Assessing Pyruvate Kinase Deficiency in Blood Disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to evaluate the prevalence of acquired pyruvate kinase deficiency in patients with specific blood disorders through a single blood draw. Participants will be divided into two cohorts: one consisting of anemic patients with myelodysplastic syndromes (MDS) and another with clonal myeloid disorders exhibiting unexplained hemolytic anemia. The study will analyze red cell pyruvate kinase enzyme activity and perform next-generation sequencing on blood samples to gather genomic evidence. Approximately 100 individuals will be recruited for this assessment.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* 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 Criteria:

* 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).

Where it's running

• Massachusetts General Hospital
  Boston, Massachusetts, United States Recruiting

Study contacts

• Principal investigator: Hanny Al-Samkari, MD — Massachusetts General Hospital
• Study coordinator: Hanny Al-Samkari, MD
• Email: hal-samkari@mgh.harvard.edu
• Phone: (617) 643-6214

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.