Evidence map›Paper›PMID 40861050›Full record

ArticleFrontiers in pediatrics2025

Case Report: Eltrombopag in mosaic and gene therapy-treated patients with Fanconi anemia.

Josune Zubicaray, June Iriondo, Elena Sebastián, Alejandro Sanz, Paula Rio, Jean Soulier, Sonsoles San Román, José J Uriz, Susana Navarro, Eileen Nicoletti and 3 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Josune ZubicarayPediatric Hematology and Oncology Department and Foundation for the Biomedical Research, and Biomedical Network Research Center for Rare Diseases (CIBERER), Pediatric University Hospital Niño Jesús, Madrid, Spain.
June IriondoPediatric Hematology and Oncology Department and Foundation for the Biomedical Research, and Biomedical Network Research Center for Rare Diseases (CIBERER), Pediatric University Hospital Niño Jesús, Madrid, Spain.
Elena SebastiánPediatric Hematology and Oncology Department and Foundation for the Biomedical Research, and Biomedical Network Research Center for Rare Diseases (CIBERER), Pediatric University Hospital Niño Jesús, Madrid, Spain.
Alejandro SanzPediatric Hematology and Oncology Department and Foundation for the Biomedical Research, and Biomedical Network Research Center for Rare Diseases (CIBERER), Pediatric University Hospital Niño Jesús, Madrid, Spain.
Paula RioBiomedical Innovation Unit, Center for Research on Energy, Environment and Technology (CIEMAT), Biomedical Network Research Center for Rare Diseases (CIBERER) and Sanitary Research Institute Fundación Jiménez Díaz, Madrid, Spain.
Jean SoulierInstitut de Recherche Saint-Louis, Inserm, CNRS, and Hôpital Saint-Louis, APHP, Université Paris Cité, Paris, France.
Sonsoles San RománPediatric Hematology and Oncology Department, La Paz University Hospital, Madrid, Spain.
José J UrizPediatric Hematology and Oncology Unit, Pediatrics Department, Donostia University Hospital, San Sebastián, Spain.
Susana NavarroBiomedical Innovation Unit, Center for Research on Energy, Environment and Technology (CIEMAT), Biomedical Network Research Center for Rare Diseases (CIBERER) and Sanitary Research Institute Fundación Jiménez Díaz, Madrid, Spain.
Eileen NicolettiRocket Pharmaceuticals, Inc., Cranbury, NJ, United States.
Juan A BuerenBiomedical Innovation Unit, Center for Research on Energy, Environment and Technology (CIEMAT), Biomedical Network Research Center for Rare Diseases (CIBERER) and Sanitary Research Institute Fundación Jiménez Díaz, Madrid, Spain.
Jonathan D SchwartzRocket Pharmaceuticals, Inc., Cranbury, NJ, United States.
Julián SevillaPediatric Hematology and Oncology Department and Foundation for the Biomedical Research, and Biomedical Network Research Center for Rare Diseases (CIBERER), Pediatric University Hospital Niño Jesús, Madrid, Spain.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

bone marrow failureeltrombopagFanconi anemiagene therapymosaicism

Identifiers

PMID40861050
PMCPMC12375905

What Socratic holds

Textmetadata
LicenceCC BY
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.