Ein strukturierter Versorgungspfad von der Pädiatrie in die Erwachsenenmedizin für Jugendliche und junge Erwachsene mit einer seltenen Erkrankung

Grasemann, Corinna; Matar, Nora; Bauer, Jens; Manka, Eva; Mundlos, Christine; Krude, Heiko; Grüters, Annette; Hoffmann, Georg F.; Choukair, Daniela; Burgard, Peter

doi:10.1007/s00112-020-00929-5

Cited by 12 publications

(9 citation statements)

References 19 publications

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“…Further, national clinical workflows for diagnosis and care of RDs were generated [20]. The project also invested in improving the transition from pediatrics to adult care and in creating clinical pathways for selected groups of RDs [21].…”

Section: Translate-namsementioning

confidence: 99%

Precision medicine in rare diseases: What is next?

et al. 2023

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Molecular diagnostics is a cornerstone of modern precision medicine, broadly understood as tailoring an individual's treatment, follow‐up, and care based on molecular data. In rare diseases (RDs), molecular diagnoses reveal valuable information about the cause of symptoms, disease progression, familial risk, and in certain cases, unlock access to targeted therapies. Due to decreasing DNA sequencing costs, genome sequencing (GS) is emerging as the primary method for precision diagnostics in RDs. Several ongoing European initiatives for precision medicine have chosen GS as their method of choice. Recent research supports the role for GS as first‐line genetic investigation in individuals with suspected RD, due to its improved diagnostic yield compared to other methods. Moreover, GS can detect a broad range of genetic aberrations including those in noncoding regions, producing comprehensive data that can be periodically reanalyzed for years to come when further evidence emerges. Indeed, targeted drug development and repurposing of medicines can be accelerated as more individuals with RDs receive a molecular diagnosis. Multidisciplinary teams in which clinical specialists collaborate with geneticists, genomics education of professionals and the public, and dialogue with patient advocacy groups are essential elements for the integration of precision medicine into clinical practice worldwide. It is also paramount that large research projects share genetic data and leverage novel technologies to fully diagnose individuals with RDs. In conclusion, GS increases diagnostic yields and is a crucial step toward precision medicine for RDs. Its clinical implementation will enable better patient management, unlock targeted therapies, and guide the development of innovative treatments.

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Section: Translate-namsementioning

confidence: 99%

Precision medicine in rare diseases: What is next?

et al. 2023

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“…starting at age 14 years) and organised as a continuous and interdisciplinary process. In Germany, Austria and Switzerland, transitional care concepts for rare diseases are increasingly being developed in which adult internal specialists initially see affected individuals together with the paediatric treatment team, and later on independently 221 . If supervision by adult specialists is not possible, follow‐up should be continued by the paediatric metabolic centre.…”

Section: Medical Health Care Proceduresmentioning

confidence: 99%

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

Boy

Mühlhausen²,

Maier

et al. 2022

J of Inher Metab Disea

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Glutaric aciduria type 1 is a rare inherited neurometabolic disorder of lysine metabolism caused by pathogenic gene variations in GCDH (cytogenic location: 19p13.13), resulting in deficiency of mitochondrial glutaryl-CoA dehydrogenase (GCDH) and, consequently, accumulation of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid and glutarylcarnitine detectable by gas chromatography/mass spectrometry (organic acids) and tandem mass spectrometry (acylcarnitines). Depending on residual GCDH activity, biochemical high and low excreting phenotypes have been defined. Most untreated individuals present with acute onset of striatal damage before age 3 (to 6) years, precipitated by infectious diseases, fever or surgery, resulting in irreversible, mostly dystonic movement disorder with limited life expectancy. In some patients, striatal damage develops insidiously. In recent years, the clinical phenotype has been extended by the finding of extrastriatal abnormalities and cognitive dysfunction, preferably in the high excreter group, as well as chronic kidney failure. Newborn screening is the prerequisite for pre-symptomatic start of metabolic treatment with low lysine diet, carnitine supplementation and For affiliation refer to page 29

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“…Außerdem wurden Patienten ab einem Alter von 16 Jahren in die Erwachsenenmedizin weitergeleitet (sog. Transition; [ 12 ]).…”

Section: Translate-namseunclassified

Praxiseinsatz Elektronischer Patientenakten: Erkenntnisse aus 2 Versorgungsprojekten in Zentren für Seltene Erkrankungen

Rashid

Choukair²,

Bauer

et al. 2022

Bundesgesundheitsbl

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ZusammenfassungElektronische Patientenakten (EPA) bieten zahlreiche Chancen für die digitale Vernetzung der Leistungserbringer untereinander und für die digitale Kommunikation mit den Patienten. Für Menschen mit Seltenen Erkrankungen (SE) können sich dadurch verschiedene Vorteile ergeben, wie eine frühere Diagnose und eine gezieltere Behandlung z. B. auf Grundlage eines multiprofessionellen Fallmanagements. Für die Patientenversorgung und Forschung bei Seltenen Erkrankungen kann eine EPA die Daten der Patienten strukturiert erfassen und darauf aufbauend die Arbeitsabläufe von der Anmeldung über die Aufnahme bis zu Behandlung und Monitoring digital abbilden. Für das Gesundheitswesen erhofft man sich durch EPA eine Kostenersparnis, da Diagnose- und Behandlungsprozesse zielgerichteter angeboten und unnötige Untersuchungen und Termine reduziert werden können.In 2 Pilotprojekten konnten erste Erfahrungen mit EPA für Menschen mit Seltenen Erkrankungen gesammelt werden. Die Projekte „BASE-Netz“ und „TRANSLATE-NAMSE“ haben in Zusammenarbeit mit mehreren Leistungserbringern die Anforderungen an eine EPA erfasst, die technische und rechtliche Machbarkeit aufgezeigt und die Praktikabilität für Leistungserbringer und Patienten untersucht. Während die Patienten überwiegend positive Resonanz zeigten, erwies sich die Anbindung der niedergelassenen Arztpraxen als Herausforderung. Vereinfachend könnte hierbei zukünftig der Ausbau der Telematikinfrastruktur wirken. Unerlässlich sind stetige Aufklärungen und Transparenz, um insbesondere über datenschutzrechtliche Fragen zu informieren. Auch sollten Schulungen und Unterstützung angeboten werden, um die digitalen Kompetenzen der Patienten zu fördern.

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Ein strukturierter Versorgungspfad von der Pädiatrie in die Erwachsenenmedizin für Jugendliche und junge Erwachsene mit einer seltenen Erkrankung

Cited by 12 publications

References 19 publications

Precision medicine in rare diseases: What is next?

Precision medicine in rare diseases: What is next?

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

Praxiseinsatz Elektronischer Patientenakten: Erkenntnisse aus 2 Versorgungsprojekten in Zentren für Seltene Erkrankungen

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