Clinical trial NCT01463410: Accuracy Testing of the Chromosomal Aberration and Gene Mutation Markers of the AMLProfiler
Official title: Accuracy Testing of the Chromosomal Aberration and Gene Mutation Markers of the AMLProfiler
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Acute Myeloid Leukemia (AML)
Acute Promyelocytic Leukemia (APL)
Refractory Anemia With Excess of Blasts (RAEB)
Lead sponsor: Skyline Diagnostics BV
Sponsor class: INDUSTRY
Collaborators: name: Illumina, Inc.
First posted: 2011-11-01
Enrollment: 264
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
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.

Brief summary: 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.


Eligibility criteria: 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

Primary outcomes:
measure: Acceptance Criteria
timeFrame: Sample taken at initial visit with no follow up (Day 1)
Secondary outcomes:
Other outcomes:
Locations:
city: New York
country: United States
facility: Memorial Sloan Kettering Cancer Center
state: New York
city: Columbus
country: United States
facility: James Cancer Hospital
state: Ohio
city: Ulm
country: Germany
facility: University Hospital Ulm
city: Rotterdam
country: Netherlands
facility: Erasmus Medical Center
city: Cardiff
country: United Kingdom
facility: Cardiff University
state: Heath Park
Study officials:
affiliation: Memorial Sloan Kettering Cancer Center
name: Martin Tallman, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: James Cancer Hospital
name: Guido Marcucci, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Cardiff University- School of Medicine
name: Alan Burnett, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: University Hospital Ulm
name: Hartmut Doehner, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Erasmus Medical Center
name: Bob Lowenberg, MD
role: PRINCIPAL_INVESTIGATOR
References: