An observational study in Retinoblastoma and Secondary Primary Malignancies After Retinoblastoma, sponsored by Amsterdam UMC, location VUmc. Completed at 3 sites in 3 countries. Open to participants aged 0 Years to 99 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2023-07-25.
Sponsored by Amsterdam UMC, location VUmc · Observational
Rationale: Individuals with a cancer predisposition due to a mutation in the paradigm tumor suppressor gene RB1, have a high risk to develop the childhood cancer retinoblastoma (Rb). Biopsies are not possible in Rb, before treatment selection. Heritable Rb patients have also a high risk to develop other types of second primary, either childhood or adult, malignancies (SPMs), notably sarcomas and melanomas. Remarkably, SPMs are now the leading cause of death in heritable-Rb-survivors. Unfortunately, there are no well-developed regular surveillance protocols for SPMs in Rb survivors available right now. Recently, new non-invasive cancer test have been developed, based on either RNA-sequencing data from platelets (ThromboSeq), or on extracellular membrane vesicles (EVs) derived from tumor cells present in blood.
Objective:
Study design: Cross-sectional multicenter trial.
Study population:
Main study parameters/endpoints:
Nature and extent of the burden and risks associated with participation, benefit and group relatedness:
Two blood samples totalling 10ml blood will be collected for every participant. Additionally, a short questionnaire has to be filled in concerning their and their family's cancer history. Blood draws will be done, when participants are already present in the hospital for other appointments, and thus no extra visits are required. For all children, blood will be collected through an already present IV, and so no extra venepuncture is required. Children have to be included because Rb is a tumor only present in this patient group.
9,365 studies on the registry are indexed under Neoplasms; 2,489 are open to participants now.
This study's enrollment of 378 is above the median of 204 across 1,683 observational studies indexed under Neoplasms.
Browse Neoplasms studies →Amsterdam UMC, location VUmc is the lead sponsor of 302 studies on the registry; 84 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Control samples for the Rb survivor group (adult) are already available at the VUMC for the platelet study; unselected volunteers from an anti-cancer campaign. Control samples (adult) for the EV study will be collected in a blooddrive at the Essen site.
Pediatric patients. For the pediatric Rb patients, blood draw is part of standard care (3mth-4y). The control blood samples of healthy children (12) will be drawn from healthy children, where the blood draw is already part of otherwise planned care (e.g. patients which are completely healthy besides having an unrelated problem for which surgery is required). Controls will be age-matched as much as possible.
Adult (16 years and older):
Pediatric (until 6 years of age):
Exclusion Criteria:
Adult (16 years and older):
Pediatric (until 6 years of age):
Children that are currently diagnosed with a retinoblastoma. Blood will be collected and a short questionnaire has to be filled by the parent or legal guardian. Samples will be taken together with standard care blood draw, so no extra venepuncture is required.
Other: blood draw
Children with an unrelated problem/condition for which surgery is needed Blood will be collected and a short questionnaire has to be filled by the parent or legal guardian. Samples will be taken during standard care blood draw, so no extra venepuncture is required.
Other: blood draw
Adults that carry a RB1 germline mutation and were diagnosed and treated for retinoblastoma in the past. Blood will be collected and a short questionnaire has to be filled.
Other: blood draw
Healthy adult controls Blood will be collected and a short questionnaire has to be filled.
Other: blood draw
Adults that carry a RB1 germline mutation, were treated for retinoblastoma in the past, and are currently diagnosed with a secondary primary malignancy. Blood will be collected and a short questionnaire has to be filled. Tumor tissue will be collected during surgery.
Other: blood draw
Control samples for the Rb survivor group (adult) are already available at the VUMC for the platelet study; unselected volunteers from an anti-cancer campaign. Control samples (adult) for the EV study will be collected in a blooddrive at the Essen site. Pediatric patients. For the pediatric Rb patients, blood draw is part of standard care (3mth-4y). The control blood samples of healthy children (12) will be drawn from healthy children, where the blood draw is already part of otherwise planned care (e.g. patients which are completely healthy besides having an unrelated problem for which surgery is required). Controls will be age-matched as much as possible.
RNA expression on platelets and allelic DNA balance of EVs in the blood of adult RB1 mutation carriers (Rb-survivors) and retinoblastoma patients (children).
blood analyses at time of inclusion to determine baseline
Time frame: blood will be taken at study inclusion, patients will be followed throughout the study, max 3 years and 9 months.
RNA expression on platelets, allelic DNA balance of EVs in blood and genomic analysis on tumor tissue of RB1-mutation carriers diagnosed with a second primary malignancy.
Comparison of blood at time of inclusion and blood at time of SPM diagnosis versus tumor tissue (if available)
Time frame: blood will be taken at study inclusion, patients will be followed throughout the study, max 3 years and 9 months. In case of second primary tumor a second sample will be taken.
Plan to share: Undecided
No publications or documents are linked to this record.
This study is completed, as verified in Jul 2023. You cannot join it, but the record below documents what was studied.
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Amsterdam UMC, location VUmc