Publications and Guidelines

HOW TO ACKNOWLEDGE METABERN IN RELEVANT PUBLICATIONS

MetabERN Full Members and Affiliated partners are invited to include the MetabERN acknowledgement and logo in presentations, publications, posters, and other communications. Including the acknowledgement and the logo are necessary to account for the activities in the continuous monitoring system and future evaluation.

Situation	Examples of MetabERN Acknowledgement
A general option that members can use regardless of there being 2 or more HCPS involved. This gives attention to the existence of MetabERN without it acknowledging any direct input from it.	“The/One of the/Several author(s) of this publication is/are (a) member(s) of the European Reference Network for Hereditary Metabolic Disorders (MetabERN).”
An option that an HCP can choose to add if the work has come into being by the efforts carried out by at least 2 or more MetabERN members from 2 different Member States.	“This work was generated within the framework of the European Reference Network for Hereditary Metabolic Disorders (MetabERN).”
If funding is allocated to a publication/project.	Please get in contact with the Coordination Office to request the proper acknowledgement.

Publications

Rare disease education in Europe and beyond: time to act

Citation: Tumiene B, Peters H, Melegh B, Peterlin B, Utkus A, Fatkulina N, Pfliegler G, Graessner H, Hermanns S, Scarpa M, Blay JY, Ashton S, McKay L, Baynam G. Rare disease education in Europe and beyond: time to act. Orphanet journal of rare diseases. 2022; 17(1):441. https://doi.org/10.1186/s13023-022-02527-y.

Towards Achieving Equity and Innovation in Newborn Screening across Europe

Citation: Sikonja J, Groselj U, Scarpa M, la Marca G, Cheillan D, Kölker S, Zetterström RH, Kožich V, Le Cam Y, Gumus G, Bottarelli V, van der Burg M, Dekkers E, Battelino T, Prevot J, Schielen PCJI, Bonham JR. Towards Achieving Equity and Innovation in Newborn Screening across Europe. International Journal of Neonatal Screening. 2022; 8(2):31. https://doi.org/10.3390/ijns8020031

One year of COVID-19: infection rates and symptoms in patients with inherited metabolic diseases followed by MetabERN

Citation: Paneghetti L, Bellettato CM, Sechi A, Stepien KM, Scarpa M. One year of COVID-19: infection rates and symptoms in patients with inherited metabolic diseases followed by MetabERN. Orphanet J Rare Dis. 2022;17(1):109. Published 2022 Mar 4. doi:10.1186/s13023-022-02247-3

Newborn screening as a fully integrated system to stimulate equity in neonatal screening in Europe

Citation: Scarpa M, Bonham JR, Dionisi-Vici C, Prevot J, Pergent M, Meyts I, Mahlaoui N, Schielen PCJI. Newborn screening as a fully integrated system to stimulate equity in neonatal screening in Europe. Lancet Reg Health Eur. 2022 Jan 28;13:100311. doi: 10.1016/j.lanepe.2022.100311. PMID: 35199083; PMCID: PMC8841274.

Social and medical needs of rare metabolic patients: results from a MetabERN survey

Citation: Sestini, S., Paneghetti, L., Lampe, C. et al. Social and medical needs of rare metabolic patients: results from a MetabERN survey. Orphanet J Rare Dis 16, 336 (2021). https://doi.org/10.1186/s13023-021-01948-5

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?

Citation: Čechová A, Honzík T, Edmondson AC, Ficicioglu C, Serrano M, Barone R, De Lonlay P, Schiff M, Witters P, Lam C, Patterson M, Janssen MCH, Correia J, Quelhas D, Sykut-Cegielska J, Plotkin H, Morava E, Sarafoglou K. Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency? Mol Genet Metab. 2021 Aug;133(4):397-399. doi: 10.1016/j.ymgme.2021.06.003. Epub 2021 Jun 11. PMID: 34140212.

Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria

Citation: Brennenstuhl H, Nashawi M, Schröter J, Baronio F, Beedgen L, Gleich F, Jeltsch K, von Landenberg C, Martini S, Simon A, Thiel C, Tsiakas K, Opladen T, Kölker S, Hoffmann GF, Haas D; Unified Registry for Inherited Metabolic Disorders (U-IMD) Consortium and the European Registry for Hereditary Metabolic Disorders (MetabERN). Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria. J Inherit Metab Dis. 2021 Sep;44(5):1272-1287. doi: 10.1002/jimd.12412. Epub 2021 Jun 28. PMID: 34145613.

OP0277-PARE METABERN, THE EUROPEAN REFERENCE NETWORK FOR RARE HEREDITARY DISEASES: STRUCTURE, OBJECTIVES, METABOLIC RMDS AND THE ROLES OF EUROPEAN PATIENT ADVOCACY GROUPS (EPAGS)

Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) – Case series

Citation: Zerjav Tansek M, Kodric J, Klemencic S, Boelens JJ, van Hasselt PM, Drole Torkar A, Doric M, Koren A, Avcin S, Battelino T, Groselj U. Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) – Case series. Mol Genet Metab Rep. 2021 Jun 26;28:100779. doi: 10.1016/j.ymgmr.2021.100779. PMID: 34258227; PMCID: PMC8251508.

Liver and/or kidney transplantation in amino and organic acid-related inborn errors of metabolism: An overview on European data

Citation: Molema F, Martinelli D, Hörster F, Kölker S, Tangeraas T, de Koning B, Dionisi-Vici C, Williams M; additional individual contributors of MetabERN. Liver and/or kidney transplantation in amino and organic acid-related inborn errors of metabolism: An overview on European data. J Inherit Metab Dis. 2021 May;44(3):593-605. doi: 10.1002/jimd.12318. Epub 2020 Oct 29. PMID: 32996606.

U-IMD: the first Unified European registry for inherited metabolic diseases

Citation: Opladen T, Gleich F, Kozich V, Scarpa M, Martinelli D, Schaefer F, Jeltsch K, Juliá-Palacios N, García-Cazorla Á, Dionisi-Vici C, Kölker S. U-IMD: the first Unified European registry for inherited metabolic diseases. Orphanet J Rare Dis. 2021 Feb 18;16(1):95. doi: 10.1186/s13023-021-01726-3. PMID: 33602304; PMCID: PMC7893973.

A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net

Citation: Rossi A, Hoogeveen IJ, Lubout CMA, de Boer F, Fokkert-Wilts MJ, Rodenburg IL, van Dam E, Grünert SC, Martinelli D, Scarpa M; CONNECT MetabERN Collaboration Group, Dekker H, Te Boekhorst ST, van Spronsen FJ, Derks TGJ. A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net. J Inherit Metab Dis. 2021 Apr 12. doi: 10.1002/jimd.12386. Epub ahead of print. PMID: 33844307.

Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey

Citation: Stepien KM, Kieć-Wilk B, Lampe C, Tangeraas T, Cefalo G, Belmatoug N, Francisco R, Del Toro M, Wagner L, Lauridsen AG, Sestini S, Weinhold N, Hahn A, Montanari C, Rovelli V, Bellettato CM, Paneghetti L, van Lingen C, Scarpa M. Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey. Front Med (Lausanne). 2021 Feb 25;8:652358. doi: 10.3389/fmed.2021.652358. PMID: 33738294; PMCID: PMC7962750.

European Reference Networks: challenges and opportunities

Citation: Tumiene B, Graessner H, Mathijssen IM, Pereira AM, Schaefer F, Scarpa M, Blay JY, Dollfus H, Hoogerbrugge N. European Reference Networks: challenges and opportunities. J Community Genet. 2021 Apr;12(2):217-229. doi: 10.1007/s12687-021-00521-8. Epub 2021 Mar 17. PMID: 33733400; PMCID: PMC7968406.

The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys

Citation: Lampe C, Dionisi-Vici C, Bellettato CM, Paneghetti L, van Lingen C, Bond S, Brown C, Finglas A, Francisco R, Sestini S, Heard JM, Scarpa M; MetabERN collaboration group. The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys. Orphanet J Rare Dis. 2020 Dec 3;15(1):341. doi: 10.1186/s13023-020-01619-x. PMID: 33272301; PMCID: PMC7711270.

Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network

Citation: Heard JM, Vrinten C, Schlander M, Bellettato CM, van Lingen C, Scarpa M; MetabERN collaboration group. Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network. Orphanet J Rare Dis. 2020 Jan 6;15(1):3. doi: 10.1186/s13023-019-1280-5. PMID: 31907071; PMCID: PMC6945588.

Research activity and capability in the European reference network MetabERN

Citation: Heard JM, Bellettato C, van Lingen C, Scarpa M; MetabERN collaboration group. Research activity and capability in the European reference network MetabERN. Orphanet J Rare Dis. 2019 May 29;14(1):119. doi: 10.1186/s13023-019-1091-8. PMID: 31142374; PMCID: PMC6542047.

Possible strategies to cross the blood-brain barrier

Citation: Bellettato CM, Scarpa M. Possible strategies to cross the blood-brain barrier. Ital J Pediatr. 2018 Nov 16;44(Suppl 2):131. doi: 10.1186/s13052-018-0563-0. PMID: 30442184; PMCID: PMC6238258.

Guidelines

Sanfilippo syndrome: consensus guidelines for clinical care

Citation: Muschol, N., Giugliani, R., Jones, S.A. et al. Sanfilippo syndrome: consensus guidelines for clinical care. Orphanet J Rare Dis 17, 391 (2022). https://doi.org/10.1186/s13023-022-02484-6

Home infusion therapy for Pompe disease: Recommendations for German-speaking countries

Citation: Hahn A, Lampe C, Boentert M, Hundsberger T, Löscher W, Wenninger S, Ziegler A, Lagler F, Ballhausen D, Schlegel T, Schoser B. Heiminfusionstherapie bei Morbus Pompe: Konsensusempfehlungen für den deutschsprachigen Raum [Home infusion therapy for Pompe disease: Recommendations for German-speaking countries]. Fortschr Neurol Psychiatr. 2021 Dec;89(12):630-636. German. doi: 10.1055/a-1365-8977. Epub 2021 Feb 9. Erratum in: Fortschr Neurol Psychiatr. 2021 Apr 27;: PMID: 33561874.

Italian national consensus statement on management and pharmacological treatment of phenylketonuria

Citation: Burlina, A., Biasucci, G., Carbone, M.T. et al. Italian national consensus statement on management and pharmacological treatment of phenylketonuria. Orphanet J Rare Dis 16, 476 (2021). https://doi.org/10.1186/s13023-021-02086-8

Management of CLN1 Disease: International Clinical Consensus

Citation: Augustine EF, Adams HR, de Los Reyes E, et al. Management of CLN1 Disease: International Clinical Consensus. Pediatr Neurol. 2021;120:38-51. doi:10.1016/j.pediatrneurol.2021.04.002

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

Citation: Mole, S.E., Schulz, A., Badoe, E. et al. Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients. Orphanet J Rare Dis 16, 185 (2021). https://doi.org/10.1186/s13023-021-01813-5

Development of the “Hamburg Best Practice Guidelines for ICV−Enzyme Replacement therapy (ERT) in CLN2 Disease” Based on 6 Years Treatment Experience in 48 Patients

Citation: Schwering C, Kammler G, Wibbeler E, et al. Development of the “Hamburg Best Practice Guidelines for ICV−Enzyme Replacement therapy (ERT) in CLN2 Disease” Based on 6 Years Treatment Experience in 48 Patients. Journal of Child Neurology. 2021;36(8):635-641. doi:10.1177/0883073821989154

Glycogen storage disease type III - French National Diagnostic and Care Protocol

Glycogen storage disease type 3 (GSDIII) – French National Diagnostic and Care Protocol

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

Citation: Forny P, Hörster F, Ballhausen D, Chakrapani A, Chapman KA, Dionisi-Vici C, Dixon M, Grünert SC, Grunewald S, Haliloglu G, Hochuli M, Honzik T, Karall D, Martinelli D, Molema F, Sass JO, Scholl-Bürgi S, Tal G, Williams M, Huemer M, Baumgartner MR. Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. J Inherit Metab Dis. 2021 May;44(3):566-592. doi: 10.1002/jimd.12370. Epub 2021 Mar 9. PMID: 33595124; PMCID: PMC8252715.

COVID-19 Recommendations

The COVID-19 pandemic is testing the resilience of robust health systems around the world. This may be impacting you in many different ways, such as creating additional anxiety or exacerbating other medical or therapy issues related to your Inherited Metabolic Disease (IMD). In this difficult period, MetabERN underlines the critical importance of sustaining efforts to prevent, diagnose and treat Inherited Metabolic Diseases (IMDs) assuring the continuation of the quality of care provided to you. To help the entire metabolic community, we have developed some recommendations that aim to support all rare IMD patients and caregivers during the COVID-19 emergency.

COVID-19 Vaccine Recommendations

The experts of MetabERN recommend that IMD patients get vaccinated against COVID-19 when they are offered this opportunity.

All IMDs should be considered as a high priority for COVID-19 vaccination. Patients who present a high risk of acute metabolic decompensation, respiratory or cardiac complications, and frequent exacerbation induced by infection, such as those with AOA, PM-MD, C-FAO and LSD, should be vaccinated with the highest priority.

Based on the current evidence, our experts’ advice is to use any vaccine available in the country, with no particular contraindications for any metabolic disease.

Find more information here

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