Pyruvate Kinase Deficiency Epidemiological Study (PIECE)

Pyruvate Kinase Deficiency Epidemiological Study. An International, Multicentre, Epidemiological Observational Study

Sponsors

Lead Sponsor: Centogene AG Rostock

Source Centogene AG Rostock
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.

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 kinase that catalyzes the transphosphorylation of phosphoenolpyruvate into pyruvate and ATP. The current treatment options are red cell transfusions, chelation and splenectomy.

This is an international, multicentre, epidemiological and observational study.

The patients fulfilling the inclusion criteria will be enrolled into the Study and genetically tested for PKLR mutations via Next generation sequencing (NGS). Any mutation being detected by NGS, will be confirmed by Sanger sequencing.

PKLR-positive samples (homozygous or compound heterozygous for pathogenic variants) will be analysed for the identification of potential biomarkers via liquid chromatography multiple reaction-monitoring mass spectrometry (LC/MRM-MS) and compared to a merged control samples in order establish a PKD specific biomarker.

Overall Status Recruiting
Start Date January 13, 2020
Completion Date April 1, 2022
Primary Completion Date January 13, 2022
Study Type Observational
Primary Outcome
Measure Time Frame
Identification of 100 PKLR positive participants out of a cohort of 16,000 PK deficiency-suspected cases 24 months
Secondary Outcome
Measure Time Frame
Biomarker/s establishment in PKLR-positive cohort 24 months
Enrollment 16000
Condition
Eligibility

Sampling Method: Non-Probability Sample

Criteria:

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

Gender: All

Minimum Age: 5 Years

Maximum Age: 30 Years

Healthy Volunteers: No

Overall Official
Last Name Role Affiliation
Arndt Rolfs, Prof.Dr. Principal Investigator Centogene AG Rostock
Overall Contact

Last Name: Volha Skrahina, PhD

Phone: +49 (0)38180113594

Phone Ext.: 594

Email: [email protected]

Location
Facility: Status: Contact: Investigator: Intervent Clinical Research Center Diego Montes, MD 954-507-6627 [email protected] Diego Montes, MD Principal Investigator
Location Countries

United States

Verification Date

February 2020

Responsible Party

Type: Sponsor

Keywords
Has Expanded Access No
Condition Browse
Arm Group

Label: Patients being at risk for Pyruvate Kinase Deficiency

Description: 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

Acronym PIECE
Patient Data No
Study Design Info

Observational Model: Cohort

Time Perspective: Cross-Sectional

Source: ClinicalTrials.gov