Development of the Dutch translational knowledge agenda for inherited metabolic diseases

IF 1.8 Q2 Biochemistry, Genetics and Molecular Biology

JIMD reports Pub Date : 2024-12-22 DOI:10.1002/jmd2.12455

I. J. Hieltjes, J. H. van der Lee, M. C. Groenendijk, G. van Haaften, P. M. van Hasselt, R. J. Lunsing, G. J. J. van Prooijen, E. M. de Ruiter, F. J. van Spronsen, N. M. Verhoeven-Duif, A. de Vreugd, M. Wagenmakers, H. Zweers, H. Dekker, H. R. Waterham, C. D. van Karnebeek, R. J. A. Wanders, R. A. Wevers

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Abstract

Background

Inherited metabolic diseases (IMDs) may have considerable implications for patients and their families. Despite their individual rarity, covering a spectrum of over 1800 distinct diseases, the diseases collectively exert a significant impact, with often lifelong disabilities. The United for Metabolic Diseases consortium was established to catalyze research with translation into the best possible care.

Aim

To generate a translational knowledge agenda, which identifies and prioritizes research questions, directly relevant to patient care or for IMD patients and their families.

Methods and Results

Following a process established by the Knowledge Institute of the Dutch Association of Medical Specialists, we generated a comprehensive translational knowledge agenda for IMDs. A multidisciplinary steering committee, composed of 12 diverse metabolic experts collected research questions through an online questionnaire using snowballing. The 462 proposed questions were categorized and prioritized during a meeting attended by 22 representatives of all stakeholder groups. The resulting top 10 research questions cover multiple themes, i.e. prediction of disease progression, development of novel tools, mechanistic insights, improved diagnostics, therapeutic integration of multi-omics techniques, assessment of impact on daily life, expanding treatment avenues, optimal study designs, effect of lifestyle interventions, and data utilization using FAIR principles.

Discussion

This collective endeavor reflects the collaborative spirit needed for rare disease research. This knowledge agenda will guide funding directions and applications but will also boost interdisciplinary collaboration to push the field of IMDs research forward in a renewed UMD consortium. Patient engagement, transparency, and a comprehensive approach make this knowledge agenda a pivotal step toward addressing the pressing research needs and priorities in this domain.

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制定荷兰遗传代谢疾病转化知识议程。

背景：遗传性代谢性疾病（IMDs）可能对患者及其家属有相当大的影响。尽管这些疾病个别罕见，涵盖1800多种不同的疾病，但它们共同造成重大影响，往往造成终身残疾。代谢性疾病联合联盟的成立是为了促进研究转化为最好的治疗。目的：生成一个转化知识议程，确定并优先考虑与患者护理或IMD患者及其家属直接相关的研究问题。方法和结果：根据荷兰医学专家协会知识研究所建立的程序，我们为imd制定了一个全面的转化知识议程。由12名代谢专家组成的多学科指导委员会通过滚雪球式的在线问卷收集了研究问题。在所有利益相关者团体的22名代表参加的会议上，对462个提出的问题进行了分类和优先排序。由此产生的十大研究问题涵盖了多个主题，即疾病进展的预测、新工具的开发、机制见解、改进的诊断、多组学技术的治疗整合、对日常生活影响的评估、扩大治疗途径、最佳研究设计、生活方式干预的效果以及使用FAIR原则的数据利用。讨论：这种集体努力反映了罕见病研究所需要的合作精神。这一知识议程将指导资助方向和应用，但也将促进跨学科合作，在一个新的UMD联盟中推动imd研究领域的发展。患者参与、透明度和全面的方法使这一知识议程成为解决该领域紧迫研究需求和优先事项的关键一步。

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