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Clinical Trial Summary

This cross-sectional prevalence assessment study involves a single blood draw in specific patient populations to assess for enzymatic and genomic evidence for acquired pyruvate kinase deficiency.


Clinical Trial Description

This cross-sectional prevalence assessment study involves a single blood draw in specific patient populations to assess for enzymatic and genomic evidence for acquired pyruvate kinase deficiency. - Red cell pyruvate kinase enzyme activity and next-generation sequencing (NGS) hereditary hemolytic anemia panels will be performed on samples from all recruited participants. - The study will recruit patients to two separate cohorts. - Cohort 1 will recruit approximately 75 anemic (Hgb <11.0 g/dL) MDS participants without overt clinical evidence of hemolysis. - Cohort 2 will recruit approximately 25 participants with clonal myeloid disorders of any type with evidence of non-immune, otherwise unexplained hemolytic anemia - Participation in the study involves a single blood draw. Basic information about the participant's blood disorder will also be collected. It is expected that about 100 people will take part in this research study ;


Study Design


Related Conditions & MeSH terms


NCT number NCT04902833
Study type Observational
Source Massachusetts General Hospital
Contact Hanny Al-Samkari, MD
Phone (617) 643-6214
Email hal-samkari@mgh.harvard.edu
Status Recruiting
Phase
Start date February 1, 2022
Completion date December 31, 2025

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