Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases.

Autor: Bouchereau J; Centre de référence des maladies héréditaires du métabolisme, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Institut Imagine, Université Paris Cité, 75015 Paris, France; Filière nationale de santé maladies rares G2M-Maladies Héréditaires du Métabolisme, France; MetabERN: European Reference Network for Rare Hereditary Metabolic Disorders, France., Wicker C; Filière nationale de santé maladies rares G2M-Maladies Héréditaires du Métabolisme, France; Centre de compétence des maladies héréditaires du métabolisme, Hôpital Universitaire de Strasbourg, Strasbourg, France., Mention K; Filière nationale de santé maladies rares G2M-Maladies Héréditaires du Métabolisme, France; MetabERN: European Reference Network for Rare Hereditary Metabolic Disorders, France; Centre de référence des maladies héréditaires du métabolisme, Hôpital Universitaire Jeanne de Flandre, Lille, France., Marbach C; Centre de référence des maladies héréditaires du métabolisme, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Institut Imagine, Université Paris Cité, 75015 Paris, France; Filière nationale de santé maladies rares G2M-Maladies Héréditaires du Métabolisme, France; MetabERN: European Reference Network for Rare Hereditary Metabolic Disorders, France., Do Cao J; Filière nationale de santé maladies rares G2M-Maladies Héréditaires du Métabolisme, France; MetabERN: European Reference Network for Rare Hereditary Metabolic Disorders, France; Centre de référence des maladies héréditaires du métabolisme hépatique, Université Paris-Saclay, Hôpital Antoine Béclère, Assistance Publique-Hôpitaux de Paris (AP-HP), Clamart, France., Berat CM; Centre de référence des maladies héréditaires du métabolisme, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Institut Imagine, Université Paris Cité, 75015 Paris, France; Filière nationale de santé maladies rares G2M-Maladies Héréditaires du Métabolisme, France; MetabERN: European Reference Network for Rare Hereditary Metabolic Disorders, France., Jaroussie M; Centre de référence des maladies héréditaires du métabolisme, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Institut Imagine, Université Paris Cité, 75015 Paris, France., Cano A; Filière nationale de santé maladies rares G2M-Maladies Héréditaires du Métabolisme, France; MetabERN: European Reference Network for Rare Hereditary Metabolic Disorders, France; Centre de référence des maladies héréditaires du métabolisme, Hôpital Universitaire La Timone, Marseille, France., Gorce M; Filière nationale de santé maladies rares G2M-Maladies Héréditaires du Métabolisme, France; Centre de référence des maladies héréditaires du métabolisme, Hôpital Universitaire de Toulouse, Toulouse, France., Garros A; Filière nationale de santé maladies rares G2M-Maladies Héréditaires du Métabolisme, France; Centre de compétence des maladies héréditaires du métabolisme, Hôpital Universitaire Grenoble Alpes, Grenoble, France., Kuster A; Centre de compétence des maladies héréditaires du métabolisme, Hôpital Universitaire de Nantes, Nantes, France., Hoebeke C; MetabERN: European Reference Network for Rare Hereditary Metabolic Disorders, France; Centre de référence des maladies héréditaires du métabolisme, Hôpital Universitaire La Timone, Marseille, France., Mayer C; Centre de référence des maladies héréditaires du métabolisme, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Institut Imagine, Université Paris Cité, 75015 Paris, France; Filière nationale de santé maladies rares G2M-Maladies Héréditaires du Métabolisme, France; MetabERN: European Reference Network for Rare Hereditary Metabolic Disorders, France., Brassier A; Centre de référence des maladies héréditaires du métabolisme, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Institut Imagine, Université Paris Cité, 75015 Paris, France; Filière nationale de santé maladies rares G2M-Maladies Héréditaires du Métabolisme, France; MetabERN: European Reference Network for Rare Hereditary Metabolic Disorders, France., Gouya L; Centre de référence des Porphyries, Hôpital Universitaire Louis Mourier, Assistance Publique-Hôpitaux de Paris (AP-HP), Colombes, Université Paris Cité, UMR1149 INSERM, Centre de Recherche Sur L'Inflammation (CRI), Bichat, Laboratoire d'Excellence, GR-Ex, Paris, France., Schrimpf C; Service des urgences, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Université Paris Cité, 75015 Paris, France., Arnoux JB; Centre de référence des maladies héréditaires du métabolisme, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Institut Imagine, Université Paris Cité, 75015 Paris, France; Filière nationale de santé maladies rares G2M-Maladies Héréditaires du Métabolisme, France; MetabERN: European Reference Network for Rare Hereditary Metabolic Disorders, France., Schiff M; Centre de référence des maladies héréditaires du métabolisme, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Institut Imagine, Université Paris Cité, 75015 Paris, France; Filière nationale de santé maladies rares G2M-Maladies Héréditaires du Métabolisme, France; MetabERN: European Reference Network for Rare Hereditary Metabolic Disorders, France; INSERM UMR1163, Institut Imagine, Paris, France., Acquaviva-Bourdain C; MetabERN: European Reference Network for Rare Hereditary Metabolic Disorders, France; Service de Biochimie et Biologie Moléculaire, Unité Médicale Pathologies Héréditaires du Métabolisme et du Globule Rouge, Centre de Biologie et Pathologie Est, CHU de Lyon, 69500 Bron, France., Benoist JF; MetabERN: European Reference Network for Rare Hereditary Metabolic Disorders, France; Laboratoire de biochimie métabolique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Université Paris-Saclay, Paris, France., Courapied S; Filière nationale de santé maladies rares G2M-Maladies Héréditaires du Métabolisme, France; MetabERN: European Reference Network for Rare Hereditary Metabolic Disorders, France., Broué P; Filière nationale de santé maladies rares G2M-Maladies Héréditaires du Métabolisme, France; Centre de référence des maladies héréditaires du métabolisme, Hôpital Universitaire de Toulouse, Toulouse, France., Oualha M; Filière nationale de santé maladies rares G2M-Maladies Héréditaires du Métabolisme, France; Service de réanimation et surveillance continue médico-chirurgicales pédiatriques, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Université Paris Cité, 75015 Paris, France., Douillard C; Filière nationale de santé maladies rares G2M-Maladies Héréditaires du Métabolisme, France; MetabERN: European Reference Network for Rare Hereditary Metabolic Disorders, France; Centre de référence des maladies héréditaires du métabolisme, Hôpital Universitaire Jeanne de Flandre, Lille, France., de Lonlay P; Centre de référence des maladies héréditaires du métabolisme, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Institut Imagine, Université Paris Cité, 75015 Paris, France; Filière nationale de santé maladies rares G2M-Maladies Héréditaires du Métabolisme, France; MetabERN: European Reference Network for Rare Hereditary Metabolic Disorders, France; INSERM, Institut Necker-Enfants Malades, 75015 Paris, France. Electronic address: pdelonlay@gmail.com.
Jazyk: angličtina
Zdroj: Molecular genetics and metabolism [Mol Genet Metab] 2024 Sep-Oct; Vol. 143 (1-2), pp. 108579. Date of Electronic Publication: 2024 Sep 14.
DOI: 10.1016/j.ymgme.2024.108579
Abstrakt: Objectives: Patients with inherited metabolic disorders (IMDs) may require emergency hospital care to prevent life-threatening situations such as metabolic decompensation. To date, over one thousand different rare IMDs have been identified, which means that healthcare professionals (HCPs) initiating emergency treatment may not be familiar with these conditions. The objective of this initiative was to provide HCPs with practical guidance for the acute management of children and adults with IMDs who need emergency care, regardless of the underlying reason.
Methods: We outline how a multidisciplinary working group from the French IMDs Healthcare Network for Rare Diseases, known as G2M, has created concise and standardized protocols _each consisting of a single double-sided A4 sheet _ focused on a specific disease, a group of diseases, or a particular symptom. Prior to validation, these protocols were reviewed by all French reference and competence centres for IMDs, as well as by medical experts from other specialities when necessary, physicians from emergency and intensive care units, and representatives from patient associations.
Results and Conclusion: In total, 51 emergency protocols containing essential information have been developed and provided to affected patients. All the emergency protocols are freely available in both French and English at https://www.filiere-g2m.fr/urgences. These standardized protocols aim to enhance the emergency care of patients without delay, while also assisting HCPs by increasing their confidence and efficiency, minimizing the risk of dosage errors when administering specialized treatments, saving time, and reducing the number of phone calls to metabolic medicine specialists on night duty. The protocols are scheduled for annual review to facilitate further improvements based on feedback from HCPs and patients, as well as to accommodate any changes in management practices as they evolve.
Competing Interests: Declaration of competing interest The authors declare no conflicts of interest related to the content of this manuscript. Within the past 36 months, outside of the submitted work: Juliette Bouchereau reports support for attending a meeting from Ultragenyx; Karine Mention reports a research contract with Sanofi, fees for lectures from Sanofi and Chiesi, and participation in a Board for Chiesi; Jérémy Do Cao reports support for attending a meeting and fees for a presentation at this meeting, both from Sanofi Rare Diseases; Aline Cano reports fees for presentations from Sanofi and Genzyme, honorarium for participation in a Scientific Board from Sanofi, and medical writing fees from Nutricia; Célia Hoebeke reports registration and presentation fees from BioMarin for a meeting, registration fees from Sanofi Aventis France, and a meal offered by Orphalan during another meeting; Anaïs Brassier reports fees for lectures from Sanofi and BioMarin, support for attending meetings from Sanofi, and participation in an Advisory Board for Sanofi; Laurent Gouya reports having participated for free in a Scientific Committee for Alnylam Pharmaceuticals and in the IPNET Executive Board, and having been Chairman of the GenOmics Committee of Foundation For Rare Diseases (FFRD, Fondation Maladies Rares); Jean-Baptiste Arnoux reports fees for lectures from Sanofi and Recordati, consulting fees from Sobi, Immedica pharma and Zealand pharma, and support for attending meetings from Immedica pharma; Cécile Acquaviva-Bourdain reports consulting fees from Alnylam Pharmaceuticals, Ultragenix, and Novodordisk, and fees for lectures from Alnylam Pharmaceuticals; Pierre Broué reports payments to the institution that employs him from Mirium Pharma, and personal fees for Advisory Boards from Mirum Pharma and Albireo AB; Claire Douillard reports grants from Sanofi and Ultragenyx, fees for a presentation from Alnylam Pharmaceuticals, and support for attending a meeting from Sanofi.
(Copyright © 2024. Published by Elsevier Inc.)
Databáze: MEDLINE
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