CompletedNot Applicable

Pyruvate Kinase Deficiency Epidemiological Study (PIECE)

United States75 participantsStarted 2020-01-13

Plain-language 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 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.

Who can participate

Age range

5 Years – 30 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Identification of 100 PKLR positive participants out of a cohort of 16,000 PK deficiency-suspected cases

Timeframe: 24 months

Trial details

NCT IDNCT03866590

SponsorCENTOGENE GmbH Rostock

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2021-05-31

View on ClinicalTrials.gov More Pyruvate Kinase Deficiency trials