Publications and Guidelines

Publications

medical needs

 

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

 

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.

 

 

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.

 

 

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.

 

 

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.

 

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.

 

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.

 

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.

 

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.

 

 

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.

 

 

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.

 

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

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

 

Citation: Čechová A, et al Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation. J Inherit Metab Dis. 2020 Jul;43(4):671-693.

 

Citation: Opladen et al Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH(4)) deficiencies. Orphanet J Rare Dis. 2020 May 26;15(1):126.

 

Citation: Witters P, et al Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG. Genet Med. 2020 Jun;22(6):1102-1107.

 

Citation: Altassan R, et al International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management. J Inherit Metab Dis. 2021 Jan;44(1):148-163.