‘Knowing and Treating Kosaki/Penttinen syndrome’ international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors

The consortium welcomes new teams on an ongoing basis. Recommendations are especially useful in such ultra-rare degenerative diseases. The real-life observational study seems to be an appropriate model to improve knowledge, including the assessment of treatment efficacy when the prevalence of the disease does not allow the setting up of clinical trials.

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Publication Details

Journal
Journal of Medical Genetics
Published
2025-07-24
DOI
https://doi.org/10.1136/jmg-2024-110600
Primary Topic
Sarcoidosis and Beryllium Toxicity Research
Type
article
Field-Weighted Citation Impact
0.00

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article

‘Knowing and Treating Kosaki/Penttinen syndrome’ international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors

Jean‐Baptiste Demoulin, Cecilie Bredrup, Valérie Cormier‐Daire, Sarah Thompson et al.
Journal of Medical Genetics
Sarcoidosis and Beryllium Toxicity Research
article

‘Knowing and Treating Kosaki/Penttinen syndrome’ international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors

Jean‐Baptiste Demoulin, Cecilie Bredrup, Valérie Cormier‐Daire, Sarah Thompson, Cecilie F. Rustad, Helena Iznardo, Winnie Ong Peitee, Andrea Gazzin, Agnès Maurer, José M. Mascaró, Laurence Olivier Faivre, Lorin E. Olson, Eulàlia Baselga, Thirona Naicker, Christine Binquet, Élise Schaefer, Silvia Kalantari, Maxime Luu, Yuri A. Zárate, Itziar Martínez‐Soroa, Hatice Mutlu Albayrak, Camille Jost, Laurence Bal, Hae Ryong Kwon, P. Vabres, Maud Carpentier, Muzhirah Haniffa, Toshiki Takenouchi, Anne Guimier, Diana Carli, Alessandro Mussa, Ann Nordgren, Marc Bardou, Jean‐Emmanuel Kurtz, Kenjiro Kosaki, Antoinette Chateau, Alison Foster, Dinel Pond, Derek Lim, Anne-Sophie Briffaut, Yordi-Michaël Bouhatous, Cristina Aguirre-Rodriguez, Unai Hernandez-Dorronsoro, Ingrid Svinvik, Sarah Bluefeather, Ashmika Gokhul, Anele Dube-Pule, Liubinka Mirakovska
article en

Abstract

The consortium welcomes new teams on an ongoing basis. Recommendations are especially useful in such ultra-rare degenerative diseases. The real-life observational study seems to be an appropriate model to improve knowledge, including the assessment of treatment efficacy when the prevalence of the disease does not allow the setting up of clinical trials.

Journal of Medical GeneticsVol. 62(10)
Oslo University Hospital (NO), Hôpital Necker-Enfants Malades (FR), Hospital Sant Joan de Déu Barcelona (ES), University of Kentucky (US), Ankara University (TR), Inserm (FR), Okayama University (JP), Université de Bourgogne (FR), Keio University (JP), Université Paris Cité (FR), University of Pavia (IT), Hospital Kuala Lumpur (MY), Haukeland University Hospital (NO), Hospital de Sant Pau (ES), Karolinska Institutet (SE), University of Saint Mary (US), Oklahoma Medical Research Foundation (US), Institut Necker Enfants Malades (FR), Assistance Publique Hôpitaux de Marseille (FR), Institut de Cancérologie Strasbourg (FR), Biogipuzkoa Health Research Institute (ES), de Duve Institute (BE), Hospital Clínic de Barcelona (ES), CHU Dijon Bourgogne (FR), Children's Minnesota (US), Centre de recherche Translationnelle en Médecine moléculaire (FR), Hôpitaux Universitaires de Strasbourg (FR), Birmingham Women’s and Children’s NHS Foundation Trust (GB), Institut des Maladies Génétiques Imagine (FR), University of Bergen (NO), University of Arkansas for Medical Sciences (US), UCLouvain (BE)
European Regional Development Fund
Partnerships for the goals
Openalex Percentile: Top 76%
Sarcoidosis and Beryllium Toxicity Research
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