Neoplasms

Eye Diseases

All Conditions

Diseases and Abnormalities at or Before Birth

Rare Diseases

Retinoblastoma

Neoplasms, Neuroepithelial

Neuroectodermal Tumors

Neuroectodermal Tumors, Primitive

Neoplasms, Germ Cell and Embryonal

Neoplasms by Histologic Type

Neoplasms, Glandular and Epithelial

Neoplasms, Nerve Tissue

Retinal Neoplasms

Eye Neoplasms

Eye Diseases, Hereditary

Retinal Diseases

Neuroepithelioma

Mariana F Lima, MD, PhD

Mariana F Lima, MD

Prospective observational study in patients undergoing intra-arterial ophthalmic artery chemotherapy for the treatment of retinoblastoma. The main objective of the study is to evaluate the incidence of cardiorespiratory autonomic reflexes in these patients and to investigate the association between autonomic reflexes and perioperative clinical characteristics.

Autonomic Reflexes During Intra-arterial Chemotherapy for Retinoblastoma

Cardiorespiratory Autonomic Reflexes During Superselective Ophthalmic Artery Chemotherapy for Retinoblastoma in Children: a Prospective Observational Study.

To evaluate the incidence of cardiorespiratory autonomic reflexes during intra-arterial chemotherapy of the ophthalmic artery in a child cancer center.

To evaluate the association between perioperative characteristics (both baseline and intraoperative characteristics) and the incidence of cardiorespiratory autonomic reflexes

Federal University of São Paulo

Principal Investigator

Jesse L Berry, MD

Jesse Berry, MD

Retinoblastoma (RB) is a primary eye cancer that forms in the back of the eye of infants and toddlers. Traditionally, RB is diagnosed without a biopsy; tumor can only be studied once an eye has been surgically removed.

Given this limitation, we use aqueous humor (AH), the clear fluid in the front of the eye to detect specific markers, or information, that comes from the tumor itself.

Retinoblastoma (RB) is a primary intraocular malignancy that forms in the retina of infants and toddlers. Traditionally, RB is diagnosed without tissue as direct tumor biopsy is prohibited due to risk of extraocular spread; tissue can only be obtained once an eye has been surgically removed.

Given this limitation, there are no eye-specific molecular biomarkers in current clinical practice for RB. The lack of in vivo molecular data without removing the eye limits our ability to prognosticate clinical outcomes and develop personalized treatment plans. It also limits our understanding of intratumoral dynamics throughout therapy.

The aqueous humor (AH) is a high-yield source of tumor-derived nucleic acid that can be utilized as a liquid biopsy in eyes with retinoblastoma. Detection of biomarkers from the AH may be used to prognosticate the likelihood of eye salvage and in the future may facilitate targeted, patient-centered therapies based on molecular biomarkers.

OBJECTIVES:

1. Systematically and prospectively record accurate and complete data regarding the clinical presentation, treatment, and outcomes of patients diagnosed with RB.
2. Collect, bank, preserve, and analyze biomaterials including AH, blood and saliva from patients with RB.
3. Correlate phenotypic data with genotypic findings from human biomaterials in retinoblastoma patients to identify clinically relevant biomarkers

RB Liquid Biopsy Biorepository

Retinoblastoma Patient Clinical Database, Liquid Biopsy and Tissue Biorepository

De-identified data will be available to other researchers via NIH GDS/dbGAP controlled databases.

We aim to evaluate whether any identifiable molecular biomarkers (e.g. chromosomal alterations or tumor fraction) in the aqueous or blood can predict ocular salvage, or the likelihood of saving the eye with therapy

We aim to identify both somatic and germline RB1 gene mutations in the AH

We aim to evaluate whether any identifiable molecular biomarkers in the aqueous or blood can predict the presence of high risk histopathologic features that are known to increase risk of metastatic disease

We aim to evaluate whether any identifiable molecular biomarkers in the aqueous or blood are associated with the presence of type of seeding

Study title	NCT ID	Conditions	Eligibility	Organization
Autonomic Reflexes During Intra-arterial Chemotherapy for Retinoblastoma	NCT04451304	Retinoblastoma Retinoblastoma ... Chemotherapy Ef...	- 18 Years	Federal University of São Paulo
Autonomic Reflexes During Intra-arterial Chemotherapy for Retinoblastoma	NCT04451304	Retinoblastoma Retinoblastoma ... Chemotherapy Ef...	- 18 Years	Federal University of São Paulo
Autonomic Reflexes During Intra-arterial Chemotherapy for Retinoblastoma	NCT04451304	Retinoblastoma Retinoblastoma ... Chemotherapy Ef...	- 18 Years	Federal University of São Paulo
RB Liquid Biopsy Biorepository	NCT04959097	Retinoblastoma Retinoblastoma ... Retinoblastoma ...	0 Years - 18 Years	Children's Hospital Los Angeles
Autonomic Reflexes During Intra-arterial Chemotherapy for Retinoblastoma	NCT04451304	Retinoblastoma Retinoblastoma ... Chemotherapy Ef...	- 18 Years	Federal University of São Paulo

Spots Global Cancer Trial Database for retinoblastoma bilateral