Evidence map›Paper›PMID 40119067›Full record

ArticleJournal of bone and mineral metabolism2025

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 and 30 more

Abstract read
PubMed Publisher
In one paragraph

Article in Journal of bone and mineral metabolism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Guideline
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

40 authors.

Dalal S AliDivisions of Endocrinology and Metabolism, McMaster University, 223 3075 Hospital Gate, Oakville, ON, L6M 1M1, Canada.ORCID http://orcid.org/0000-0002-5378-5548
Aliya A KhanDivisions of Endocrinology and Metabolism, McMaster University, 223 3075 Hospital Gate, Oakville, ON, L6M 1M1, Canada. aliya@mcmaster.ca.ORCID http://orcid.org/0000-0003-3733-8956
Reza D MirzaDepartment of Health Research Methods, Evidence, and Impact at McMaster University, Hamilton, Canada.ORCID http://orcid.org/0000-0002-0576-4208
Natasha M Appelman-DijkstraDepartment of Internal Medicine, Division of Endocrinology, Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands.ORCID http://orcid.org/0000-0001-5035-127X
Maria Luisa BrandiF.I.R.M.O. Onlus, Italian Foundation for the Research on Bone Diseases, Florence, Italy.ORCID http://orcid.org/0000-0002-8741-0592
Thomas O CarpenterDepartments of Pediatrics (Endocrinology), and Orthopaedics and Rehabilitation, Yale University School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0003-1328-6768
Catherine ChaussainDepartment of Oral Medicine, Faculty of Dentistry, Inserm and APHP, Université Paris Cité, Paris, France.ORCID http://orcid.org/0000-0002-3463-3936
Erik A ImelDepartment of Medicine and Pediatrics, Endocrinology, Indiana University School of Medicine, Indianapolis, IN, USA.ORCID http://orcid.org/0000-0002-7284-3467
Suzanne M Jan de BeurUniversity of Virginia School of Medicine, Charlottesville, VA, USA.ORCID http://orcid.org/0000-0002-9386-7732
Pablo FlorenzanoDepartment of Endocrinology, School of Medicine Pontificia, Universidad Católica de Chile, Santiago, Chile.ORCID http://orcid.org/0000-0001-5936-3146
Archibald MorrisonCitadel Oral and Facial Surgery, Halifax, Canada.
Hajar Abu AlrobDepartment of Health Research Methods, Evidence, and Impact at McMaster University, Hamilton, Canada.ORCID http://orcid.org/0000-0001-7830-3237
R Todd AlexanderDepartment of Pediatrics, Faculty of Medicine and Dentistry, The University of Alberta, Edmonton, AB, Canada.ORCID http://orcid.org/0000-0001-7396-7894
Farah AlsarrafDivisions of Endocrinology and Metabolism, McMaster University, 223 3075 Hospital Gate, Oakville, ON, L6M 1M1, Canada.ORCID http://orcid.org/0000-0001-9426-9702
Signe Sparre Beck-NielsenCentre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.ORCID http://orcid.org/0000-0002-7561-9217
Martin Biosse-DuplanDepartment of Oral Medicine, Faculty of Dentistry, Inserm and APHP, Université Paris Cité, Paris, France.ORCID http://orcid.org/0000-0001-9417-3970
Martine Cohen-SolalDepartment of Rheumatology and Reference Center for Rare Bone Diseases, Hopital Lariboisiere, Paris, France.ORCID http://orcid.org/0000-0002-8582-8258
Rachel K CrowleyRare Disease Clinical Trial Network, University College Dublin, Dublin, Ireland.ORCID http://orcid.org/0000-0003-1472-4117
Karel DandurandUniversité de Sherbrooke, Sherbrooke, QC, Canada.ORCID http://orcid.org/0000-0003-1759-8419
Guido FillerDepartment of Paediatrics, Western University, London, ON, Canada.ORCID http://orcid.org/0000-0003-1891-6765
Seiji FukumotoDepartment of Medicine, Tamaki-Aozora Hospital, Tokushima, Japan.ORCID http://orcid.org/0000-0003-3610-3469
Claudia GagnonDepartment of Medicine, Université Laval, Quebec City, Canada.ORCID http://orcid.org/0000-0001-9623-962X
Paul GoodyerResearch Institute of the McGill University Health Centre, Montreal, Canada.ORCID http://orcid.org/0000-0002-3442-1407
Corinna GrasemannDepartment of Pediatrics, Division of Rare Diseases, Katholisches Klinikum Bochum and Ruhr-University Bochum, Bochum, Germany.ORCID http://orcid.org/0000-0003-1793-4603
Chelsey GrimblyDepartment of Pediatrics, Faculty of Medicine and Dentistry, The University of Alberta, Edmonton, AB, Canada.ORCID http://orcid.org/0000-0002-9302-7741
Salma HusseinDivisions of Endocrinology and Metabolism, McMaster University, 223 3075 Hospital Gate, Oakville, ON, L6M 1M1, Canada.ORCID http://orcid.org/0000-0002-7284-4822
Muhammad K JavaidNuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0001-7985-0048
Sarah KhanTrillium Health Partners, University of Toronto, Toronto, ON, Canada.ORCID http://orcid.org/0000-0003-3604-303X
Aneal KhanM.A.G.I.C. Clinic (Metabolics and Genetics in Canada), Calgary, AB, Canada.ORCID http://orcid.org/0000-0001-8131-7947
Anna LehmanUniversity of British Columbia, Adult Metabolic Diseases Clinic, Vancouver, BC, Canada.ORCID http://orcid.org/0000-0003-0636-123X
Willem F LemsDepartment of Rheumatology, UMC, Amsterdam, the Netherlands.ORCID http://orcid.org/0000-0002-6885-3953
E Michael LewieckiNew Mexico Clinical Research & Osteoporosis Center, Albuquerque, NM, USA.ORCID http://orcid.org/0000-0003-2026-9587
Ciara McDonnellDepartment of Pediatric Endocrinology & Diabetes, Children's Health Ireland, Dublin, Ireland.ORCID http://orcid.org/0000-0001-9414-5873
Emmett MorganteUniversity of Waterloo, Waterloo, ON, Canada.ORCID http://orcid.org/0009-0009-9271-0379
Anthony A PortaleDepartment of Pediatrics, University of California, San Francisco, San Francisco, CA, 94115, USA.ORCID http://orcid.org/0000-0003-2054-6898
Yumie RheeDepartment of Internal Medicine, Endocrine Research Institute, Yonsei University College of Medicine, Seoul, Korea.ORCID http://orcid.org/0000-0003-4227-5638
Heide SiggelkowDepartment of Trauma, Orthopedics and Reconstructive Surgery, University Medical Center Goettingen, Goettingen, Germany.ORCID http://orcid.org/0000-0002-8366-8625
Laura TosiDistrict of Columbia, George Washington University School of Medicine and Health Sciences, Washington, USA.ORCID http://orcid.org/0000-0001-8827-9883
Leanne M WardDepartment of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.ORCID http://orcid.org/0000-0003-1557-9185
Gordon GuyattDepartment of Health Research Methods, Evidence, and Impact at McMaster University, Hamilton, Canada.ORCID http://orcid.org/0000-0003-2352-5718

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Familial Hypophosphatemic RicketsPractice Guidelines as TopicAdultAntibodies, Monoclonal, HumanizedChildFemaleHumansAntibodies, Monoclonal, Humanizedburosumab

Identifiers

PMID40119067

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.