A prime editing strategy to rewrite the γ-globin promoters and reactivate fetal hemoglobin for sickle cell disease

A Anne Chalumeau M Maria Bou Dames (1Université Paris Cité, Imagine Institute, Laboratory of Chromatin and Gene Regulation during Development, INSERM Unité Mixte de Recherche 1163, Paris, France) L Letizia Fontana (1Université Paris Cité, Imagine Institute, Laboratory of Chromatin and Gene Regulation during Development, INSERM Unité Mixte de Recherche 1163, Paris, France) S Simone Amistadi (1Université Paris Cité, Imagine Institute, Laboratory of Chromatin and Gene Regulation during Development, INSERM Unité Mixte de Recherche 1163, Paris, France) P Panagiotis Antoniou P Priyanka Loganathan (1Université Paris Cité, Imagine Institute, Laboratory of Chromatin and Gene Regulation during Development, INSERM Unité Mixte de Recherche 1163, Paris, France) M Margaux Mombled (3Genethon, INSERM Unité Mixte de Recherche S951, Evry, France) G Guillaume Corre (3Genethon, INSERM Unité Mixte de Recherche S951, Evry, France) M Martin Peterka M Mario Amendola (3Genethon, INSERM Unité Mixte de Recherche S951, Evry, France) C Carine Giovannangeli M Marcello Maresca A Annarita Miccio M Mégane Brusson

Abstract

Abstract Fetal hemoglobin reactivation is a promising therapy for β-hemoglobinopathies. We developed a prime editing strategy that introduces multiple mutations in the fetal γ-globin promoters that are expected to increase their activity. We tested multiple targets and optimized a variety of parameters to achieve ∼50% of precise edits in a hematopoietic cell line, with minimal off-target effects. This work improved our understanding of the complex DNA repair mechanisms involved in prime editing. We tested this strategy in patients’ hematopoietic stem/progenitor cells. Although editing efficiency was variable among donors, erythroid clones carrying multiple mutations expressed a significantly higher γ-globin level than cells carrying individual mutations, confirming the potential therapeutic benefit of our combined strategy for patients with β-hemoglobinopathies.

Article Details

Journal Blood
Volume / Issue Vol. 146, Issue 22
Published November 27, 2025
Pages 2641-2655
ISSN 0006-4971
Publisher Elsevier BV

Journal Info

Blood

Elsevier BV

ISSN: 0006-4971 Health Sciences

Authors (14)

A

Anne Chalumeau

M

Maria Bou Dames

1Université Paris Cité, Imagine Institute, Laboratory of Chromatin and Gene Regulation during Development, INSERM Unité Mixte de Recherche 1163, Paris, France

L

Letizia Fontana

1Université Paris Cité, Imagine Institute, Laboratory of Chromatin and Gene Regulation during Development, INSERM Unité Mixte de Recherche 1163, Paris, France

S

Simone Amistadi

1Université Paris Cité, Imagine Institute, Laboratory of Chromatin and Gene Regulation during Development, INSERM Unité Mixte de Recherche 1163, Paris, France

P

Panagiotis Antoniou

P

Priyanka Loganathan

1Université Paris Cité, Imagine Institute, Laboratory of Chromatin and Gene Regulation during Development, INSERM Unité Mixte de Recherche 1163, Paris, France

M

Margaux Mombled

3Genethon, INSERM Unité Mixte de Recherche S951, Evry, France

G

Guillaume Corre

3Genethon, INSERM Unité Mixte de Recherche S951, Evry, France

M

Martin Peterka

M

Mario Amendola

3Genethon, INSERM Unité Mixte de Recherche S951, Evry, France

C

Carine Giovannangeli

M

Marcello Maresca

A

Annarita Miccio

M

Mégane Brusson