Methodology for the international working group clinical practice guidelines on X-linked hypophosphatemia in children and adults

Dalal S. Ali; Aliya A. Khan; Reza D. Mirza; Natasha M. Appelman-Dijkstra; Maria Luisa Brandi; Thomas O. Carpenter; Catherine Chaussain; Erik A. Imel; Suzanne M.Jan de Beur; Pablo Florenzano; Archibald Morrison; Hajar Abu Alrob; R. Todd Alexander; Farah Alsarraf; Signe Sparre Beck-Nielsen; Martin Biosse-Duplan; Martine Cohen-Solal; Rachel K. Crowley; Karel Dandurand; Guido Filler; Seiji Fukumoto; Claudia Gagnon; Paul Goodyer; Corinna Grasemann; Chelsey Grimbly; Salma Hussein; Muhammad K. Javaid; Sarah Khan; Aneal Khan; Anna Lehman; Willem F. Lems; E. Michael Lewiecki; Ciara McDonnell; Emmett Morgante; Anthony A. Portale; Yumie Rhee; Heide Siggelkow; Laura Tosi; Leanne M. Ward; Gordon Guyatt

doi:10.1007/s00774-025-01585-z

Methodology for the international working group clinical practice guidelines on X-linked hypophosphatemia in children and adults

Dalal S. Ali, Aliya A. Khan^*, Reza D. Mirza, Natasha M. Appelman-Dijkstra, Maria Luisa Brandi, Thomas O. Carpenter, Catherine Chaussain, Erik A. Imel, Suzanne M.Jan de Beur, Pablo Florenzano, Archibald Morrison, Hajar Abu Alrob, R. Todd Alexander, Farah Alsarraf, Signe Sparre Beck-Nielsen, Martin Biosse-Duplan, Martine Cohen-Solal, Rachel K. Crowley, Karel Dandurand, Guido FillerSeiji Fukumoto, Claudia Gagnon, Paul Goodyer, Corinna Grasemann, Chelsey Grimbly, Salma Hussein, Muhammad K. Javaid, Sarah Khan, Aneal Khan, Anna Lehman, Willem F. Lems, E. Michael Lewiecki, Ciara McDonnell, Emmett Morgante, Anthony A. Portale, Yumie Rhee, Heide Siggelkow, Laura Tosi, Leanne M. Ward, Gordon Guyatt

^*Corresponding author for this work

Department of Clinical Medicine - Department of Paediatrics

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

2 Citations (Scopus)

Abstract

The guideline panel, comprising international experts in X-linked hypophosphatemia (XLH), patient partners from the XLH patient population, and guideline methodologists, held 18 teleconferences between January 2023 and July 2024 to develop comprehensive guidelines for the diagnosis and management of XLH in children and adults. For a subset of our questions, we utilized the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) methodology, assessed the certainty of evidence and formulated GRADEd recommendations. For these questions, the panelists and methodologists collaboratively framed PICO (Population, Intervention, Control, and Outcomes) questions and conducted four systematic reviews assessing the impact of medical therapy—using either burosumab or phosphate and active vitamin D—on patient-important outcomes in the XLH population as well as the impact of medical intervention compared to no treatment. We assessed the risk of bias and transparently generated summary of findings tables using MAGICApp. The panel developed three GRADEd treatment recommendations for adults and two for children. Each GRADEd recommendation was linked to an underlying body of evidence, reflecting judgments on the certainty of evidence, recommendation strength, values, preferences, and considerations of costs, feasibility, acceptability, and equity. Due to the paucity of evidence, the panel developed very low-quality GRADEd recommendations on monitoring patients with XLH based on an expert clinical practice survey. Using a rigorous narrative literature review, the panel developed non-GRADEd recommendations including guidance for pregnant women, patients with dental complications, and other areas where evidence is limited. This article summarizes the methodology utilized for the development of both GRADEd and non-GRADEd recommendations for patients with XLH.

Original language	English
Journal	Journal of Bone and Mineral Metabolism
Volume	43
Issue	3
Pages (from-to)	193-202
Number of pages	10
ISSN	0914-8779
DOIs	https://doi.org/10.1007/s00774-025-01585-z
Publication status	Published - May 2025

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Ali, D. S., Khan, A. A., Mirza, R. D., Appelman-Dijkstra, N. M., Brandi, M. L., Carpenter, T. O., Chaussain, C., Imel, E. A., de Beur, S. M. J., Florenzano, P., Morrison, A., Alrob, H. A., Alexander, R. T., Alsarraf, F., Beck-Nielsen, S. S., Biosse-Duplan, M., Cohen-Solal, M., Crowley, R. K., Dandurand, K., ... Guyatt, G. (2025). Methodology for the international working group clinical practice guidelines on X-linked hypophosphatemia in children and adults. Journal of Bone and Mineral Metabolism, 43(3), 193-202. https://doi.org/10.1007/s00774-025-01585-z

@article{e609641ce421425bab04504651887235,

title = "Methodology for the international working group clinical practice guidelines on X-linked hypophosphatemia in children and adults",

abstract = "The guideline panel, comprising international experts in X-linked hypophosphatemia (XLH), patient partners from the XLH patient population, and guideline methodologists, held 18 teleconferences between January 2023 and July 2024 to develop comprehensive guidelines for the diagnosis and management of XLH in children and adults. For a subset of our questions, we utilized the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) methodology, assessed the certainty of evidence and formulated GRADEd recommendations. For these questions, the panelists and methodologists collaboratively framed PICO (Population, Intervention, Control, and Outcomes) questions and conducted four systematic reviews assessing the impact of medical therapy—using either burosumab or phosphate and active vitamin D—on patient-important outcomes in the XLH population as well as the impact of medical intervention compared to no treatment. We assessed the risk of bias and transparently generated summary of findings tables using MAGICApp. The panel developed three GRADEd treatment recommendations for adults and two for children. Each GRADEd recommendation was linked to an underlying body of evidence, reflecting judgments on the certainty of evidence, recommendation strength, values, preferences, and considerations of costs, feasibility, acceptability, and equity. Due to the paucity of evidence, the panel developed very low-quality GRADEd recommendations on monitoring patients with XLH based on an expert clinical practice survey. Using a rigorous narrative literature review, the panel developed non-GRADEd recommendations including guidance for pregnant women, patients with dental complications, and other areas where evidence is limited. This article summarizes the methodology utilized for the development of both GRADEd and non-GRADEd recommendations for patients with XLH.",

author = "Ali, \{Dalal S.\} and Khan, \{Aliya A.\} and Mirza, \{Reza D.\} and Appelman-Dijkstra, \{Natasha M.\} and Brandi, \{Maria Luisa\} and Carpenter, \{Thomas O.\} and Catherine Chaussain and Imel, \{Erik A.\} and \{de Beur\}, \{Suzanne M.Jan\} and Pablo Florenzano and Archibald Morrison and Alrob, \{Hajar Abu\} and Alexander, \{R. Todd\} and Farah Alsarraf and Beck-Nielsen, \{Signe Sparre\} and Martin Biosse-Duplan and Martine Cohen-Solal and Crowley, \{Rachel K.\} and Karel Dandurand and Guido Filler and Seiji Fukumoto and Claudia Gagnon and Paul Goodyer and Corinna Grasemann and Chelsey Grimbly and Salma Hussein and Javaid, \{Muhammad K.\} and Sarah Khan and Aneal Khan and Anna Lehman and Lems, \{Willem F.\} and Lewiecki, \{E. Michael\} and Ciara McDonnell and Emmett Morgante and Portale, \{Anthony A.\} and Yumie Rhee and Heide Siggelkow and Laura Tosi and Ward, \{Leanne M.\} and Gordon Guyatt",

year = "2025",

month = may,

doi = "10.1007/s00774-025-01585-z",

language = "English",

volume = "43",

pages = "193--202",

journal = "Journal of Bone and Mineral Metabolism",

issn = "0914-8779",

publisher = "Springer",

number = "3",

}

Ali, DS, Khan, AA, Mirza, RD, Appelman-Dijkstra, NM, Brandi, ML, Carpenter, TO, Chaussain, C, Imel, EA, de Beur, SMJ, Florenzano, P, Morrison, A, Alrob, HA, Alexander, RT, Alsarraf, F, Beck-Nielsen, SS, Biosse-Duplan, M, Cohen-Solal, M, Crowley, RK, Dandurand, K, Filler, G, Fukumoto, S, Gagnon, C, Goodyer, P, Grasemann, C, Grimbly, C, Hussein, S, Javaid, MK, Khan, S, Khan, A, Lehman, A, Lems, WF, Lewiecki, EM, McDonnell, C, Morgante, E, Portale, AA, Rhee, Y, Siggelkow, H, Tosi, L, Ward, LM & Guyatt, G 2025, 'Methodology for the international working group clinical practice guidelines on X-linked hypophosphatemia in children and adults', Journal of Bone and Mineral Metabolism, vol. 43, no. 3, pp. 193-202. https://doi.org/10.1007/s00774-025-01585-z

Methodology for the international working group clinical practice guidelines on X-linked hypophosphatemia in children and adults. / Ali, Dalal S.; Khan, Aliya A.; Mirza, Reza D. et al.
In: Journal of Bone and Mineral Metabolism, Vol. 43, No. 3, 05.2025, p. 193-202.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

TY - JOUR

T1 - Methodology for the international working group clinical practice guidelines on X-linked hypophosphatemia in children and adults

AU - Ali, Dalal S.

AU - Khan, Aliya A.

AU - Mirza, Reza D.

AU - Appelman-Dijkstra, Natasha M.

AU - Brandi, Maria Luisa

AU - Carpenter, Thomas O.

AU - Chaussain, Catherine

AU - Imel, Erik A.

AU - de Beur, Suzanne M.Jan

AU - Florenzano, Pablo

AU - Morrison, Archibald

AU - Alrob, Hajar Abu

AU - Alexander, R. Todd

AU - Alsarraf, Farah

AU - Beck-Nielsen, Signe Sparre

AU - Biosse-Duplan, Martin

AU - Cohen-Solal, Martine

AU - Crowley, Rachel K.

AU - Dandurand, Karel

AU - Filler, Guido

AU - Fukumoto, Seiji

AU - Gagnon, Claudia

AU - Goodyer, Paul

AU - Grasemann, Corinna

AU - Grimbly, Chelsey

AU - Hussein, Salma

AU - Javaid, Muhammad K.

AU - Khan, Sarah

AU - Khan, Aneal

AU - Lehman, Anna

AU - Lems, Willem F.

AU - Lewiecki, E. Michael

AU - McDonnell, Ciara

AU - Morgante, Emmett

AU - Portale, Anthony A.

AU - Rhee, Yumie

AU - Siggelkow, Heide

AU - Tosi, Laura

AU - Ward, Leanne M.

AU - Guyatt, Gordon

PY - 2025/5

Y1 - 2025/5

N2 - The guideline panel, comprising international experts in X-linked hypophosphatemia (XLH), patient partners from the XLH patient population, and guideline methodologists, held 18 teleconferences between January 2023 and July 2024 to develop comprehensive guidelines for the diagnosis and management of XLH in children and adults. For a subset of our questions, we utilized the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) methodology, assessed the certainty of evidence and formulated GRADEd recommendations. For these questions, the panelists and methodologists collaboratively framed PICO (Population, Intervention, Control, and Outcomes) questions and conducted four systematic reviews assessing the impact of medical therapy—using either burosumab or phosphate and active vitamin D—on patient-important outcomes in the XLH population as well as the impact of medical intervention compared to no treatment. We assessed the risk of bias and transparently generated summary of findings tables using MAGICApp. The panel developed three GRADEd treatment recommendations for adults and two for children. Each GRADEd recommendation was linked to an underlying body of evidence, reflecting judgments on the certainty of evidence, recommendation strength, values, preferences, and considerations of costs, feasibility, acceptability, and equity. Due to the paucity of evidence, the panel developed very low-quality GRADEd recommendations on monitoring patients with XLH based on an expert clinical practice survey. Using a rigorous narrative literature review, the panel developed non-GRADEd recommendations including guidance for pregnant women, patients with dental complications, and other areas where evidence is limited. This article summarizes the methodology utilized for the development of both GRADEd and non-GRADEd recommendations for patients with XLH.

AB - The guideline panel, comprising international experts in X-linked hypophosphatemia (XLH), patient partners from the XLH patient population, and guideline methodologists, held 18 teleconferences between January 2023 and July 2024 to develop comprehensive guidelines for the diagnosis and management of XLH in children and adults. For a subset of our questions, we utilized the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) methodology, assessed the certainty of evidence and formulated GRADEd recommendations. For these questions, the panelists and methodologists collaboratively framed PICO (Population, Intervention, Control, and Outcomes) questions and conducted four systematic reviews assessing the impact of medical therapy—using either burosumab or phosphate and active vitamin D—on patient-important outcomes in the XLH population as well as the impact of medical intervention compared to no treatment. We assessed the risk of bias and transparently generated summary of findings tables using MAGICApp. The panel developed three GRADEd treatment recommendations for adults and two for children. Each GRADEd recommendation was linked to an underlying body of evidence, reflecting judgments on the certainty of evidence, recommendation strength, values, preferences, and considerations of costs, feasibility, acceptability, and equity. Due to the paucity of evidence, the panel developed very low-quality GRADEd recommendations on monitoring patients with XLH based on an expert clinical practice survey. Using a rigorous narrative literature review, the panel developed non-GRADEd recommendations including guidance for pregnant women, patients with dental complications, and other areas where evidence is limited. This article summarizes the methodology utilized for the development of both GRADEd and non-GRADEd recommendations for patients with XLH.

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DO - 10.1007/s00774-025-01585-z

M3 - Journal article

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AN - SCOPUS:105000678983

SN - 0914-8779

VL - 43

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EP - 202

JO - Journal of Bone and Mineral Metabolism

JF - Journal of Bone and Mineral Metabolism

IS - 3

ER -

Methodology for the international working group clinical practice guidelines on X-linked hypophosphatemia in children and adults

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