Evidence map›Paper›PMID 40481231›Full record

ArticleEuropean journal of human genetics : EJHG2025

First report of successful pregnancies after treatment with alpelisib for PIK3CA-related overgrowth spectrum.

Gabriel Morin, Antoine Fraissenon, Caroline Chopinet, Estelle Balducci, Sophie Kaltenbach, Patrick Villarese, Vahid Asnafi, Laurent Guibaud, Guillaume Canaud

Abstract readCase Reports
In one paragraph

Article in European journal of human genetics : EJHG, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Review
  3. Genomic medicine in full bloom: a summer farewell issue.European journal of human genetics : EJHG · 2025
    Article
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

9 authors.

Gabriel MorinUniversité Paris Cité, Paris, France.ORCID 0000-0002-8423-6701
Antoine FraissenonINSERM U1151, Institut Necker-Enfants Malades, Paris, France.ORCID 0000-0003-4414-1246
Caroline ChopinetService de Physiologie & Explorations Fonctionnelles Cardiovasculaires, CHU de Lille, Lille, France.
Estelle BalducciUniversité Paris Cité, Paris, France.
Sophie KaltenbachUniversité Paris Cité, Paris, France.
Patrick VillareseUniversité Paris Cité, Paris, France.
Vahid AsnafiUniversité Paris Cité, Paris, France.
Laurent GuibaudINSERM U1151, Institut Necker-Enfants Malades, Paris, France.
Guillaume CanaudUniversité Paris Cité, Paris, France. guillaume.canaud@inserm.fr.ORCID 0000-0002-9901-8635

Funding

Agence Nationale de la Recherche (French National Research Agency) 19-CE14-0030-01EC | EU Framework Programme for Research and Innovation H2020 | H2020 Priority Excellent Science | H2020 European Research Council (H2020 Excellent Science - European Research Council) 101000948
6 · The paper itself

Abstract

Alpelisib is a selective PI3Kα inhibitor approved for treating PIK3CA-related overgrowth spectrum (PROS), a group of rare malformation disorders. Given that PI3Kα is a ubiquitous protein involved in cell proliferation, understanding the long-term impact of alpelisib on fertility is of critical importance. Here, we report the favorable outcomes of three pregnancies in PROS patients after prolonged treatment with alpelisib. Although disease progression was observed in all three patients during pregnancy, vascular malformations remained sensitive to alpelisib without evidence of secondary resistance upon resuming treatment. In conclusion, we provide the first evidence that alpelisib does not appear to affect fertility in female patients with PROS.

Indexed as

Class I Phosphatidylinositol 3-KinasesGrowth DisordersThiazolesAdultFemaleHumansPregnancyAlpelisibClass I Phosphatidylinositol 3-KinasesPIK3CA protein, humanThiazoles

Identifiers

PMID40481231
PMCPMC12322174

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Registered trials

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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 OpenQuestion graph.