Hieltjes I J, van der Lee J H, Groenendijk M C, van Haaften G, van Hasselt P M, Lunsing R J, van Prooijen G J J, de Ruiter E M, van Spronsen F J, Verhoeven-Duif N M, de Vreugd A, Wagenmakers M, Zweers H, Dekker H, Waterham H R, van Karnebeek C D, Wanders R J A, Wevers R A
Knowledge Institute of the Dutch Association of Medical Specialists Utrecht The Netherlands.
Department of Pediatrics and Human Genetics, Emma Center for Personalized Medicine Amsterdam UMC Amsterdam The Netherlands.
JIMD Rep. 2024 Dec 22;66(1):e12455. doi: 10.1002/jmd2.12455. eCollection 2025 Jan.
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.
To generate a translational knowledge agenda, which identifies and prioritizes research questions, directly relevant to patient care or for IMD patients and their families.
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.
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.
遗传性代谢疾病（IMDs）可能对患者及其家庭产生重大影响。尽管这些疾病各自罕见，涵盖超过1800种不同疾病，但它们共同产生了重大影响，常常导致终身残疾。成立代谢疾病联合组织是为了推动研究并转化为尽可能最佳的治疗。
制定一个转化性知识议程，确定与患者护理直接相关或针对IMD患者及其家庭的研究问题并确定其优先级。
遵循荷兰医学专家协会知识研究所制定的流程，我们为IMDs制定了一个全面的转化性知识议程。一个由12名不同代谢领域专家组成的多学科指导委员会通过在线问卷采用滚雪球法收集研究问题。在一次由所有利益相关者群体的22名代表参加的会议上，对提出的462个问题进行了分类和优先级排序。得出的前10大研究问题涵盖多个主题，即疾病进展预测、新型工具开发、机制洞察、改进诊断、多组学技术的治疗整合、对日常生活影响的评估、拓展治疗途径、优化研究设计、生活方式干预的效果以及使用FAIR原则的数据利用。
这一集体努力体现了罕见病研究所需的合作精神。这个知识议程将指导资金投入方向和申请，但也将促进跨学科合作，以推动IMDs研究领域在新的UMD联合组织中向前发展。患者参与、透明度和全面方法使这个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。
