ACTIVE_NOT_RECRUITING

Acquired Pyruvate Kinase Deficiency In Clonal Myeloid Neoplasms

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Conditions

Pyruvate Kinase DeficiencyPyruvate Kinase Deficiency AnemiaHereditary Hemolytic AnemiaMyelodysplastic SyndromesMyelodysplastic/Myeloproliferative NeoplasmClonal Myeloid NeoplasmMyeloproliferative NeoplasmAcute Myeloid LeukemiaClonal Cytopenia of Undetermined SignificanceOther Clonal Myeloid NeoplasmUnexplained Coombs-negative Non-immune Hemolytic Anemia

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

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.

Official Title

Characterization Of Acquired Pyruvate Kinase Deficiency In Clonal Myeloid Neoplasms

Quick Facts

Study Start:2022-02-01
Study Completion:2026-12-31
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:ACTIVE_NOT_RECRUITING

Study ID

NCT04902833

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:18 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Cohort 1
  2. * Capable and willing to provide informed consent for participation in the study.
  3. * 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.
  4. * 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.
  5. * Age \>18 years.
  6. * Cohort 2
  7. * Capable and willing to provide informed consent for participation in the study.
  8. * 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.
  9. * 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.
  10. * Age \>18 years.
  1. * Cohort 1
  2. * Receipt of red cell transfusion within 60 days of study enrollment.
  3. * 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.
  4. * Cohort 2
  5. * 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.
  6. * Have a known untreated nutritional anemia or acquired disorder resulting in hemolysis, such as paroxysmal nocturnal hemoglobinuria (PNH).

Contacts and Locations

Principal Investigator

Hanny Al-Samkari, MD
PRINCIPAL_INVESTIGATOR
Massachusetts General Hospital

Study Locations (Sites)

Massachusetts General Hospital
Boston, Massachusetts, 02115
United States

Collaborators and Investigators

Sponsor: Massachusetts General Hospital

  • Hanny Al-Samkari, MD, PRINCIPAL_INVESTIGATOR, Massachusetts General Hospital

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2022-02-01
Study Completion Date2026-12-31

Study Record Updates

Study Start Date2022-02-01
Study Completion Date2026-12-31

Terms related to this study

Keywords Provided by Researchers

  • Pyruvate Kinase Deficiency
  • Pyruvate Kinase Deficiency Anemia
  • Hereditary Hemolytic Anemia
  • Myelodysplastic Syndromes
  • Myelodysplastic/Myeloproliferative Neoplasm
  • Clonal myeloid neoplasm
  • Myeloproliferative Neoplasm
  • Acute Myeloid Leukemia
  • Clonal Cytopenia of Undetermined Significance
  • Other clonal myeloid neoplasm
  • Unexplained Coombs-negative non-immune hemolytic anemia

Additional Relevant MeSH Terms

  • Pyruvate Kinase Deficiency
  • Pyruvate Kinase Deficiency Anemia
  • Hereditary Hemolytic Anemia
  • Myelodysplastic Syndromes
  • Myelodysplastic/Myeloproliferative Neoplasm
  • Clonal Myeloid Neoplasm
  • Myeloproliferative Neoplasm
  • Acute Myeloid Leukemia
  • Clonal Cytopenia of Undetermined Significance
  • Other Clonal Myeloid Neoplasm
  • Unexplained Coombs-negative Non-immune Hemolytic Anemia