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Circulating tumor DNA detection and quantification in patients with metastatic choroidal melanoma.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Blood sampling | Other |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Blood sampling | Biological | 30ml of patient peripherical blood will be collected |
|
| 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 |
| 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. |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Sophie PIPERNO-NEUMANN, MD | Institut Curie | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Institut Curie | Paris | 75005 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 23934701 | Result | 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. |
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Sponsor will share de-identified data sets. Documents generated under the project will be disseminated in accordance with Institut Curie policies.
Data requests can be submitted starting 9 months after last article publication and will be made accessible for up to 12 months.
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).
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| ID | Term |
|---|---|
| D000098943 | Uveal Melanoma |
| ID | Term |
|---|---|
| D008545 | Melanoma |
| D018358 | Neuroendocrine Tumors |
| D017599 | Neuroectodermal Tumors |
| D009373 | Neoplasms, Germ Cell and Embryonal |
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| ID | Term |
|---|---|
| D001800 | Blood Specimen Collection |
| ID | Term |
|---|---|
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
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| 2 years |
| D009370 | Neoplasms by Histologic Type |
| D009369 | Neoplasms |
| D009380 | Neoplasms, Nerve Tissue |
| D018326 | Nevi and Melanomas |
| D014604 | Uveal Neoplasms |
| D005134 | Eye Neoplasms |
| D009371 | Neoplasms by Site |
| D005128 | Eye Diseases |
| D014603 | Uveal Diseases |
| D011677 | Punctures |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |