Morin, Gabriel https://orcid.org/0000-0002-8423-6701
Garneau, Alexandre P https://orcid.org/0000-0003-1450-0949
Bouzakher, Nabiha
Ségot, Louise
Fraissenon, Antoine https://orcid.org/0000-0003-4414-1246
Blondel, Amélie
Petit, Florence
Chopinet, Caroline
Mayeux, Franck
Fayoux, Pierre
Dompmartin, Anne
Bodemer, Christine
Balducci, Estelle
Kaltenbach, Sophie
Villarese, Patrick
Asnafi, Vahid
Legendre, Christophe
Broissand, Christine
Fraitag, Sylvie
Quelin, Chloé
Goudin, Nicolas https://orcid.org/0000-0002-3967-4016
Guibaud, Laurent
Canaud, Guillaume https://orcid.org/0000-0002-9901-8635
Funding for this research was provided by:
EC | ERC | HORIZON EUROPE European Research Council (101000948)
Agence Nationale de la Recherche (ANR-18-RHUS-005)
Agence Nationale de la Recherche (19-CE14-0030-01)
Fondation d'entreprise IRCEM (2023)
Fonds de dotation Emmanuel BOUSSARD (2021)
MSD Avenir (2023 Signalopathies)
Fondation DAY SOLVAY (2020)
the Fondation Line RENAUD-Loulou GASTE (2019)
Fondation Schlumberger pour l'Education et la Recherche (2019)
Fondation Maladies Rares (2019)
Association Robert Debré pour la Recherche Médicale (2021)
Fondation pour la Recherche Médicale (FDM202006011222)
Banting Postdoctoral Fellowship (472149)
CLOVES SYNDROME COMMUNITY
Association Syndrome de CLOVES
Fondation Bettencourt Schueller
Fondation Simone et Cino Del Duca
Fondation TOURRE
WonderFIL smiles a Facial Infiltrating Lipomatosis community
Institut National de la Santé et de la Recherche Médicale
Assistance Publique Hôpitaux de Paris
Université Paris Cité
Article History
Received: 3 October 2023
Revised: 3 April 2025
Accepted: 24 April 2025
First Online: 19 May 2025
Disclosure and competing interests statement
: A patent application (“BYL719 (alpelisib) for use in the treatment of PIK3CA-related overgrowth spectrum” #WO2017140828A1) has been filed by INSERM (Institut National de la Santé et de la Recherche Médicale), Centre National De La Recherche Scientifique (CNRS), Université Paris Cité, and Assistance Publique-Hôpitaux De Paris (AP-HP) for the use of BYL719 (alpelisib) in the treatment of PIK3CA -related overgrowth spectrum (PROS/CLOVES syndrome). G. Canaud is the inventor. This patent is licensed to Novartis. Guillaume Canaud receives or has received consulting fees from Novartis, Fresenius Medical Care, Vaderis, Alkermes, IPSEN and BridgeBio. The other authors declare no other competing interests. Guillaume Canaud is an editorial advisory board member. This has no bearing on the editorial consideration of this article for publication.