Evidence map›Paper›PMID 30696995›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019

Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders.

Ravi Savarirayan, Viviana Bompadre, Michael B Bober, Tae-Joon Cho, Michael J Goldberg, Julie Hoover-Fong, Melita Irving, Shawn E Kamps, William G Mackenzie, Cathleen Raggio and 3 more

Registry-linked trialAbstract read
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In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05408715 (An International Prospective Natural History Study in Children With a Type II Collagen Disorder With Short Stature), which is not on this map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–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.

NCT05408715 recruitingnot on this mapstarted 2022, after this paper: background citation

An International Prospective Natural History Study in Children With a Type II Collagen Disorder With Short Stature

Typeobservational_patient_registrySponsorInnoskelRan2022 to 2026Enrolled60ConditionsSEDC, Hypochondrogenesis, Semd, Strudwick Type, Kniest DysplasiaArmsNatural History Study
3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

  1. Article
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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

13 authors.

Ravi SavarirayanVictorian Clinical Genetics Services, Murdoch Children's Research Institute, University of Melbourne, VIC, Parkville, Australia. ravi.savarirayan@vcgs.org.au.ORCID http://orcid.org/0000-0002-5105-8427
Viviana BompadreDepartment of Orthopedics and Sports Medicine, Seattle Children's Hospital, Seattle, WA, USA.
Michael B BoberDivision of Genetics, Nemours A.I. duPont Hospital for Children, Wilmington, DE, USA.
Tae-Joon ChoDivision of Pediatric Orthopaedics, Seoul National University Children's Hospital, Seoul, South Korea.
Michael J GoldbergDepartment of Orthopedics and Sports Medicine, Seattle Children's Hospital, University of Washington, Seattle, WA, USA.
Julie Hoover-FongMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.
Melita IrvingDepartment of Clinical Genetics, Guy's and St Thomas NHS, London, UK.
Shawn E KampsDepartment of Radiology, Seattle Children's Hospital, University of Washington, Seattle, WA, USA.
William G MackenzieDepartment of Orthopedic Surgery, Nemours A.I. duPont Hospital for Children, Wilmington, DE, USA.
Cathleen RaggioDepartment of Orthopedic Surgery, Hospital for Special Surgery, New York, NY, USA.
Samantha S SpencerDepartment of Orthopedic Surgery, Boston Children's Hospital, Boston, MA, USA.
Klane K WhiteDepartment of Orthopedics and Sports Medicine, Seattle Children's Hospital, University of Washington, Seattle, WA, USA.
Skeletal Dysplasia Management Consortium

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeSkeletal dysplasias comprise a heterogeneous group of inherited disorders of development, growth, and maintenance of the human skeleton. Because of their relative rarity and wide phenotypic variability, patients should be accurately identified, uniformly assessed, and managed by clinicians who are aware of their potential complications and possess the knowledge and resources to treat them effectively. This study presents expert guidelines developed to improve the diagnosis and management of patients with type II collagen skeletal disorders to optimize clinical outcomes.

methodsA panel of 11 multidisciplinary international experts in the field of skeletal dysplasia participated in a Delphi process, which comprised analysis of a thorough literature review with subsequent generation of 26 diagnosis and care recommendations, followed by two rounds of anonymous voting with an intervening face-to-face meeting. Those recommendations with more than 80% agreement were considered as consensual.

resultsAfter the first voting round, consensus was reached to support 12 of 26 (46%) statements. After the panel discussion, the group reached consensus on 22 of 24 revised statements (92%).

conclusionsConsensus-based, expert best practice guidelines developed as a standard of care to assist accurate diagnosis, minimize associated health risks, and improve clinical outcomes for patients with type II collagen skeletal dysplasias.

Indexed as

Collagen Type IIDisease ManagementHumansMusculoskeletal AbnormalitiesPractice Guidelines as TopicCollagen Type IIbest practice guidelinesDelphi processmanagementskeletal dysplasiatype II collagen disorder

Identifiers

PMID30696995

What OpenQuestion holds

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Registered trials

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.