Koolen-de Vries Syndrome: a journey from diagnosis to treatments.

Therapeutic advances in rare disease Pub Date : 2024-07-28 eCollection Date: 2024-01-01 DOI:10.1177/26330040241265414

Anna C Pfalzer, Blake Ivers, Alayna Haynam, Barbara Drake, David A Koolen, Nael Nadif Kasri, Bert B A de Vries, Heather C Mefford, Angela Morgan, Terry Jo Bichell, Elijah Simon, Ananya Terala, Kenneth A Myers, Ashley Point

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Abstract

The Koolen-de Vries Syndrome Foundation was founded in 2013 with the mission to educate, increase awareness, promote research and develop treatments for individuals living with Koolen-de Vries Syndrome (KdVS) and their families. With this aim, the foundation has focused on: developing scientific resources through patient cell and animal models, providing seed funding to basic and clinical researchers, establishing a natural history study of KdVS and increasing patient engagement. Projects have been prioritized across these areas of focus with an emphasis on expanding international research on KdVS, supporting translational research, establishing an international natural history study and conducting studies to assess patient priorities. With the incredible growth amongst our research and patient community in the last decade, our goal is to have our first clinical trial for KdVS in 2026.

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库伦-德-弗里斯综合征：从诊断到治疗的历程。

库伦-德-弗里斯综合征基金会成立于 2013 年，其使命是为库伦-德-弗里斯综合征（KdVS）患者及其家属提供教育、提高认识、促进研究和开发治疗方法。为此，基金会重点关注：通过患者细胞和动物模型开发科学资源，为基础和临床研究人员提供种子基金，建立 KdVS 自然史研究，以及提高患者参与度。这些重点领域中的项目已被列为优先事项，重点是扩大国际 KdVS 研究、支持转化研究、建立国际自然史研究以及开展评估患者优先事项的研究。过去十年中，我们的研究和患者群体取得了令人难以置信的发展，我们的目标是在 2026 年进行首次 KdVS 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。

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Therapeutic advances in rare disease

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2.00

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