Abstract
Background: Implementation of guidelines and assessment of their adaptation is not an extensively investigated process in the field of rare diseases. However, whether targeted recipients are reached and willing and able to follow the recommendations has significant impact on the efficacy of guidelines. In 2012, a guideline for the management of urea cycle disorders (UCDs) has been published. We evaluate the efficacy of implementation, adaptation, and use of the UCD guidelines by applying different strategies.
Methods: (i) Download statistics from online sources were recorded. (ii) Facilities relevant for the implementation of the guidelines were assessed in pediatric units in Germany and Austria. (iii) The guidelines were evaluated by targeted recipients using the AGREE instrument. (iv) A regional networking-based implementation process was evaluated.
Results: (i) Download statistics revealed high access with an increase in downloads over time. (ii) In 18% of hospitals ammonia testing was not available 24/7, and emergency drugs were often not available. (iii) Recipient criticism expressed in the AGREE instrument focused on incomplete inclusion of patients’ perspectives. (iv) The implementation process improved the availability of ammonia measurements and access to emergency medication, patient care processes, and cooperation between nonspecialists and specialists.
Conclusion: Interest in the UCD guidelines is high and sustained, but more precise targeting of the guidelines is advisable. Surprisingly, many hospitals do not possess all facilities necessary to apply the guidelines. Regional network and awareness campaigns result in the improvement of both facilities and knowledge.
Competing interests: None declared
On behalf of the working group for the “European guidelines for the diagnosis and management of urea cycle disorders,” further members of this working group are Nathalie Boddaert, Alberto Burlina, Anupam Chakrapani, Carlo Dionisi-Vici, Marjorie Dixon, Daniela Karall, Martin Lindner, Diego Martinelli, Vicente Rubio, Pablo Sanjurjo Crespo, René Santer, Aude Servais, and Vassili Valayannopoulos.
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References
Arnold GL, Koeberl DD, Matern D et al (2008) A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Mol Genet Metab 93:363–370
Arnold GL, Van Hove J, Freedenberg D et al (2009) A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab 96:85–90
Burgers JS, Fervers B, Haugh M, Brouwers M, Browman G, Philip T, Cluzeau FA (2004) International assessment of the quality of clinical practice guidelines in oncology using the Appraisal of Guidelines and Research and Evaluation Instrument. J Clin Oncol 22:2000–2007
Gross PA, Greenfield S, Cretin S et al (2001) Optimal methods for guideline implementation: conclusions from Leeds Castle meeting. Med Care 39:II85–II92
Häberle J, Boddaert N, Burlina A et al (2012) Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis 7:32
Heringer J, Boy SP, Ensenauer R et al (2010) Use of guidelines improves the neurological outcome in glutaric aciduria type I. Ann Neurol 68:743–752
Kishnani PS, Austin SL, Arn P et al (2010) Glycogen storage disease type III diagnosis and management guidelines. Genet Med 12:446–463
Knai C, Brusamento S, Legido-Quigley H et al (2012) Systematic review of the methodological quality of clinical guideline development for the management of chronic disease in Europe. Health Policy 107:157–167
Kölker S, Christensen E, Leonard JV et al (2011a) Diagnosis and management of glutaric aciduria type I–revised recommendations. J Inherit Metab Dis 34:677–694
Kölker S, Dobbelaere D, Chakrapani A et al (2011b) European registry and network for intoxication type metabolic diseases (E-IMD) (Abstract). J Inher Metab Dis 34:S93
Legido-Quigley H, Panteli D, Brusamento S et al (2012) Clinical guidelines in the European Union: mapping the regulatory basis, development, quality control, implementation and evaluation across member states. Health Policy 107:146–156
Spiekerkoetter U, Lindner M, Santer R et al (2009) Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop. J Inherit Metab Dis 32:498–505
Tuchman M, Lee B, Lichter-Konecki U et al (2008) Cross-sectional multicenter study of patients with urea cycle disorders in the United States. Mol Genet Metab 94:397–402
Vergano SA, Crossette JM, Cusick FC, Desai BR, Deardorff MA, Sondheimer N (2013) Improving surveillance for hyperammonemia in the newborn. Mol Genet Metab 110:102–105
Vockley J, Chapman KA, Arnold GL (2013) Development of clinical guidelines for inborn errors of metabolism: commentary. Mol Genet Metab 108:203–205
Acknowledgment
The development and distribution of the European guidelines for the diagnosis and management of urea cycle disorders were supported by the Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen, the Deutsche Gesellschaft für Kinder- und Jugendmedizin, CIBERER, and by Nutricia Italia, Orphan Europe Recordati and Swedish Orphan International. The authors however confirm full independence from the aforementioned sponsors who did not influence the guideline development at any stage. The work on urea cycle disorders is supported by the Swiss National Science Foundation (grants 310030_127184 and 310030_153196 to JH). Both authors are members of E-IMD, the EU-funded “European registry and network for intoxication type metabolic diseases.” The authors further thank S. Bucher from the AWMF-Institut, Marburg, Germany, for her kind support.
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Communicated by: Jerry Vockley, M.D., Ph.D.
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Johannes Häberle and Martina Huemer declare that they have no conflict of interest.
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J. Häberle and M. Huemer have together planned and performed the conception, design, analysis, and interpretation of data and drafted the article and revised it.
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Häberle, J., Huemer, M. (2014). Evaluation of Implementation, Adaptation and Use of the Recently Proposed Urea Cycle Disorders Guidelines. In: Zschocke, J., Baumgartner, M., Morava, E., Patterson, M., Rahman, S., Peters, V. (eds) JIMD Reports, Volume 21. JIMD Reports, vol 21. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2014_387
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DOI: https://doi.org/10.1007/8904_2014_387
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