RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases

Taruscio, Domenica; Morciano, Cristina; Laricchiuta, Paola; Mincarone, Pierpaolo; Palazzo, Fiorentina; Leo, Carlo Giacomo; Sabina, Saverio; Guarino, Richard A.; Auld, J; Sejersen, Thomas; Gavhed, Désirée; Ritchie, Karen; Boon, Michele Hilton; Manson, Jan; Kanavos, P.; Tordrup, David; Tzouma, Victoria; Cam, Yann Le; Senecat, Juliette; Filippini, Graziella; Giovane, Cinzia Del; Meerpohl, Joerg J; Prediger, Barbara; Schell, Lisa K; Стефанов, Румен; Искров, Георги; Митева-Катранджиева, Цонка; Serrano‐Aguilar, Pedro; Perestelo-Pérez, Lilisbeth; Trujillo-Martín, MM; Pérez-Ramos, José G.; Rivero‐Santana, Amado; Brand, Angela; Kranen, Henk van; Bushby, K.; Atalaia, António; Ramet, José; Siderius, Liesbeth; Paz, Manuel Posada de la; Abaitua-Borda, Ignacio; Alonso-Ferreira, Verónica; Hens-Pérez, Manuel; Manzanares, FJ

doi:10.1186/1750-1172-9-s1-o14

Cited by 6 publications

(6 citation statements)

References 8 publications

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“…RARE-BestPractices is an EU-funded project aiming to create a platform to share management guidelines for RDs [34]. It also aims at training stakeholders to produce and evaluate CPGs.…”

Section: Discussionmentioning

confidence: 99%

Clinical Practice Guidelines for Rare Diseases: The Orphanet Database

et al. 2017

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Clinical practice guidelines (CPGs) for rare diseases (RDs) are scarce, may be difficult to identify through Internet searches and may vary in quality depending on the source and methodology used. In order to contribute to the improvement of the diagnosis, treatment and care of patients, Orphanet (www.orpha.net) has set up a procedure for the selection, quality evaluation and dissemination of CPGs, with the aim to provide easy access to relevant, accurate and specific recommendations for the management of RDs. This article provides an analysis of selected CPGs by medical domain coverage, prevalence of diseases, languages and type of producer, and addresses the variability in CPG quality and availability. CPGs are identified via bibliographic databases, websites of research networks, expert centres or medical societies. They are assessed according to quality criteria derived from the Appraisal of Guidelines, REsearch and Evaluation (AGREE II) Instrument. Only open access CPGs and documents for which permission from the copyright holders has been obtained are disseminated on the Orphanet website. From January 2012 to July 2015, 277 CPGs were disseminated, representing coverage of 1,122 groups of diseases, diseases or subtypes in the Orphanet database. No language restriction is applied, and so far 10 languages are represented, with a predominance of CPGs in English, French and German (92% of all CPGs). A large proportion of diseases with identified CPGs belong to rare oncologic, neurologic, hematologic diseases or developmental anomalies. The Orphanet project on CPG collection, evaluation and dissemination is a continuous process, with regular addition of new guidelines, and updates. CPGs meeting the quality criteria are integrated to the Orphanet database of rare diseases, together with other types of textual information and the appropriate services for patients, researchers and healthcare professionals in 40 countries.

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“…RARE-BestPractices is an EU-funded project aiming to create a platform to share management guidelines for RDs [34]. It also aims at training stakeholders to produce and evaluate CPGs.…”

Section: Discussionmentioning

confidence: 99%

Clinical Practice Guidelines for Rare Diseases: The Orphanet Database

et al. 2017

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“…The development of best standards and commonly-approved procedures is urgently needed for all rare diseases ( www.rarebestpractices.eu ) [ 51 ]. Indeed, scientific advances on r(14) syndrome and treatment of affected people are the two primary aims in establishing evidence-based guidelines dedicated to clinicians and caregivers.…”

Section: Discussionmentioning

confidence: 99%

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force

Rinaldi

Vaisfeld

Amarri

et al. 2017

Orphanet J Rare Dis

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BackgroundRing chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism spectrum disorder and a number of diverse health issues.ResultsThe aim of this work is to provide recommendations for the diagnosis and management of persons affected by ring chromosome 14 syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years subjects affected by ring chromosome 14 syndrome. The literature search was performed in 2016. Original papers, meta-analyses, reviews, books and guidelines were reviewed and final recommendations were reached by consensus.ConclusionConventional cytogenetics is the primary tool to identify a ring chromosome. Children with a terminal deletion of chromosome 14q ascertained by molecular karyotyping (CGH/SNP array) should be tested secondarily by conventional cytogenetics for the presence of a ring chromosome. Early diagnosis should be pursued in order to provide medical and social assistance by a multidisciplinary team. Clinical investigations, including neurophysiology for epilepsy, should be performed at the diagnosis and within the follow-up. Following the diagnosis, patients and relatives/caregivers should receive regular care for health and social issues. Epilepsy should be treated from the onset with anticonvulsive therapy. Likewise, feeding difficulties should be treated according to need. Nutritional assessment is recommended for all patients and nutritional support for malnourishment can include gastrostomy feeding in selected cases. Presence of autistic traits should be carefully evaluated. Many patients with ring chromosome 14 syndrome are nonverbal and thus maintaining their ability to communicate is always essential; every effort should be made to preserve their autonomy.

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“…The overall prevalence of SCD per 10,000 live births is approximately 30 in African Americans, 0.1 in Caucasian Americans, and 0.3 in Hispanic Americans [30]. In 2016, the European RARE-Bestpractices project (funded by the European Union Commission) organized a group that partnered with the GRADE Centers from American University of Beirut and McMaster Univerisity to produce guidelines exploring diagnostic and therapeutic questions in sickle cell disease [31]. This project’s methods were based on the GRADE and GRADE Adolopment approaches [32, 33].…”

Section: Methodsmentioning

confidence: 99%

Strategies for eliciting and synthesizing evidence for guidelines in rare diseases

Pai

Yeung

Akl

et al. 2019

BMC Med Res Methodol

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Background Rare diseases are a global public health priority. Though each disease is rare, when taken together the thousands of known rare diseases cause significant morbidity and mortality, impact quality of life, and confer a social and economic burden on families and communities. These conditions are, by their nature, encountered very infrequently by individual clinicians, who may feel unprepared to address their diagnosis and treatment. Clinical practice guidelines are necessary to support clinical and policy decisions. However, creating guidelines for rare diseases presents specific challenges, including a paucity of high certainty evidence to inform panel recommendations. Methods This paper draws from the authors’ experience in the development of clinical practice guidelines for three rare diseases: hemophilia, sickle cell disease, and catastrophic antiphospholipid syndrome. Results We have summarized a number of strategies for eliciting and synthesizing evidence that are compatible with the rigorous, internationally accepted standards for guideline development set out by the Grading of Recommendations Assessment, Development and Evaluation (GRADE) system. These strategies include: use of pre-existing and ad hoc qualitative research, use of systematic observation forms, use of registry data, and thoughtful use of indirect evidence. Their use in three real guideline development efforts, as well as their theoretical underpinnings, are discussed. Avenues for future research to improve clinical practice guideline creation for rare diseases – and any disease affected by a relative lack of evidence - are also identified. Conclusions Rigorous clinical practice guidelines are needed to improve the care of the millions of people worldwide who suffer from rare diseases. Innovative evidence elicitation and synthesis methods will benefit not only the rare disease community, but also individuals with common diseases who have rare presentations, suffer rare complications, or require nascent therapies. Further refinement and improved uptake of these innovative methods should lead to higher quality clinical practice guidelines in rare diseases.

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RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases

Cited by 6 publications

References 8 publications

Clinical Practice Guidelines for Rare Diseases: The Orphanet Database

Clinical Practice Guidelines for Rare Diseases: The Orphanet Database

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force

Strategies for eliciting and synthesizing evidence for guidelines in rare diseases

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