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.

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.)