The Molecular Biology of Paroxysmal Nocturnal Hemoglobinuria (PNH)

NCT00721864 | Completed

• 2 other identifiers: 17790R01HL5077-12
• Study Type: observational
• Target: 10
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Hemoglobinuria, Paroxysmal

Keywords

Paroxysmal Nocturnal Hemoglobinuria; PIG-A Mutation; Prion Protein; Hematopoietic stem cells; Clonal disorder

Outcome Measures

Primary Outcomes (1)

• Identify the mutation causing the predominant clones through analysis of extracted DNA/RNA from erythroid colonies

  After sample is obtained

Secondary Outcomes (2)

• Reconfirmation of PrP expression in human granulocytes, hematopoietic progenitors and stem cells

  After sample is obtained

• Analysis of PrP function in human long term hematopoietic stem cells

  After sample is obtained

Study Arms (1)

Affected Population

Subjects suspected of having Paroxysmal Nocturnal Hemoglobinuria (PNH)

Eligibility Criteria

• Age: 7 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with paroxysmal nocturnal hemoglobinuria (PNH)

You may qualify if:

• Subjects suspected of or diagnosed with Paroxysmal Nocturnal Hemoglobinuria (PNH)
• Age \> 7

Sponsors & Collaborators

• University of Utah: lead
• National Institutes of Health (NIH): collaborator

Study Sites (1)

University of Utah

Salt Lake City, Utah, 84132, United States

Location

Related Publications (3)

• 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.

  PMID: 11260069 BACKGROUND

• 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.

  PMID: 12543108 BACKGROUND

• 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.

  PMID: 16467153 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Whole Blood

MeSH Terms

Conditions

Hemoglobinuria, Paroxysmal; Insomnia, Fatal Familial

Condition Hierarchy (Ancestors)

Anemia, Hemolytic; Anemia; Hematologic Diseases; Hemic and Lymphatic Diseases; Myelodysplastic Syndromes; Bone Marrow Diseases; Prion Diseases; Central Nervous System Infections; Infections; Central Nervous System Diseases; Nervous System Diseases; Neurodegenerative Diseases; Sleep Initiation and Maintenance Disorders; Sleep Disorders, Intrinsic; Dyssomnias; Sleep Wake Disorders

Study Officials

• Josef T Prchal, MD

  University of Utah

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER

Study Record Dates

• First Submitted: July 23, 2008
• First Posted: July 25, 2008
• Study Start: May 1, 2006
• Primary Completion: December 1, 2010
• Study Completion: December 1, 2010
• Last Updated: August 9, 2011

Record last verified: 2011-08

Locations

US (1)