Pyruvate Kinase Deficiency Epidemiological Study (PIECE)

NCT03866590 | Completed DMC

• 1 other identifier: PIECE 01-2019
• Study Type: observational
• Target: 75
• Locations: 1 country
• Sites: 1

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 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.

Conditions

Pyruvate Kinase Deficiency

Keywords

Pyruvate Kinase Deficiency; Chronic anaemia; Biomarker

Outcome Measures

Primary Outcomes (1)

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

  Number of identified pyruvate kinase deficiency patients, which showing a mutation/pathogenic variant in their PKLR gene, within a cohort of 16.000 suspected cases via using respective patients' dry blood sample for confirmatory testing (next generation sequencing of PKLR gene)

  24 months

Secondary Outcomes (1)

• Biomarker/s establishment in PKLR-positive cohort

  24 months

Study Arms (1)

Patients being at risk for Pyruvate Kinase Deficiency

Patients, older than 5 years and younger than 30 years old, being at risk for Pyruvate Kinase Deficiency, due to chronic anaemia or cholelithiasis or cholecystitis of undetermined aetiology

Eligibility Criteria

• Age: 5 Years - 30 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Patients older than 5 years and younger than 30 years old, with high suspicion of PK deficiency, due to chronic anaemia or cholelithiasis or cholecystitis of undetermined aetiology

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

Sponsors & Collaborators

• CENTOGENE GmbH Rostock: lead

Study Sites (1)

Intervent Clinical Research Center

Pembroke Pines, Florida, 33024, United States

Location

Related Publications (3)

• Beutler E, Gelbart T. Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population. Blood. 2000 Jun 1;95(11):3585-8.

  PMID: 10828047 BACKGROUND

• Grace RF, Bianchi P, van Beers EJ, Eber SW, Glader B, Yaish HM, Despotovic JM, Rothman JA, Sharma M, McNaull MM, Fermo E, Lezon-Geyda K, Morton DH, Neufeld EJ, Chonat S, Kollmar N, Knoll CM, Kuo K, Kwiatkowski JL, Pospisilova D, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Kunz J, Sheth S, Rose MJ, Bradeen HA, Neu N, Guo D, Al-Sayegh H, London WB, Gallagher PG, Zanella A, Barcellini W. Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. Blood. 2018 May 17;131(20):2183-2192. doi: 10.1182/blood-2017-10-810796. Epub 2018 Mar 16.

  PMID: 29549173 BACKGROUND

• Carey PJ, Chandler J, Hendrick A, Reid MM, Saunders PW, Tinegate H, Taylor PR, West N. Prevalence of pyruvate kinase deficiency in northern European population in the north of England. Northern Region Haematologists Group. Blood. 2000 Dec 1;96(12):4005-6. No abstract available.

  PMID: 11186276 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample applied on the Dry Blood Spot (DBS) Filtercard (Centocard®)

MeSH Terms

Conditions

Pyruvate Kinase Deficiency of Red Cells

Study Officials

• Peter Bauer, M.D.

  CENTOGENE GmbH

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 1, 2019
• First Posted: March 7, 2019
• Study Start: January 13, 2020
• Primary Completion: May 31, 2021
• Study Completion: May 31, 2021
• Last Updated: February 9, 2023

Record last verified: 2023-02

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)