Detailed Phenotypic and Genotype Study to Correlate RB1 Mutations Relating to Primary Ocular Tumors and Secondary Extra-ocular Metastasis.

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Total Enrollment

100 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-12-01

Study Completion Date

2031-01-01

Brief Summary

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The goal of this observational study is undertake a detailed phenotypic and genotypic study of patients with ocular and secondary cancers due to mutations in the RB1 gene. Our research sequencing approach will allow advanced insight to for further detailed genotypic understanding of parent-of-origin for valuable insight into the genotype-phenotype relationship of this cancer syndrome.

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Detailed Description

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Conditions

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Retinoblastoma Bilateral Retinoblastoma Unilateral Retinoblastoma, Extraocular Retinoblastoma, Recurrent Retinoblastoma

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Patients with presumed germline retinoblastoma due to RB1 mutation

Targeted Long-read sequencing

Intervention Type GENETIC

All patient's will undergo targeted long-read sequencing to resolve genomic and epigenomic signatures of the RB1 gene

Interventions

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Targeted Long-read sequencing

All patient's will undergo targeted long-read sequencing to resolve genomic and epigenomic signatures of the RB1 gene

Intervention Type GENETIC

Other Intervention Names

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Long-read sequencing

Eligibility Criteria

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Inclusion Criteria

* Patients with molecularly proven retinoblastoma due to RB1 or a typical clinical retinoblastoma phenotype with genetic screening pending.
* Able to give consent/parent or guardian able to give consent.

Exclusion Criteria

* Patients unable or unwilling to undertake consent or clinical testing.
* Patients unwilling to donate a saliva or blood sample in order to establish the genetic cause of their condition.

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes