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About 233 results

ALLMedicine™ Pyruvate Kinase Deficiency Center

Research & Reviews  81 results

Pyruvate Kinase Deficiency Global Longitudinal Registry Substudy of Protocol AG348-C-008
https://clinicaltrials.gov/ct2/show/NCT04995315

May 9th, 2022 - This is a substudy of Study AG348-C-008, an observational, longitudinal, multicenter, global registry that aims to better understand the longitudinal clinical implications of pyruvate kinase deficiency (PK deficiency). The primary purpose of this ...

Extension Study of AG-348 in Adult Participants With Pyruvate Kinase Deficiency Previously Enrolled in AG-348-006 or AG348-C-007
https://clinicaltrials.gov/ct2/show/NCT03853798

May 4th, 2022 - This is a multicenter, open-label, extension study to evaluate the long-term safety, tolerability, and efficacy of treatment with AG-348 in participants who were previously enrolled in Study AG348-C-006 or Study AG348-C-007.

Diagnosis, monitoring, and management of pyruvate kinase deficiency in children.
https://doi.org/10.1002/pbc.29696
Pediatric Blood & Cancer; Johnson S, Grace RF et. al.

Apr 23rd, 2022 - Pyruvate kinase (PK) deficiency is a rare, congenital red blood cell disorder caused by a single gene defect. The spectrum of genotypes, variants, and phenotypes are broad, commonly requiring a multimodal approach including enzyme and genetic test...

Mitapivat versus Placebo for Pyruvate Kinase Deficiency.
https://doi.org/10.1056/NEJMoa2116634
The New England Journal of Medicine; Al-Samkari H, Galactéros F et. al.

Apr 14th, 2022 - Pyruvate kinase deficiency is a rare, hereditary, chronic condition that is associated with hemolytic anemia. In a phase 2 study, mitapivat, an oral, first-in-class activator of erythrocyte pyruvate kinase, increased the hemoglobin level in patien...

Pyruvate Kinase Deficiency
http://emedicine.medscape.com/article/125096-overview

Feb 23rd, 2022 - Practice Essentials Pyruvate kinase deficiency, one of the most common enzymatic defects of the erythrocyte, manifests clinically as a hemolytic anemia that can range from a mildly compensated anemia to severe anemia of childhood. It is caused by ...

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Guidelines  1 results

Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7344868
American Journal of Hematology; Bianchi P, Fermo E et. al.

Oct 26th, 2018 - Pyruvate kinase deficiency (PKD) is the most common enzyme defect of glycolysis and an important cause of hereditary, nonspherocytic hemolytic anemia. The disease has a worldwide geographical distribution but there are no verified data regarding i...

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Clinicaltrials.gov  5 results

Pyruvate Kinase Deficiency Global Longitudinal Registry Substudy of Protocol AG348-C-008
https://clinicaltrials.gov/ct2/show/NCT04995315

May 9th, 2022 - This is a substudy of Study AG348-C-008, an observational, longitudinal, multicenter, global registry that aims to better understand the longitudinal clinical implications of pyruvate kinase deficiency (PK deficiency). The primary purpose of this ...

Extension Study of AG-348 in Adult Participants With Pyruvate Kinase Deficiency Previously Enrolled in AG-348-006 or AG348-C-007
https://clinicaltrials.gov/ct2/show/NCT03853798

May 4th, 2022 - This is a multicenter, open-label, extension study to evaluate the long-term safety, tolerability, and efficacy of treatment with AG-348 in participants who were previously enrolled in Study AG348-C-006 or Study AG348-C-007.

Pyruvate Kinase Deficiency Epidemiological Study (PIECE)
https://clinicaltrials.gov/ct2/show/NCT03866590

Nov 24th, 2020 - 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 ph...

Gall Bladder Status Among Children With Chronic Haemolytic Anemia
https://clinicaltrials.gov/ct2/show/NCT03533322

Jul 31st, 2018 - Gall bladder status among children with chronic haemolytic anemia attending to Assuit University Children Hospital Hemolysis is defined as the premature destruction of red blood cells (RBCs) (a shortened RBC life span). Anemia results when the rat...

A Safety and Tolerability Study of AG-519 in Healthy Subjects
https://clinicaltrials.gov/ct2/show/NCT02630927

Jun 29th, 2017 - The purpose of the study is to investigate a drug called AG-519, which is being developed for the treatment of a disease called pyruvate kinase deficiency (also known as PK deficiency) and other forms of anemia. This study is a 5 part study with P...

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News  6 results

A 2-Month-Old Boy With Yellow Eyes: Osmosis USMLE Study Question of the Week
https://www.medscape.com/viewarticle/892693_2

Oct 30th, 2020 - Pyruvate kinase deficiency is an inherited metabolic disorder of the enzyme pyruvate kinase, which affects the survival of erythrocytes. Both autosomal dominant and recessive inheritance have been observed with the disorder; classically, and more ...

Mitapivat elicits positive response in pyruvate kinase deficiency
https://www.mdedge.com/hematology-oncology/article/207433/anemia/mitapivat-elicits-positive-response-pyruvate-kinase?channel=39313
Caleb Rans

Sep 4th, 2019 - Mitapivat showed positive safety and efficacy outcomes in patients with pyruvate kinase deficiency, according to results from a phase 2 trial. After 24 weeks of treatment, the therapy was associated with a rapid rise in hemoglobin levels in 50% of.

Mitapivat elicits positive response in pyruvate kinase deficiency
https://www.mdedge.com/hematology-oncology/article/207433/anemia/mitapivat-elicits-positive-response-pyruvate-kinase
Caleb Rans

Sep 4th, 2019 - Mitapivat showed positive safety and efficacy outcomes in patients with pyruvate kinase deficiency, according to results from a phase 2 trial. After 24 weeks of treatment, the therapy was associated with a rapid rise in hemoglobin levels in 50% of.

Fast Five Quiz: Anemia
https://reference.medscape.com/viewarticle/909145_2

Feb 20th, 2019 - Glucose-6-phosphate dehydrogenase deficiency and pyruvate kinase deficiency are the two most common enzyme defects that cause hemolytic anemia. Glucose-6-phosphate dehydrogenase deficiency affects the pentose phosphate pathway, and pyruvate kinase...

External Resources and Information Related to Patients’ Experience
http://www.fda.gov/drugs/development-approval-process-drugs/external-resources-and-information-related-patients-experience

  This webpage is intended to facilitate public discussion of patient-focused drug development and evaluation. This webpage provides links to certain publicly available external reports and resources relating to patient experience data. The patien...

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