{"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\/de\/our-workgroups\/guidelines-consensus\/","title":{"rendered":"Leitlinien und Konsens (AG 11)"},"content":{"rendered":"

Vorsitzender und stellvertretender Vorsitzender der Arbeitsgruppe <\/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

Leitlinien f\u00fcr die klinische Praxis <\/strong>(CPGs) \u2013 oder einfach \u201eLeitlinien\u201c \u2013 sind Empfehlungen zur Diagnose und Behandlung einer Erkrankung. Sie werden von medizinischen Experten unter Einbeziehung von Patientenvertretern verfasst und richten sich an \u00c4rzte, aber auch an Pflegekr\u00e4fte und andere Fachkr\u00e4fte im Gesundheitswesen.  <\/p>\n\n\n\n

Eine Leitlinie fasst den aktuellen Stand der medizinischen Erkenntnisse zu einer bestimmten Erkrankung zusammen, w\u00e4gt Nutzen und Risiken von Diagnoseverfahren und Behandlungen ab und gibt auf der Grundlage dieser Informationen konkrete Empfehlungen. <\/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
Syndrom<\/div>
April 2018<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
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Valproat
Embryopathie<\/div>
Oktober 2018<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
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Cornelia de Lange
Syndrom<\/div>
Juli 2019<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n<\/div>\n\n\n\n
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Phelan-McDermid
Syndrom<\/div>
Mai 2023<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
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Rubinstein-Taybi
Syndrom<\/div>
Mai 2024<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
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Spinal dysraphisms in children & adolescents<\/div>
Februar 2025<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n<\/div>\n\n\n\n
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\u00dcbergang
of care<\/div>
November 2025<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
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Kleefstra Syndrome<\/div>
Januar 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