Pyruvate Kinase Deficiency Clinical Trial
Official title:
Pyruvate Kinase Deficiency Epidemiological Study. An International, Multicentre, Epidemiological Observational Study
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.
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. ;
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Active, not recruiting |
NCT03853798 -
Extension Study of AG-348 in Adult Participants With Pyruvate Kinase Deficiency Previously Enrolled in AG-348-006 or AG348-C-007
|
Phase 3 | |
| Completed |
NCT03559699 -
A Study Evaluating the Efficacy and Safety of AG-348 in Regularly Transfused Adult Participants With Pyruvate Kinase Deficiency (PKD)
|
Phase 3 | |
| Active, not recruiting |
NCT02476916 -
A Study of AG-348 in Adult Participants With Pyruvate Kinase (PK) Deficiency
|
Phase 2 | |
| Active, not recruiting |
NCT04105166 -
Gene Therapy for Pyruvate Kinase Deficiency (PKD)
|
Phase 1 | |
| Enrolling by invitation |
NCT05777993 -
A Study to Provide Continued Access to Mitapivat for Participants Who Previously Completed an Agios-Sponsored Mitapivat Study
|
Phase 4 | |
| Terminated |
NCT04964323 -
Pyruvate Kinase (PK) Deficiency Global Longitudinal Registry: Patient-Reported Outcomes (PRO)
|
||
| Completed |
NCT04995315 -
Pyruvate Kinase Deficiency Global Longitudinal Registry Substudy of Protocol AG348-C-008
|
||
| Recruiting |
NCT04902833 -
Acquired Pyruvate Kinase Deficiency In Clonal Myeloid Neoplasms
|
||
| Completed |
NCT02053480 -
Pyruvate Kinase Deficiency Natural History Study
|
||
| Completed |
NCT03548220 -
A Study to Evaluate Efficacy and Safety of AG-348 in Not Regularly Transfused Adult Participants With Pyruvate Kinase Deficiency (PKD)
|
Phase 3 | |
| Not yet recruiting |
NCT06422351 -
Clinical Trial to Evaluate the Efficacy of Gene Therapy for Pyruvate Kinase Deficiency
|
Phase 2 | |
| Recruiting |
NCT03481738 -
Pyruvate Kinase Deficiency Global Longitudinal Registry
|