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Status:

COMPLETED

Pyruvate Kinase Deficiency Epidemiological Study (PIECE)

Lead Sponsor:

CENTOGENE GmbH Rostock

Conditions:

Pyruvate Kinase Deficiency

Eligibility:

All Genders

5-30 years

Brief Summary

Pyruvate kinase deficiency (PKD) is the most common red cell glycolytic enzyme defect causing hereditary non-spherocytic hemolytic anemia, caused by mutations in the PKLR gene. The main goal of this s...

Detailed Description

Pyruvate kinase deficiency is the most common red cell glycolytic enzyme defect causing hereditary non-spherocytic hemolytic anemia, caused by mutations in the PKLR gene. PKLR encodes a pyruvate kinas...

Eligibility Criteria

Inclusion

  • INCLUSION CRITERIA:
  • Informed consent is obtained from the participant or legal representative
  • The participant is equal or older than 5 years or equal or younger than 30 years old
  • The participant exhibits the following symptoms of no obvious etiology:
  • chronic anaemia and/or
  • splenomegaly and/or
  • jaundice and/or
  • cholelithiasis and/or
  • cholecystitis and/or
  • hyperbilirubinemia and/or
  • history of prolonged neonatal jaundice
  • The participant is clinically diagnosed with PK deficiency
  • EXCLUSION CRITERIA:
  • Inability to provide informed consent
  • The participant does not suffer from chronic anaemia and splenomegaly and jaundice and cholelithiasis and cholecystitis and hyperbilirubinemia and history of prolonged neonatal jaundice
  • The etiology of chronic anaemia or splenomegaly or jaundice or cholelithiasis or cholecystitis or kernicterus is clearly determined and is not due to PK deficiency
  • The participant is younger than 5 years or older than 30 years old
  • Previously enrolled in the PIECE Study
  • Participant in custody

Exclusion

    Key Trial Info

    Start Date :

    January 13 2020

    Trial Type :

    OBSERVATIONAL

    Allocation :

    ACTUAL

    End Date :

    May 31 2021

    Estimated Enrollment :

    75 Patients enrolled

    Trial Details

    Trial ID

    NCT03866590

    Start Date

    January 13 2020

    End Date

    May 31 2021

    Last Update

    February 9 2023

    Active Locations (1)

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    Intervent Clinical Research Center

    Pembroke Pines, Florida, United States, 33024