The Role of Erythropoietin in Myelodysplastic Syndrome

Utah System of Higher Education (USHE)

Status: Completed

Conditions: Myelodysplastic Syndrome

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT00723112

20716

DK007115-31

Details and patient eligibility

About

The purpose of the study is to elucidate the causative molecular events responsible for the abnormal erythropoiesis in MDS.

Full description

Myelodysplastic syndromes are a heterogeneous group of disorders characterized by clonal expansion of hematopoietic stem cells and ineffective hematopoiesis. Although all 3 cell lineages in myeloid hematopoiesis can be involved, the erythroid dysplasia and ineffective erythropoiesis of MDS are usually the most severe, and often precede the development of other bone marrow lineage defects.

In normal erythropoiesis, erythroid progenitors differentiate and proliferate in response to stimulation by erythropoietin (Epo). Epo binds to its receptor, EpoR, constitutively expressed at the surface of committed erythroid progenitors and induces homodimerization. This study is designed to evaluate the EpoR cDNA sequence and its level of expression in the clonal erythroid progenitors of MDS patients (in cells stratified for the same degree of erythroid maturation) to determine whether mutations in the EpoR may be responsible for an aberrant Epo signal transduction in MDS. As well as analyze intrinsic erythroid Epo expression to determine whether it differs between normal controls and patients with MDS and perform a microarray analysis of genes associated with Epo signal transduction to determine if MDS patients have abnormal expression of signal transduction proteins.

Enrollment: 8 patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Adult subjects greater than 18 years of age
• Diagnosis of MDS based on the French-American-British classification system (including secondary causes of MDS)

Exclusion criteria

• Subjects not meeting the criteria listed above

Trial design

8 participants in 2 patient groups

Affected Group

Description:

Adult subjects with the diagnosis of MDS based on the French-American-British classification system.

Healthy Controls

Description:

Control subjects will be selected using frequency matching on gender and age by decade. That is for each MDS patient a healthy volunteer of the same gender and decade (50-59, 60-69, 70-79, etc) will be selected