Development of the Dutch translational knowledge agenda for inherited metabolic diseases

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

doi:10.1002/jmd2.12455

Development of the Dutch translational knowledge agenda for inherited metabolic diseases

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

Knowledge Institute of the Dutch Association of Medical Specialists
Amsterdam Leukodystrophy Center
MetaPACT
Stichting Stofwisselkracht
United for Metabolic Diseases (UMD)
Utrecht University
United for Metabolic Diseases (UMD), Amsterdam, The Netherlands
University of Groningen
MetaPACT The Netherlands
Patiëntenvereniging voor Stofwisselingsziekten (VKS)
Radboud University Nijmegen
Erasmus University Rotterdam
Diëtisten Erfelijke Stofwisselingsziekten (DIES)

Research output: Contribution to journal › Article › Academic › peer-review

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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.

Original language	English
Article number	e12455
Pages (from-to)	e12455
Journal	JIMD reports
Volume	66
Issue number	1
DOIs	https://doi.org/10.1002/jmd2.12455
Publication status	Published - 1 Jan 2025

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 16 Peace, Justice and Strong Institutions

Keywords

gene therapy
knowledge agenda
metabolomics
natural course
pathophysiology
patient and public involvement
personalized medicine
prevention
psychosocial burden
quality of life
rare diseases
research priorities
trial design

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Development-of-the-dutch-translational-knowledge-agenda-for-inherited-metabolic-diseases.pdfFinal published version, 1.06 MB

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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. (2025). Development of the Dutch translational knowledge agenda for inherited metabolic diseases. JIMD reports, 66(1), e12455. Article e12455. https://doi.org/10.1002/jmd2.12455

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title = "Development of the Dutch translational knowledge agenda for inherited metabolic diseases",

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.",

keywords = "gene therapy, knowledge agenda, metabolomics, natural course, pathophysiology, patient and public involvement, personalized medicine, prevention, psychosocial burden, quality of life, rare diseases, research priorities, trial design",

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

note = "Publisher Copyright: {\textcopyright} 2024 The Author(s). JIMD Reports published by John Wiley \& Sons Ltd on behalf of SSIEM.",

year = "2025",

month = jan,

day = "1",

doi = "10.1002/jmd2.12455",

language = "English",

volume = "66",

pages = "e12455",

journal = "JIMD reports",

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Hieltjes, IJ, van der Lee, JH, Groenendijk, MC, van Haaften, G, van Hasselt, PM, Lunsing, RJ, van Prooijen, GJJ, de Ruiter, EM, van Spronsen, FJ, Verhoeven-Duif, NM, de Vreugd, A, Wagenmakers, M, Zweers, H, Dekker, H , Waterham, HR , van Karnebeek, CD , Wanders, RJA & Wevers, RA 2025, 'Development of the Dutch translational knowledge agenda for inherited metabolic diseases', JIMD reports, vol. 66, no. 1, e12455, pp. e12455. https://doi.org/10.1002/jmd2.12455

TY - JOUR

T1 - Development of the Dutch translational knowledge agenda for inherited metabolic diseases

AU - Hieltjes, I J

AU - van der Lee, J H

AU - Groenendijk, M C

AU - van Haaften, G

AU - van Hasselt, P M

AU - Lunsing, R J

AU - van Prooijen, G J J

AU - de Ruiter, E M

AU - van Spronsen, F J

AU - Verhoeven-Duif, N M

AU - de Vreugd, A

AU - Wagenmakers, M

AU - Zweers, H

AU - Dekker, H

AU - Waterham, H R

AU - van Karnebeek, C D

AU - Wanders, R J A

AU - Wevers, R A

PY - 2025/1/1

Y1 - 2025/1/1

N2 - 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.

AB - 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.

KW - gene therapy

KW - knowledge agenda

KW - metabolomics

KW - natural course

KW - pathophysiology

KW - patient and public involvement

KW - personalized medicine

KW - prevention

KW - psychosocial burden

KW - quality of life

KW - rare diseases

KW - research priorities

KW - trial design

UR - https://www.scopus.com/pages/publications/85212705778

U2 - 10.1002/jmd2.12455

DO - 10.1002/jmd2.12455

M3 - Article

C2 - 39723120

SN - 2192-8304

VL - 66

SP - e12455

JO - JIMD reports

JF - JIMD reports

IS - 1

M1 - e12455

ER -

Development of the Dutch translational knowledge agenda for inherited metabolic diseases

Abstract

UN SDGs

Keywords

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