Status:
ACTIVE_NOT_RECRUITING
Acquired Pyruvate Kinase Deficiency In Clonal Myeloid Neoplasms
Lead Sponsor:
Massachusetts General Hospital
Collaborating Sponsors:
Agios Pharmaceuticals, Inc.
Conditions:
Pyruvate Kinase Deficiency
Pyruvate Kinase Deficiency Anemia
Eligibility:
All Genders
18+ years
Brief 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. * R...
Eligibility Criteria
Inclusion
- Cohort 1
- Capable and willing to provide informed consent for participation in the study.
- Diagnosis of clonal cytopenia of undetermined significance (CCUS), myelodysplastic syndrome (MDS) or myelodysplastic/myeloproliferative neoplasm (MDS/MPN syndrome) according to 2016 World Health Organization (WHO) classification system.
- Anemia secondary to underlying clonal cytopenia of undetermined significance (CCUS), MDS or MDS/MPN syndrome, defined as a hemoglobin \<11.0 g/dL measured within 30 days of study enrollment. Anemia should not be related to nutritional deficiency (such as iron, cobalamin, folate, or copper deficiencies), peripheral immune or non-immune hemolysis, or renal disease, in the opinion of the investigator.
- Age \>18 years.
- Cohort 2
- Capable and willing to provide informed consent for participation in the study.
- Diagnosis of a clonal myeloid neoplasm, such as MDS, MDS/MPN syndrome, myeloproliferative neoplasm (MPN), acute myeloid leukemia (AML), clonal cytopenia of undetermined significance (CCUS), or other clonal myeloid neoplasm according to 2016 World Health Organization (WHO) classification system.
- A diagnosis of an otherwise unexplained Coombs-negative non-immune hemolytic anemia, according to the clinical judgement of the investigator. Some form of objective laboratory evidence must be present, including one or more of the following: negative direct antiglobulin (Coombs) test, reduced haptoglobin, elevated indirect bilirubin, elevated lactate dehydrogenase, elevated aspartate aminotransferase, or compatible findings on peripheral blood film. Results of all of these tests are not required to satisfy this criterion.
- Age \>18 years.
Exclusion
- Cohort 1
- Receipt of red cell transfusion within 60 days of study enrollment.
- Have a known untreated nutritional anemia or acquired disorder resulting in hemolysis, such as paroxysmal nocturnal hemoglobinuria (PNH). A known hereditary anemia (such as thalassemia trait) is not exclusionary if the patient's baseline hemoglobin has worsened significantly (in the opinion of the investigator) after development and diagnosis of MDS.
- Cohort 2
- Have a known hereditary anemic disorder, such as thalassemia, sickle cell disease, or hereditary enzyme deficiency, with the exception of hereditary X-linked glucose-6-phosphate dehydrogenase deficiency known not to cause chronic baseline hemolysis. Testing for these diagnoses is not required unless deemed clinically necessary.
- Have a known untreated nutritional anemia or acquired disorder resulting in hemolysis, such as paroxysmal nocturnal hemoglobinuria (PNH).
Key Trial Info
Start Date :
February 1 2022
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 31 2026
Estimated Enrollment :
100 Patients enrolled
Trial Details
Trial ID
NCT04902833
Start Date
February 1 2022
End Date
December 31 2026
Last Update
November 18 2025
Active Locations (1)
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1
Massachusetts General Hospital
Boston, Massachusetts, United States, 02115