Lentiviral-mediated Gene Therapy for Adults and Children with Severe Pyruvate Kinase Deficiency: Results from an Ongoing Global Phase 1 Study

Shah, Ami J.; Lorenzo, José Luis López; Sevilla, Julián; Navarro, Susana; Llanos, Lucía; Gaisse, Begoña Pérez de Camino; Sánchez, Silvia Barrientos; Zubicaray, Josune; Glader, Bert; Chien, May; Quintana-Bustamante, Óscar; Zeini, Miriam; Choi, Grace; Nicoletti, Eileen; Rao, Gayatri R.; Roncarolo, Maria Grazia; Bueren, Juan A.; Schwartz, Jonathan D.; Segovia, José C.

doi:10.1182/blood-2022-170948

Cited by 4 publications

(1 citation statement)

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“…Preclinical studies using lentiviral vectors in mouse models have demonstrated significant phenotypic correction with a reliable safety profile [7]. Additionally, a global phase 1 study using hematopoietic stem and progenitor cells transduced with lentiviral vectors has demonstrated normalization of hemoglobin levels and an enhanced quality of life [8]. These studies offer new perspectives on the management of hemolytic anemia with PKD and advance our understanding of the unexplored territories of gene therapy.…”

Section: Discussionmentioning

confidence: 98%

Mitapivat-Associated Rib Fracture in a Hemolytic Anemia Patient

Abouelkheer,

Ladel,

Boxer

et al. 2024

Cureus

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Hereditary hemolytic anemia associated with pyruvate kinase deficiency is a rare hematological disorder that affects the glycolic pathway within red blood cells. The standard of care includes splenectomy, transfusions, and hematopoietic stem cell transplantation. However, these treatments can lead to common iatrogenic side effects such as infections, surgical complications, and iron overload. The novel drug therapy Mitapivat has shown promising results in terms of both efficacy and safety, but it can cause rare side effects such as fractures. In this report, we present the case of a 75-year-old female with hereditary hemolytic anemia caused by pyruvate kinase deficiency who suffered rib and vertebral body fractures after the initiation of Mitapivat. Screening for key risk factors of bone mineral disease can help identify patients who are at higher risk of developing fractures before starting therapy. In the future, gene therapy may provide an alternative treatment option for patients with hereditary hemolytic anemia with metabolic bone disorders.

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Section: Discussionmentioning

confidence: 98%