{"id":1608,"date":"2022-03-11T15:44:12","date_gmt":"2022-03-11T14:44:12","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?page_id=1608"},"modified":"2026-02-02T09:09:53","modified_gmt":"2026-02-02T08:09:53","slug":"guidelines-consensus","status":"publish","type":"page","link":"https:\/\/ern-ithaca.eu\/it\/our-workgroups\/guidelines-consensus\/","title":{"rendered":"Linee guida e consenso (WG11)"},"content":{"rendered":"

Presidente e copresidente del gruppo di lavoro <\/h2>\n\n\n\n
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Dr Agnies van Eeghen<\/strong>
(Amsterdam)<\/p>\n<\/div>\n\n\n\n

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Dr. Katalin<\/strong><\/strong> Szakszon<\/strong><\/strong><\/strong>
(Debrecen)<\/p>\n<\/div>\n<\/div>\n\n\n\n

Linee guida per la pratica clinica <\/strong>Le linee guida cliniche (CPG), o semplicemente \u201clinee guida\u201d, sono raccomandazioni su come diagnosticare e trattare una patologia. Sono redatte da esperti del settore medico con il supporto dei rappresentanti dei pazienti e sono rivolte ai medici, ma anche agli infermieri e a qualsiasi altro operatore sanitario.  <\/p>\n\n\n\n

Una linea guida riassume le attuali conoscenze mediche su una determinata malattia, valuta i benefici e i rischi delle procedure diagnostiche e dei trattamenti e fornisce raccomandazioni specifiche sulla base di tali informazioni. <\/p>\n\n\n\n

As knowlege on rare diseases is by definition scarce and scattered, which results in late diagnosis for patients and difficulty in determining appropriate care solutions, the production of guidelines on low prevalence conditions is at the core of an ERN activity. <\/strong><\/p>\n\n\n\n

This Worksgroup is committed to both reviewing existing guidelines on rare congenital malformations and writing new ones from scratch. It also works on developping a guideline methodology specific to rare diseases in the scope of ITHACA, and on making easy-to-understand guidelines available for patients. <\/p>\n\n\n\n

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Production of new Clinical Practice Guidelines <\/h2>\n\n\n\n

Each guideline is written by a group of multidisciplinary experts, with the support of patient\u2019s representatives. So far, the Workgroup has convened 13 expert groups to write guidelines for rare congenital malformations. <\/p>\n\n\n\n

6 guidelines for rare conditions have already been published: <\/strong><\/p>\n\n\n\n

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Beckwith-Wiedemann
syndrome<\/div>
April 2018<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
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Valproate
embryopathy<\/div>
October 2018<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
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Cornelia de Lange
syndrome<\/div>
July 2019<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n<\/div>\n\n\n\n
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Phelan-McDermid
syndrome<\/div>
May 2023<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
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Rubinstein-Taybi
syndrome<\/div>
May 2024<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
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Spinal dysraphisms in children & adolescents<\/div>
February 2025<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n<\/div>\n\n\n\n
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Transition
of care<\/div>
November 2025<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
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Kleefstra Syndrome<\/div>
January 2026<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
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6 more are currently under work: \u00a0<\/strong><\/p>\n\n\n\n