Neoplasms

Blood and Lymph Conditions

All Conditions

Symptoms and General Pathology

Rare Diseases

Leukemia

Anemia

Leukemia, Myeloid

Leukemia, Myeloid, Acute

Anemia, Refractory, with Excess of Blasts

Chromosome Aberrations

Anemia, Refractory

Leukemia, Promyelocytic, Acute

Neoplasms by Histologic Type

Hematologic Diseases

Syndrome

Preleukemia

Myelodysplastic Syndromes

Bone Marrow Diseases

Myeloid Leukemia

Acute Myeloid Leukemia

Acute Non Lymphoblastic Leukemia

Acute Graft Versus Host Disease

Myelodysplastic Syndrome With Excess Blasts

Acute Promyelocytic Leukemia

Martin Tallman, MD

Guido Marcucci, MD

Alan Burnett, MD

Hartmut Doehner, MD

Bob Lowenberg, MD

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.

RNA from bone marrow samples will be retained.

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

The acceptance criteria based on lower level of the 95% CI of the positive or negative percent agreement for all markers.

Illumina, Inc.

Skyline Diagnostics BV

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization	Link
Accuracy Testing of the Chromosomal Aberration and Gene Mutation Markers of the AMLProfiler	NCT01463410	Acute Myeloid L... Acute Promyeloc... Refractory Anem...		18 Years -	Skyline Diagnostics BV
Accuracy Testing of the Chromosomal Aberration and Gene Mutation Markers of the AMLProfiler	NCT01463410	Acute Myeloid L... Acute Promyeloc... Refractory Anem...		18 Years -	Skyline Diagnostics BV

Spots Global Cancer Trial Database for refractory anemia with excess of blasts (raeb)