New Strategies to Detect Cancers in Carriers of Mutations in RB1

Learn more about:
Related Clinical Trial
Adjuvant Chemotherapy for High-risk Postenucleation Retinoblastoma A Clinical Study on the Efficacy and Safety of VEC Intravenous Chemotherapy Combined With Conbercept Intravitreal Injection in the Treatment of Retinoblastoma RB Liquid Biopsy Biorepository Topotecan and Melphalan for Retinoblastoma Effect of Anesthetic Drugs on Neurocognitive Function in Children With Retinoblastoma Requiring Multiple Anesthetic Exposure – Preliminary Study Ocular Conservative Treatment for Retinoblastoma : Efficacy of the New Management Strategies and Visual Outcome Nitroglycerin for Intra-arterial Chemotherapy in Pediatric Retinoblastoma. Autonomic Reflexes During Intra-arterial Chemotherapy for Retinoblastoma Therapeutic Recommendations For The Treatment Of Children With A Retinoblastoma Photodynamic Therapy With Visudyne for Human Retinoblastoma: A Preliminary Study Topotecan Episcleral Plaque for Treatment of Retinoblastoma G-CSF Alone or Combination With GM-CSF on Prevention and Treatment of Infection in Children With Malignant Tumor Comprehensive Omics Analysis of Pediatric Solid Tumors and Establishment of a Repository for Related Biological Studies Chemotherapy Followed by Peripheral Stem Cell Transplantation in Treating Children With Newly Diagnosed Brain Tumor Mobile Health Case Management System for Reducing Pediatric Treatment Abandonment PCI Imaging System in Pediatric Ophthalmology Evaluate Safety and the Oncolitic Adenovirus VCN-01 Activity in Patients With Refractory Retinoblastoma Determining Whether Multiple Anesthesia Exposures Affect Cognitive Function for Retinoblastoma Patients Conservative Treatments of Retinoblastoma Study of Treatment for Patients With Cancer of the Eye -Retinoblastoma Intra-arterial Chemotherapy for Advanced Intraocular Retinoblastoma Photoscreening for Retinoblastoma RCT of Ballon Technique VS Selective Ophthalmic Artery Infusion For the Retinoblastoma Patients Studying Health Outcomes After Treatment in Patients With Retinoblastoma Chemotherapy Treatment for Children With Intraocular Germ-Line Retinoblastoma Genetic Mutations and Environmental Exposure in Young Patients With Retinoblastoma and in Their Parents and Young Healthy Unrelated Volunteers A Study of the Effectiveness of a Local Injection of Chemotherapy for Retinoblastoma Intra-arterial Chemotherapy for Retinoblastoma Intra-arterial Chemotherapy With Melphalan for the Treatment of Retinoblastoma (RTB) in Advanced Intraocular Stage Determination of the Sensitivity and Specificity of a Smartphone Application to Detect Retinoblastoma Phase I Trial of Periocular Topotecan in Retinoblastoma Episcleral Topotecan for Treatment of Group D Retinoblastoma Can Pretreatment MRI be Used to Predict Intra-arterial Chemotherapy Response in Retinoblastoma? CEV With/Without Periocular Carboplatin Chemotherapy for Extraocular Retinoblastoma Chemotherapy With or Without Radiation Therapy or Observation in Treating Young Patients With Advanced Retinoblastoma Who Have Undergone Surgery to Remove the Eye Combination Chemotherapy, Radiation Therapy, and Bone Marrow Transplantation in Treating Patients With Retinoblastoma Intravitreal Carboplatin for the Treatment of Participants With Recurrent or Refractory Intraocular Retinoblastoma Superselective Intra-arterial Chemotherapy Treatment for Retinoblastoma- 5 Year Results From Turkey Intra-arterial Chemotherapy(Chemosurgery) for Retinoblastoma Adjuvant Chemotherapy for High-risk Retinoblastoma After Enucleation Alternating Systemic Chemotherapy and Intra-Arterial Melphalan (IAM) Chemotherapy in Children With Intra-Ocular Retinoblastoma Chemotherapy in Treating Patients With Retinoblastoma New Strategies to Detect Cancers in Carriers of Mutations in RB1 Pilot Study of Topotecan/Vincristine With Subconjunctival Carboplatin for Patients With Bilateral Retinoblastoma Carboplatin Plus Vincristine in Treating Children With Retinoblastoma Combination Chemotherapy and Cyclosporine Followed by Focal Therapy for Bilateral Retinoblastoma Proton Beam Radiation Therapy for Intraocular and Periocular Retinoblastoma Quality of Life in Children Cured of Retinoblastoma Adjuvant Treatment in Extensive Unilateral Retinoblastoma Primary Enucleated (RB SFCE 2009) Cardio-respiratory Events During Ophthalmic Artery Chemotherapy for Retinoblastoma Under a Deep Anesthesia Protocol for the Study and Treatment of Participants With Intraocular Retinoblastoma SPT Screening in Irradiated Hereditary Retinoblastoma Survivors Attention to Retinoblastoma Diagnosed in the Trauma Setting Carboplatin Periocular Injection for Retinoblastoma Morphological Analysis of the Pineal Gland in Pediatric Retinoblastoma Patients Using Magnetic Resonance Imaging Phase II Study Temozolomide for Retinoblastoma Metastatic to the Central Nervous System for Patients From Guatemala Research on the Environment and Children’s Health: Retinoblastoma Intravitreal Injections of Melphalan for Retinoblastoma Efficacy Study of Lucentis in the Treatment of Retinoblastoma Feasibility of Generating Pluripotent Stem Cells From Patients With Familial Retinoblastoma A Study of Intra-Ophthalmic Artery Topotecan Infusion for the Treatment of Retinoblastoma Retinoblastoma Survivor Study: Assessment of General Health and Quality of Life Retinoblastoma Biomarker Study Cancer Biology of Retinoblastoma Intra-arterial Chemotherapy for the Treatment of Intraocular Retinoblastoma Intra-arterial Chemotherapy for Children With Retinoblastoma Molecular Analysis of Retinoblastoma

Brief Title

New Strategies to Detect Cancers in Carriers of Mutations in RB1

Official Title

New Strategies to Detect Cancers in Carriers of Mutations in RB1: Blood Tests Based on Tumor-educated Platelets, or Extracellular Vesicles.

Brief Summary

      Rationale: Individuals with a cancer predisposition due to a mutation in the paradigm tumor
      suppressor gene RB1, have a high risk to develop the childhood cancer retinoblastoma (Rb).
      Biopsies are not possible in Rb, before treatment selection. Heritable Rb patients have also
      a high risk to develop other types of second primary, either childhood or adult, malignancies
      (SPMs), notably sarcomas and melanomas. Remarkably, SPMs are now the leading cause of death
      in heritable-Rb-survivors. Unfortunately, there are no well-developed regular surveillance
      protocols for SPMs in Rb survivors available right now. Recently, new non-invasive cancer
      test have been developed, based on either RNA-sequencing data from platelets (ThromboSeq), or
      on extracellular membrane vesicles (EVs) derived from tumor cells present in blood.

      Objective:

        -  Determine the non-cancerous baseline in adult RB1-mutation carriers
           (heritable-Rb-survivors).

        -  Contribute to the biobanking of blood and cancerous tissues from RB1-mutation carriers
           with SPMs.

        -  The development of blood-based tests, either platelet or EV-based, for the detection of
           (the type of) tumors in RB1-mutation carriers.

      Study design: Cross-sectional multicenter trial.

      Study population:

        -  40 Rb patients (children),

        -  40 controls (children),

        -  153 Rb survivors (adults),

        -  153 controls (adults),

        -  10 Rb survivors with SPM (children/adults).

      Main study parameters/endpoints:

        -  Determine the non-cancerous baseline in adult RB1-mutation carriers
           (heritable-Rb-survivors).

        -  Contribute to the biobanking of blood and cancerous tissues from RB1-mutation carriers
           with SPMs.

      Nature and extent of the burden and risks associated with participation, benefit and group
      relatedness:

      Two blood samples totalling 10ml blood will be collected for every participant. Additionally,
      a short questionnaire has to be filled in concerning their and their family's cancer history.
      Blood draws will be done, when participants are already present in the hospital for other
      appointments, and thus no extra visits are required. For all children, blood will be
      collected through an already present IV, and so no extra venepuncture is required. Children
      have to be included because Rb is a tumor only present in this patient group.
    



Study Type

Observational


Primary Outcome

RNA expression on platelets and allelic DNA balance of EVs in the blood of adult RB1 mutation carriers (Rb-survivors) and retinoblastoma patients (children).

Secondary Outcome

 RNA expression on platelets, allelic DNA balance of EVs in blood and genomic analysis on tumor tissue of RB1-mutation carriers diagnosed with a second primary malignancy.

Condition

Retinoblastoma

Intervention

blood draw

Study Arms / Comparison Groups

 Retinoblastoma patients (children)
Description:  Children that are currently diagnosed with a retinoblastoma. Blood will be collected and a short questionnaire has to be filled by the parent or legal guardian. Samples will be taken together with standard care blood draw, so no extra venepuncture is required.

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Other

Estimated Enrollment

396

Start Date

December 13, 2018

Completion Date

May 31, 2022

Primary Completion Date

May 31, 2022

Eligibility Criteria

        Inclusion Criteria:

        Adult (16 years and older):

          -  Group 1: germline mutation RB1.

          -  Group 2 (control): no germline mutation RB1.

        Pediatric (until 6 years of age):

          -  Group 1: somatic or germline mutation RB1 and retinoblastoma.

          -  Group 2 (control): no mutation RB1.

        Exclusion Criteria:

        Adult (16 years and older):

          -  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 (until 6 years of age):

          -  Group 1: concomitant heritable (inherited) disorder other than caused by monoallelic
             mutation of RB1.

          -  Group 2: cancer or already known cancer predisposition syndrome.
      

Gender

All

Ages

N/A - 99 Years

Accepts Healthy Volunteers

Accepts Healthy Volunteers

Contacts

Armida Fabius, 0031-20-4444981, [email protected]

Location Countries

France

Location Countries

France

Administrative Informations


NCT ID

NCT04164134

Organization ID

129

Secondary IDs

NL8013

Responsible Party

Principal Investigator

Study Sponsor

VU University Medical Center

Collaborators

 University Hospital, Essen

Study Sponsor

Armida Fabius, Principal Investigator, VUMC


Verification Date

April 2021