Pyruvate Kinase Deficiency Epidemiological Study (PIECE)

Completed

Conditions studied: Pyruvate Kinase Deficiency

In brief

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 study is the diagnosis of pyruvate kinase deficiency in patients who exhibit chronic anaemia and/or splenomegaly and/or judiance and/or hyperbilirubinemia and/or history of prolonged neonatal jaundice and/ or cholelithiasis of undetermined aetiology.

Key facts

Study ID

NCT03866590

Run by

CENTOGENE GmbH Rostock

People needed

75

Starts

2020-01-13

Expected to finish

2021-05-31

Last updated by the study team

2023-02-09

Who can join

Age: 5 and older, up to 30. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• 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

Where it is running

• Intervent Clinical Research Center — Pembroke Pines, Florida, United States

Full record on ClinicalTrials.gov

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