Selecting patients with sickle cell disease for gene addition or gene editing-based therapeutic approaches: Report on behalf of a joint EHA Specialized Working Group and EBMT Hemoglobinopathies Working Party consensus conference

被引：0

作者：

de Franceschi, Lucia ^{[1
,2
]}

Locatelli, Franco ^{[3
]}

Rees, David ^{[4
,5
]}

Chabannon, Christian ^{[6
,7
]}

Dalle, Jean-Hugues ^{[8
]}

Rivella, Stefano ^{[9
,10
,11
]}

Iolascon, Achille ^{[12
,13
]}

Lobitz, Stephan ^{[14
]}

Abboud, Miguel R. ^{[15
]}

de la Fuente, Josu ^{[16
,17
]}

Flevari, Pagona ^{[18
]}

Angelucci, Emanuele ^{[19
]}

de Montalembert, Mariane ^{[20
,21
]}

机构：

[1] Univ Verona, Dept Engn Innovat Med, Verona, Italy

[2] Azienda Osped Univ Integrata Verona, Verona, Italy

[3] Sacred Heart Catholic Univ, Dept Nursing, Rome, Italy

[4] Kings Coll London, Fac Life Sci Med, Sch Canc & Pharmaceut Sci, London, England

[5] Kings Coll Hosp London, Dept Haematol Med, London, England

[6] Inst Paoli Calmettes, Comprehens Canc Ctr, Marseille, France

[7] Aix Marseille Univ, AP HM, Module Biotherapies Ctr Invest Clin Marseille, INSERM,IPC,CBT 1409, Marseille, France

[8] Nord Univ Paris Cite, Robert Debre Acad Hosp, GHU AP HP, Pediat Hematol & Immunol Dept, Paris, France

[9] Childrens Hosp Philadelphia, Dept Pediat, Hematol, Philadelphia, PA USA

[10] Univ Penn, Penn Inst RNA Innovat, Philadelphia, PA USA

[11] Univ Penn, Penn Inst Regenerat Med IRM, Philadelphia, PA USA

[12] Univ Napoli Federico II, Dipartimento Med Mol & Biotecnol Med, Naples, Italy

[13] CEINGE Biotecnol Avanzate, Naples, Italy

[14] Gemeinschaftsklinikum Mittelrhein gGmbH, Pediat Hematol & Oncol, Koblenz, Germany

[15] Amer Univ Beirut, Dept Pediat & Adolescent Med, Beirut, Lebanon

[16] Imperial Coll London, Ctr Haematol, Dept Immunol & Inflammat, London, England

[17] Imperial Coll Healthcare NHS Trust, Dept Paediat, London, England

[18] Laikon Gen Hosp, Ctr Expertise Haemoglobinopathies, Thalassemia Unit, Athens, Greece

[19] IRCCS Osped Policlin San Martino, UO Ematol & Terapie Cellulari, Genoa, Italy

[20] Univ Paris Cite, Necker Enfants Malad Hosp, AP HP, Sickle Cell Ctr,Dept Gen Pediat & Pediat Infect Di, Paris, France

[21] Lab Excellence GR Ex, Paris, France

来源：

HEMASPHERE | 2025年 / 9卷 / 03期

关键词：

BONE-MARROW-TRANSPLANTATION; CORD BLOOD TRANSPLANTATION; EVENT-FREE SURVIVAL; PULMONARY-HYPERTENSION; DONOR TRANSPLANTATION; ALPHA-THALASSEMIA; FETAL-HEMOGLOBIN; BETA-THALASSEMIA; CHILDREN; RISK;

D O I：

10.1002/hem3.70089

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Sickle cell disease (SCD) remains associated with reduced life expectancy and poor quality of life despite improvements observed in the last decades mostly related to comprehensive care, use of hydroxycarbamide, screening to identify patients at risk of strokes, and implementation of safe transfusion protocols. The course of the disease is highly variable, making it difficult to predict severity and response to therapy. Allogeneic hematopoietic stem cell transplantation potentially provides a cure with a relatively low rate of complications, but few patients have an HLA-identical sibling. The hopes of patients and healthcare providers have been raised after the initial excellent results of gene therapy studies. However, there is a strong contrast between the high expectations of families and patients and the limited availability of the product, which is technically complex and very expensive. In light of this consideration and of the limited data available on the long-term efficacy and toxicity of different gene therapy approaches, the European Hematology Association Red Cell & Iron Specialized Working Group (EHA SWG) and the hemoglobinopathy working part of the European Blood & Marrow Transplant (EBMT) Group have prioritized the development of recommendations for selection of patients with SCD who are good candidates for gene therapy. The decision-making algorithm was developed by a panel of experts in hemoglobinopathies and/or transplantation chosen by EHA SWG and EBMT, to discuss the selection of SCD patients for gene therapy and draw notes on the related clinical problems.

引用

页数：15