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Molecular Disease Profile of Hematological Malignancies (RELab1)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02459743
Recruitment Status : Unknown
Verified June 2015 by Matteo Giovanni Della Porta, University of Pavia.
Recruitment status was:  Recruiting
First Posted : June 2, 2015
Last Update Posted : June 8, 2015
Sponsor:
Collaborators:
IRCCS Policlinico S. Matteo
Fondazione Salvatore Maugeri
Information provided by (Responsible Party):
Matteo Giovanni Della Porta, University of Pavia

Brief Summary:
In this prospective multicentric study, the University of Pavia together with the Fondazione IRCCS Policlinico San Matteo, Pavia and the IRCCS Fondazione Maugeri, Pavia, Italy will provide a systematic analysis of gene mutations in hematological malignancies by using NGS techniques. Patients with a conclusive diagnosis of haematological malignancies according to WHO criteria referred to the Rete Ematologica Lombarda clinical network (REL, www.rel-lombardia.net) will be enrolled. The investigators will analyse genomic DNA extracted from hematopoietic cells at different time points of patient disease. The study contemplates the use of molecular platforms (Next Generation Sequencing, NGS) aimed at the identification of recurrent mutations in myeloid and lymphoid neoplasms, respectively. Screening of gene mutations by NGS will be prospectively implemented in the context of REL clinical network. Patient samples will be analyzed at diagnosis and sequentially during the course of the disease at specific timepoints. The researchers will analyze the correlations between somatic mutations, specific clinical phenotypes (according to the WHO classification) and disease evolution. This will allow to: 1) identify new recurrent genetic mutations involved in the molecular pathogenesis of hematological malignancies; 2) define the role of mutated genes, distinguishing between genes which induce a clonal proliferation of hematopoietic stem cells, and genes which determine the clinical phenotype of the disease; 3) identify mutations which are responsible for disease evolution; 4) define the diagnostic/prognostic role of the identified mutations, and update the current disease classifications and prognostic scores by including molecular parameters. A systematic biobanking of biological material will be provided.

Condition or disease
Hematological Malignancies

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 2 Years
Official Title: Molecular Disease Profile of Haematological Malignancies. A Prospective Registry Study by the Rete Ematologica Lombarda (REL) Clinical Network
Study Start Date : February 2015
Estimated Primary Completion Date : January 2017
Estimated Study Completion Date : December 2018

Resource links provided by the National Library of Medicine


Group/Cohort
Patients with hematological malignancies
Patients with a conclusive diagnosis of haematological malignancies according to WHO criteria referred to the Rete Ematologica Lombarda (REL) clinical network will be enrolled. The investigators will analyse genomic DNA extracted from hematopoietic cells at different time points of patient disease. The study contemplates the use of two optimized molecular platforms aimed at the identification of recurrent mutations in myeloid and lymphoid neoplasms, respectively. Screening of gene mutations by NGS will be prospectively implemented in the context of REL clinical network. Patient samples will be analyzed at diagnosis and sequentially during the course of the disease at specific timepoints.



Primary Outcome Measures :
  1. Cumulative incidence of gene mutations in principal clone and subclones in each hematological malignancy [ Time Frame: 3 years ]

Secondary Outcome Measures :
  1. Genotype-phenotype correlations between clinical characteristics and mutational status [ Time Frame: 3 years ]
  2. Overall survival and disease-free survival according to clinical and biological risk factors at diagnosis and during disease evolution [ Time Frame: 3 years ]

Biospecimen Retention:   Samples With DNA
We developed a protocol to couple high-throughput sample handling with the power of massively parallel sequencing to sequence all coding exons of a target list of candidate genes in the cancer cells (i.e. peripheral blood granulocytes for myeloid malignancies and mononucleated cells or CD19+ cells for limphoproliferative neoplasms), and normal control cells (i.e. T lymphocytes for myeloid malignancies and buccal cells [swab] for lymphoproliferative diseases), from a large, well-characterized prospective cohort of patients with hematological malignancies


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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients with a conclusive diagnosis of haematological malignancies according to WHO criteria referred to the Rete Ematologica Lombarda (REL) clinical network will be prospectively enrolled. The investigators will analyse genomic DNA extracted from hematopoietic cells at different time points of patient disease. The study contemplates the use of two optimized molecular platforms aimed at the identification of recurrent mutations in myeloid and lymphoid neoplasms, respectively.
Criteria

Inclusion Criteria:

  • Conclusive diagnosis of myeloid or lymphoid neoplasm according to 2008 WHO criteria
  • age ≥ 18 years. There is no upper age limit
  • signed written informed consent

Exclusion criteria:

  • severe neurological or psychiatric disorder interfering with ability to give an informed consent
  • no written informed consent

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02459743


Contacts
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Contact: Benedetta - Landini +39 0382 503084 b.landini@smatteo.pv.it
Contact: Elena - Fugazza, Biologist +39 0382 503084 e.fugazza@smatteo.pv.it

Locations
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Italy
Department of Hematology Oncology, IRCCS Policlinico San Matteo & University of Pavia, Italy Recruiting
Pavia, Italy, 27100
Contact: Benedetta - Landini    +39 0382 503084    b.landini@smatteo.pv.it   
Contact: Elena - Fugazza, Biologist    +39 0382 503084    e.fugazza@smatteo.pv.it   
Sponsors and Collaborators
University of Pavia
IRCCS Policlinico S. Matteo
Fondazione Salvatore Maugeri
Investigators
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Principal Investigator: Matteo G Della Porrta, MD University of Pavia (Italy)
Additional Information:

Publications:
Papaemmanuil E, Cazzola M, Boultwood J, Malcovati L, Vyas P, Bowen D, Pellagatti A, Wainscoat JS, Hellstrom-Lindberg E, Gambacorti-Passerini C, Godfrey AL, Rapado I, Cvejic A, Rance R, McGee C, Ellis P, Mudie LJ, Stephens PJ, McLaren S, Massie CE, Tarpey PS, Varela I, Nik-Zainal S, Davies HR, Shlien A, Jones D, Raine K, Hinton J, Butler AP, Teague JW, Baxter EJ, Score J, Galli A, Della Porta MG, Travaglino E, Groves M, Tauro S, Munshi NC, Anderson KC, El-Naggar A, Fischer A, Mustonen V, Warren AJ, Cross NC, Green AR, Futreal PA, Stratton MR, Campbell PJ; Chronic Myeloid Disorders Working Group of the International Cancer Genome Consortium. Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med. 2011 Oct 13;365(15):1384-95. doi: 10.1056/NEJMoa1103283. Epub 2011 Sep 26.

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Responsible Party: Matteo Giovanni Della Porta, MD, University of Pavia
ClinicalTrials.gov Identifier: NCT02459743    
Other Study ID Numbers: PDS20140005575
First Posted: June 2, 2015    Key Record Dates
Last Update Posted: June 8, 2015
Last Verified: June 2015
Keywords provided by Matteo Giovanni Della Porta, University of Pavia:
Hematological malignancies
Next Generation Sequencing
Genotype-phenotype correlations
Prognosis
Diagnosis
Additional relevant MeSH terms:
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Neoplasms
Hematologic Neoplasms
Neoplasms by Site
Hematologic Diseases