The Molecular Biology of Paroxysmal Nocturnal Hemoglobinuria (PNH)
NCT ID: NCT00721864
Last Updated: 2011-08-09
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
10 participants
OBSERVATIONAL
2006-05-31
2010-12-31
Brief Summary
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Detailed Description
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PNH is an acquired clonal disorder of the hematopoietic stem cell. Two distinct populations of hematopoietic cells exist in each PNH patient: one non-clonal population of normal cells, and one clonal population of PNH cells. The clonal population of PNH cells is identified by a mutation in the PIG-A gene that results in absence of the glycophosphatidylinositol (GPI) anchor of several surface proteins. Consequently, these surface proteins are unable to perform their functions on the cell surface. Deficiency of two of these surface proteins, CD55 (decay accelerating factor) and CD59 (membrane inhibitor of reactive lysis) that prevent complement mediated destruction, have been shown to underlie the clinical presentation of PNH. Identifying the mutation causing the predominant clones may help us better understand the molecular biology of PNH. When this is accomplished, new therapies to control and eventually cure the disease can be designed.
In addition, we propose to determine the function of PrP in human hematopoietic stem cells. PrP is a glycoprotein attached to the cell membrane by a glycosylphosphatidylinositol (GPI) anchor. In PNH, a disorder whose pathogenesis lies in the absence of GPI anchors, PrP expression is reduced in monocytes and granulocytes from the PNH clone.
Conditions
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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Affected Population
Subjects suspected of having Paroxysmal Nocturnal Hemoglobinuria (PNH)
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
2. Age \> 7
7 Years
ALL
No
Sponsors
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National Institutes of Health (NIH)
NIH
University of Utah
OTHER
Responsible Party
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University of Utah
Principal Investigators
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Josef T Prchal, MD
Role: PRINCIPAL_INVESTIGATOR
University of Utah
Locations
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University of Utah
Salt Lake City, Utah, United States
Countries
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References
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Durig J, Giese A, Schmucker U, Kretzschmar HA, Duhrsen U. Decreased prion protein expression in human peripheral blood leucocytes from patients with paroxysmal nocturnal haemoglobinuria. Br J Haematol. 2001 Mar;112(3):658-62. doi: 10.1046/j.1365-2141.2001.02602.x.
Risitano AM, Holada K, Chen G, Simak J, Vostal JG, Young NS, Maciejewski JP. CD34+ cells from paroxysmal nocturnal hemoglobinuria (PNH) patients are deficient in surface expression of cellular prion protein (PrPc). Exp Hematol. 2003 Jan;31(1):65-72. doi: 10.1016/s0301-472x(02)01011-1.
Zhang CC, Steele AD, Lindquist S, Lodish HF. Prion protein is expressed on long-term repopulating hematopoietic stem cells and is important for their self-renewal. Proc Natl Acad Sci U S A. 2006 Feb 14;103(7):2184-9. doi: 10.1073/pnas.0510577103. Epub 2006 Feb 7.
Other Identifiers
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R01HL5077-12
Identifier Type: -
Identifier Source: secondary_id
17790
Identifier Type: -
Identifier Source: org_study_id
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