iSITE: Investigation of Somatic Alterations in Tumours of the Eye

Summary

Modern DNA sequencing technologies enable researchers to identify mutations that have been acquired during the lifetime of patients (somatic mutations). Some of these somatic mutations occur in cancer genes and increase the risk of developing cancer. This study will apply such sequencing technologies to cancers of the eye (ocular melanoma) in order to identify mutations associated with these cancers. Sequencing patients at different stages of their disease will allows us to build a timeline of the order of mutations that occur at each stage. This information can be used to understand how these cancers develop, spread (metastasise) and respond to treatment. Furthermore, the study will look at which of these somatic mutations are present in the blood, by collecting blood samples and sequencing fragments of DNA which have been released by tumours into the bloodstream (circulating tumour DNA, ctDNA). This will determine whether ctDNA can be used as a way of monitoring mutations present in the tumour. This study will provide much needed insight into a rare and understudied cancer type, with the long-term aim of improving the survival of patients by identifying key mutations to develop novel therapies against.

Conditions

• Somatic Mutation
• Ocular Melanoma

Interventions

OTHER

sample collection

sample collection of surplus samples not needed for diagnostic or pathological requirements

OTHER

Discussing study/seeking consent

An NHS or CRN staff member will inform patients of the nature and objectives of the study, go through the participant information sheet, highlighting possible risks associated with their participation and reiterate the voluntary nature of this study. Patients will be given opportunities to ask questions pertaining to the study. If the potential participant is still interested in taking part, written informed consent for the study will then be received and a copy of the informed consent will be given to the participant to keep.

OTHER

Completion of Study Questionnaire

Patient will complete in own time. To take place in a routine outpatient clinic appointment

OTHER

Blood Sample

To take place in an outpatient clinic.

Sponsors & Collaborators

• Moorfields Eye Hospital NHS Foundation Trust

  collaborator OTHER

• St. Bartholomew's Hospital

  collaborator OTHER

• The Wellcome Sanger Institute

  lead OTHER

Principal Investigators

• Pui Ying Chan · Wellcome Sanger Institute

Eligibility

Min Age

18 Years

Max Age

99 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2019-03-25

Primary Completion

2022-02-07

Completion

2025-02-28

Countries

• United Kingdom

Study Locations