Study of Circulating Tumoral DNA in Metastatic Choroidal Melanoma

Development and Validation of a Circulating Tumor DNA Detection Technique in Patients With Metastatic Choroidal Melanoma

Circulating tumor DNA detection and quantification in patients with metastatic choroidal melanoma.

Study Overview

• Status: Completed
• Conditions: Choroidal Melanoma, Diffuse
• Intervention / Treatment: Biological: Blood sampling

Detailed Description

Technique development: In first step, the different available techniques will be evaluated for specificity and sensibility using serial dilutions of cell lines with or without GNAQ mutation.

Validation: The tumor DNA detection rate will be estimated from metastatic uveal patient's blood. The investigators will study 40 patients to obtain at least 15 patients bearing a GNAQ mutation in the primitive tumor or in metastasis. With those 15 patients, the investigators will determinate the most sensitive technique and the best cost/efficiency ratio.

• Study Type: Interventional
• Enrollment (Actual): 40
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Paris, France, 75005
    • Institut Curie

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Age > or = 18 years.
• Patient with a metastatic choroidal melanoma.
• Patient with tumor or metastasis available for GNAQ (Guanine nucleotide blinding protein) status characterization.
• Patient able to stand a blood collection.
• Signed written informed consent approved by competent authority and ethic committee.

Exclusion Criteria:

• Patient without social protection/insurance.
• Current pregnancy and lactation.
• All social, medical, psychological, situations making the study impossible.
• Person deprived of liberty.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: Blood sampling	Biological: Blood sampling; 30ml of patient peripherical blood will be collected

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Assessment and development of circulating tumor DNA detection techniques	Quantification of circulating tumor DNA in blood samples. Results expressed in number of samples where circulating DNA is present.	2 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Detection technique comparison (PAP (pyrophosphorolysis activated polymerisation), BEAMing, NGS(next sequencing generation)) in terms of feasibility, robustness, sensitivity and cost.	The methods of detection which will be used such as the BEAMing, the PAP (Pyrophosphorolysis-activated polymerization) and NGS (next sequencing generation)is techniques of a big specificity capable of detecting a mutant copy among 1.104 wild copies for the BEAMing, 2.109 for the PAP and 1.105 for the NGS. The sensibility of these techniques is limited by the quantity of genomic DNA which we can extract from the sample of blood.	2 years

Collaborators and Investigators

• Sponsor: Institut Curie
• Investigators: Principal Investigator: Sophie PIPERNO-NEUMANN, MD, Institut Curie

Publications and helpful links

General Publications

• Bidard FC, Madic J, Mariani P, Piperno-Neumann S, Rampanou A, Servois V, Cassoux N, Desjardins L, Milder M, Vaucher I, Pierga JY, Lebofsky R, Stern MH, Lantz O. Detection rate and prognostic value of circulating tumor cells and circulating tumor DNA in metastatic uveal melanoma. Int J Cancer. 2014 Mar 1;134(5):1207-13. doi: 10.1002/ijc.28436. Epub 2013 Sep 3.

Study record dates

Study Major Dates

• Study Start: April 1, 2011
• Primary Completion (Actual): February 1, 2012
• Study Completion (Actual): May 1, 2012

Study Registration Dates

• First Submitted: March 31, 2011
• First Submitted That Met QC Criteria: April 11, 2011
• First Posted (Estimated): April 12, 2011

Study Record Updates

• Last Update Posted (Estimated): November 24, 2025
• Last Update Submitted That Met QC Criteria: November 19, 2025
• Last Verified: November 1, 2025

More Information

Terms related to this study

• Keywords: Circulating tumor DNA; Choroidal Melanoma
• Additional Relevant MeSH Terms: Neoplasms by Site; Neoplasms; Neoplasms by Histologic Type; Eye Diseases; Neuroectodermal Tumors; Neoplasms, Germ Cell and Embryonal; Neoplasms, Nerve Tissue; Neuroendocrine Tumors; Nevi and Melanomas; Eye Neoplasms; Uveal Diseases; Melanoma; Uveal Neoplasms; Uveal Melanoma; Investigative Techniques; Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Blood Specimen Collection
• Other Study ID Numbers: IC 2010-02

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: Sponsor will share de-identified data sets. Documents generated under the project will be disseminated in accordance with Institut Curie policies.
• IPD Sharing Time Frame: Data requests can be submitted starting 9 months after last article publication and will be made accessible for up to 12 months.
• IPD Sharing Access Criteria: Access to trial individual participant data can be requested by qualified researchers engaging in independent scientific research, and will be provided following review and approval of a research proposal and Statistical Analysis Plan (SAP) and execution of a data sharing agreement (DSA).
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; SAP