New strategies to detect cancers in carriers of mutations in RB1: blood tests based on tumor-educated platelets, or extracellular vesicles.

New strategies to detect cancers in carriers of mutations in RB1: blood tests based on tumor-educated platelets, or extracellular vesicles. - NIRBTEST

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON50529

Enrollment

Registered

2018-09-06

Start date

2018-12-13

Completion date

Unknown

Last updated

2024-04-15

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

eye cancer retinoblastoma

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: - Adult: Group 1: germline mutation RB1 Group 2 (control): no germline mutation RB1 - Pediatric: Group 1: mutation RB1 and retinoblastoma Group 2 (control): no mutation RB1

Exclusion criteria

Exclusion criteria: - Adult: Group 1: concomitant heritable (inherited) disorder other than caused by monoallelic mutation of RB1 Group 2 (control): cancer or already known cancer predisposition syndrome - Pediatric: Group 1: concomitant heritable (inherited) disorder other than caused by monoallelic mutation of RB1 Group 2: cancer or already known cancer predisposition syndrome

Design outcomes

Primary

Measure	Time frame
- The development of a test which can detect cancers in the RB1-mutation carriers.	—

Secondary

Measure	Time frame
- The determination whether either the EV or the platelet-based technique performs superior as a test, or that both test will be complementary. - The cell free DNA fraction will also be isolated from collected blood samples. This material will serve as part of an contingency plan when EV or platelet testing is not discriminative enough. Furthermore, if additional funding is acquired by the Curie site, cfDNA from patients with SPMs (10 patients are expected with SPMs) will be used for additional testing. Results will be compared to germline DNA isolated from leukocytes present in the buffy coat and to second tumor material if available. The samples will be whole exome sequenced, combined with targeted sequencing of specific regions. For this study, involving whole genome sequencing, an extra consent form will be signed by the patients.	—

Measure

Time frame

- The determination whether either the EV or the platelet-based technique performs superior as a test, or that both test will be complementary. - The cell free DNA fraction will also be isolated from collected blood samples. This material will serve as part of an contingency plan when EV or platelet testing is not discriminative enough. Furthermore, if additional funding is acquired by the Curie site, cfDNA from patients with SPMs (10 patients are expected with SPMs) will be used for additional testing. Results will be compared to germline DNA isolated from leukocytes present in the buffy coat and to second tumor material if available. The samples will be whole exome sequenced, combined with targeted sequencing of specific regions. For this study, involving whole genome sequencing, an extra consent form will be signed by the patients.

—

Countries

Netherlands

Outcome results