CASE REPORT article

Front. Pediatr.

Sec. Pediatric Hematology and Hematological Malignancies

Volume 13 - 2025 | doi: 10.3389/fped.2025.1625751

Case report: Eltrombopag in Mosaic and Gene Therapy-Treated Patients with Fanconi Anemia.

Provisionally accepted
Josune ZubicarayJosune Zubicaray1,2,3June IriondoJune Iriondo1,2,3Elena SebastiánElena Sebastián1,2,3Alejandro SanzAlejandro Sanz1,2,3Paula RioPaula Rio3,4,5Jean SoulierJean Soulier6,7,8Sonsoles San Román PachecoSonsoles San Román Pacheco9Jose Javier UrizJose Javier Uriz10,11Susana S.navarro@ciemat.esSusana S.navarro@ciemat.es3,4,5Eileen NicolettiEileen Nicoletti12Juan BuerenJuan Bueren3,4,5Jonathan SchwartzJonathan Schwartz12Julian SevillaJulian Sevilla1,2,3*
  • 1Department of Pediatric Hematology and Oncology, Niño Jesús University Children's Hospital, Madrid, Madrid, Spain
  • 2Fundación para la Investigación del Hospital Niño Jesús, Madrid, Madrid, Spain
  • 3Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Madrid Community, Spain
  • 4Biomedical Innovation Unit, CIEMAT, Madrid, Asturias, Spain
  • 5Health Research Institute Foundation Jimenez Diaz (IIS-FJD), Madrid, Madrid, Spain
  • 6Institut de Recherche Saint Louis, Université de Paris, Paris, France
  • 7Institut National de la Santé et de la Recherche Médicale (INSERM), Paris, Île-de-France, France
  • 8Hôpital Saint-Louis, Paris, France
  • 9Pediatric Hematology and Oncology Department, University Hospital La Paz, La Paz, Madrid, Spain
  • 10Donostia University Hospital, San Sebastian, Spain
  • 11Biodonostia Health Research Institute (IIS Biodonostia), San Sebastian, Spain
  • 12Rocket Pharmaceuticals, Inc, Cranbury, United States

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Fanconi anemia (FA) constitutes the most common of the inherited bone marrow failure syndromes, a group of rare heterogeneous disorders characterized by cytopenia, predisposition to hematologic and solid malignancies and diverse clinical features. Currently, the only available hematopoietic curative treatment for bone marrow failure is an allogeneic hematopoietic stem cell transplantation (HSCT), although gene therapy has demonstrated evidence of efficacy and substantially reduced toxicity. It has been demonstrated that eltrombopag stimulates trilineage hematopoiesis in aplastic anemia, and preclinical studies suggest it promotes DNA repair in FA hematopoietic stem cells (HSCs). Herein, we report the experience with eltrombopag in a patient misdiagnosed with aplastic anemia and subsequently determined to have FA mosaicism and in two FA patients who previously received gene therapy but who were infused with very low numbers of gene-corrected HSCs. Strikingly, the patient with somatic mosaicism achieved transfusion independence and averted HSCT, and the gene-therapy patients showed a marked increase of corrected cells during treatment.

Keywords: Fanconi Anemia, bone marrow failure, eltrombopag, Gene Therapy, Mosaicism

Received: 09 May 2025; Accepted: 27 Jun 2025.

Copyright: © 2025 Zubicaray, Iriondo, Sebastián, Sanz, Rio, Soulier, San Román Pacheco, Uriz, S.navarro@ciemat.es, Nicoletti, Bueren, Schwartz and Sevilla. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Julian Sevilla, Department of Pediatric Hematology and Oncology, Niño Jesús University Children's Hospital, Madrid, 28009, Madrid, Spain

Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.

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