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Active Not RecruitingNCT04902833

Acquired Pyruvate Kinase Deficiency In Clonal Myeloid Neoplasms

Characterization Of Acquired Pyruvate Kinase Deficiency In Clonal Myeloid Neoplasms

Status
Active Not Recruiting
Phase
—
Study type
Observational
Enrollment
100 (estimated)
Sponsor
Massachusetts General Hospital · Academic / Other
Sex
All
Age
18 Years
Healthy volunteers
Not accepted

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.

Detailed 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

Conditions

Interventions

TypeNameDescription
PROCEDUREBlood DrawBlood specimen 2-4 teaspoons

Timeline

Start date
2022-02-01
Primary completion
2026-11-30
Completion
2026-12-31
First posted
2021-05-26
Last updated
2026-03-25

Locations

1 site across 1 country: United States

Source: ClinicalTrials.gov record NCT04902833. Inclusion in this directory is not an endorsement.