“了解和治疗Kosaki/Penttinen综合征”国际合作联盟:关于酪氨酸激酶抑制剂安全性和有效性的随访,自然历史和现实观察研究的建议。

IF 3.7 2区 医学 Q2 GENETICS & HEREDITY
Yordi-Michaël Bouhatous, Cecilie Bredrup, Agnes Maurer, Liubinka Mirakovska, Alison Foster, Kenjiro Kosaki, Céline Jost, Jean-Baptiste Demoulin, Maxime Luu, Pierre Vabres, Jean-Emmanuel Kurtz, Elise Schaefer, Anne Guimier, Valerie Cormier-Daire, Derek Lim, Sarah Thompson, Lorin Olson, Hae Ryong Kwon, Cristina Aguirre-Rodriguez, Unai Hernandez-Dorronsoro, Itziar Martinez-Soroa, Helena Iznardo, José-Manuel Mascaró, Eulalia Baselga, Silvia Kalantari, Alessandro Mussa, Andrea Gazzin, Diana Carli, Ingrid Svinvik, Hatice Mutlu-Albayrak, Sarah Bluefeather, Yuri Zarate, Toshiki Takenouchi, Thirona Naicker, Antoinette Chateau, Ashmika Gokhul, Anele Dube-Pule, Muzhirah Haniffa, Winnie Ong Peitee, Ann Nordgren, Maud Carpentier, Christine Binquet, Anne-Sophie Briffaut, Laurence Bal, Dinel Pond, Cecilie F Rustad, Marc Bardou, Laurence Faivre
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引用次数: 0

摘要

背景:认识和治疗Kosaki综合征和Penttinen综合征这两种由PDGFRB杂合激活变异体引起的超罕见退行性多系统综合征已经成立了5年。可发生神经、矫形和血管恶化。用酪氨酸激酶抑制剂(TKIs)治疗的病例报告表明,这些药物可能是未来的一种治疗选择。两年一次的远程会议为分享这些综合征的知识提供了机会。材料和方法:该联盟验证了沟通过程,标准化了随访指南,建立了一个数据库来改善这些综合征的自然病史,并通过比较治疗和未治疗的患者来评估TKIs的现实安全性和有效性。监管框架已经到位。结果:截至2024年11月,来自13个国家的18支团队加入了该联盟。在世界范围内,已确认的或未发表的患者超过25例;其中7例接受TKI治疗。该指南包括受疾病影响的每个器官的回顾性和前瞻性切片,并以文献和专家意见为基础。它们还包括建议对在同情使用下规定的治疗的有效性和安全性进行标准化评估。结论:联盟欢迎新团队的不断加入。这些建议在这种罕见的退行性疾病中特别有用。现实生活中的观察性研究似乎是一个适当的模式,以提高认识,包括评估治疗效果,当疾病的流行不允许建立临床试验。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
'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.

Background: 5 years have passed since the formation of the multidisciplinary consortium 'Knowing & Treating Kosaki and Penttinen Syndromes', two ultra-rare degenerative multisystem syndromes caused by heterozygous activating variants in PDGFRB. Neurological, orthopaedic and vascular deterioration can occur. Case reports of patients treated with tyrosine kinase inhibitors (TKIs) suggest that these drugs may be a therapeutic option in the future. The bi-annual remote meetings provide an opportunity to share knowledge on these syndromes.

Material and methods: The consortium has validated the communication process, standardised follow-up guidelines, established a database to improve the natural history of these syndromes and evaluated the real-world safety and efficacy profile of TKIs by comparing treated and untreated patients. The regulatory framework is in place.

Results: As of November 2024, 18 teams in 13 countries have joined the consortium. More than 25 patients have been identified worldwide, either published or unpublished; 7 of them were treated with a TKI. The guidelines include retrospective and prospective sections for each organ affected by the disease and are based on literature and expert opinion. They also include recommendations to standardise the assessment of the efficacy and safety of treatments prescribed under compassionate use.

Conclusion: 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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来源期刊
Journal of Medical Genetics
Journal of Medical Genetics 医学-遗传学
CiteScore
7.60
自引率
2.50%
发文量
92
审稿时长
4-8 weeks
期刊介绍: Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic evaluation of such applications worldwide.
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