14, 2016

Record last verified: 2016-12

Locations

CL (1); HO (1)