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Accuracy Testing of the Chromosomal Aberration and Gene Mutation Markers of the AMLProfiler

This study has been terminated.
(The required number of banked samples could not be met due to limited availability. There is no realistic possibility to complete the study succesfully.)
Illumina, Inc.
Information provided by (Responsible Party):
Skyline Diagnostics BV Identifier:
First received: October 28, 2011
Last updated: May 27, 2013
Last verified: May 2013

This clinical study will demonstrate the accuracy of the chromosomal aberration and gene mutation markers of the AMLProfiler molecular diagnostic assay and generate clinical performance data to support a Pre-Market Approval (PMA) submission to the Food and Drug Administration for in vitro diagnostic use within the United States of America.

The objective is to demonstrate the positive and negative percent agreement of each marker by comparing AMLProfiler results from multiple clinical participating sites with data generated using a laboratory developed bi-directional sequencing method generated at the molecular diagnostic reference lab.

The AMLProfiler assay is a qualitative in vitro diagnostic test for the detection of AML or APL specific chromosomal aberrations (specific recurrent translocations and inversions), as well as expression of specific genetic markers in RNA extracted from bone marrow aspirates of patients with Acute Myeloid Leukemia.

Acute Myeloid Leukemia (AML)
Acute Promyelocytic Leukemia (APL)
Refractory Anemia With Excess of Blasts (RAEB)

Study Type: Observational
Study Design: Observational Model: Case-Only
Official Title: Accuracy Testing of the Chromosomal Aberration and Gene Mutation Markers of the AMLProfiler

Resource links provided by NLM:

Further study details as provided by Skyline Diagnostics BV:

Primary Outcome Measures:
  • Acceptance Criteria [ Time Frame: Sample taken at initial visit with no follow up (Day 1) ]
    The acceptance criteria based on lower level of the 95% CI of the positive or negative percent agreement for all markers.

Biospecimen Retention:   Samples With DNA
RNA from bone marrow samples will be retained.

Enrollment: 264
Study Start Date: October 2011
Study Completion Date: March 2013
Primary Completion Date: February 2013 (Final data collection date for primary outcome measure)

Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Bone marrow samples will be used in the study only from AML,APL or RAEB subjects. Written informed consent by subjects will be obtained for use of their bone marrow samples in this study. Each site will follow their own bone marrow aspiration procedure.

Inclusion Criteria:

  1. Subjects with a cytopathologically confirmed diagnosis of AML subjects with refractory anemia with excess of blasts (RAEB) according to the WHO 2008 classification
  2. ≥ 18 years
  3. Written informed consent

Exclusion Criteria:

  1. Subjects without a cytopathologically confirmed diagnosis of AML subjects with refractory anemia with excess of blasts (RAEB) according to the WHO 2008 classification
  2. < 18 years
  3. Without written informed consent
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01463410

United States, New York
Memorial Sloan Kettering Cancer Center
New York, New York, United States, 10065
United States, Ohio
James Cancer Hospital
Columbus, Ohio, United States, 43210
University Hospital Ulm
Ulm, Germany, 89081
Erasmus Medical Center
Rotterdam, Netherlands, 3015 AA
United Kingdom
Cardiff University
Cardiff, Heath Park, United Kingdom, CF144XN
Sponsors and Collaborators
Skyline Diagnostics BV
Illumina, Inc.
Principal Investigator: Martin Tallman, MD Memorial Sloan Kettering Cancer Center
Principal Investigator: Guido Marcucci, MD James Cancer Hospital
Principal Investigator: Alan Burnett, MD Cardiff University- School of Medicine
Principal Investigator: Hartmut Doehner, MD University Hospital Ulm
Principal Investigator: Bob Lowenberg, MD Erasmus Medical Center
  More Information

Additional Information:
Myraqa  This link exits the site

Responsible Party: Skyline Diagnostics BV Identifier: NCT01463410     History of Changes
Other Study ID Numbers: PROT-015
Study First Received: October 28, 2011
Last Updated: May 27, 2013

Additional relevant MeSH terms:
Leukemia, Myeloid, Acute
Leukemia, Promyelocytic, Acute
Anemia, Refractory
Chromosome Aberrations
Chromosome Disorders
Anemia, Refractory, with Excess of Blasts
Neoplasms by Histologic Type
Leukemia, Myeloid
Hematologic Diseases
Myelodysplastic Syndromes
Bone Marrow Diseases
Pathologic Processes
Congenital Abnormalities
Genetic Diseases, Inborn processed this record on April 26, 2017