Acquired Pyruvate Kinase Deficiency In Clonal Myeloid Neoplasms

Acute Myeloid Leukemia Clinical Trial

Official title: Characterization Of Acquired Pyruvate Kinase Deficiency In Clonal Myeloid Neoplasms

Status Recruiting

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 ;

Related Conditions & MeSH terms

• Acute Myeloid Leukemia
• Anemia
• Anemia, Hemolytic
• Anemia, Hemolytic, Congenital
• Clonal Cytopenia of Undetermined Significance
• Cytopenia
• Hemolysis
• Leukemia, Myeloid
• Leukemia, Myeloid, Acute
• Myelodysplastic Syndromes
• Myelodysplastic-Myeloproliferative Diseases
• Myelodysplastic/Myeloproliferative Neoplasm
• Myeloproliferative Disorders
• Myeloproliferative Neoplasm
• Neoplasms
• Preleukemia
• Pyruvate Kinase Deficiency

• 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
• Start date: February 1, 2022
• Completion date: December 31, 2025