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The Molecular Biology of Paroxysmal Nocturnal Hemoglobinuria (PNH)

This study has been completed.
National Institutes of Health (NIH)
Information provided by:
University of Utah Identifier:
First received: July 23, 2008
Last updated: August 5, 2011
Last verified: August 2011
This study is designed to better understand the molecular biology of paroxysmal nocturnal hemoglobinuria (PNH) and to determine if prion protein (PrP) functions in long term hematopoietic stem cell renewal.

Hemoglobinuria, Paroxysmal

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: The Molecular Biology of Paroxysmal Nocturnal Hemoglobinuria (PNH)

Resource links provided by NLM:

Further study details as provided by University of Utah:

Primary Outcome Measures:
  • Identify the mutation causing the predominant clones through analysis of extracted DNA/RNA from erythroid colonies [ Time Frame: After sample is obtained ]

Secondary Outcome Measures:
  • Reconfirmation of PrP expression in human granulocytes, hematopoietic progenitors and stem cells [ Time Frame: After sample is obtained ]
  • Analysis of PrP function in human long term hematopoietic stem cells [ Time Frame: After sample is obtained ]

Biospecimen Retention:   Samples With DNA
Whole Blood

Enrollment: 10
Study Start Date: May 2006
Study Completion Date: December 2010
Primary Completion Date: December 2010 (Final data collection date for primary outcome measure)
Affected Population
Subjects suspected of having Paroxysmal Nocturnal Hemoglobinuria (PNH)

Detailed Description:

Paroxysmal nocturnal hemoglobinuria (PNH) is characterized by hemolytic anemia, thrombosis, and variable cytopenia. It can be associated with significant morbidity including acute kidney failure, cerebral infarction, mesenteric infarction, Budd-Chiari syndrome, aplastic anemia, and leukemic transformation. The average survival time from diagnosis is 15 years.

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.


Ages Eligible for Study:   7 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with paroxysmal nocturnal hemoglobinuria (PNH)

Inclusion Criteria:

  1. Subjects suspected of or diagnosed with Paroxysmal Nocturnal Hemoglobinuria (PNH)
  2. Age > 7

Exclusion Criteria:

1. Those not meeting the inclusion criteria

  Contacts and Locations
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Please refer to this study by its identifier: NCT00721864

United States, Utah
University of Utah
Salt Lake City, Utah, United States, 84132
Sponsors and Collaborators
University of Utah
National Institutes of Health (NIH)
Principal Investigator: Josef T Prchal, MD University of Utah
  More Information

Responsible Party: Josef T. Prchal, MD, University of Utah Identifier: NCT00721864     History of Changes
Other Study ID Numbers: 17790
Study First Received: July 23, 2008
Last Updated: August 5, 2011

Keywords provided by University of Utah:
Paroxysmal Nocturnal Hemoglobinuria
PIG-A Mutation
Prion Protein
Hematopoietic stem cells
Clonal disorder

Additional relevant MeSH terms:
Urination Disorders
Urologic Diseases
Hematologic Diseases
Bone Marrow Diseases
Hemoglobinuria, Paroxysmal
Urological Manifestations
Signs and Symptoms
Anemia, Hemolytic
Myelodysplastic Syndromes processed this record on August 23, 2017