Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community.

Humans Congenital Disorders of Glycosylation / diagnosis Female Male Surveys and Questionnaires
Community-centered research Congenital disorders of glycosylation (CDG) Diagnostic odyssey journey Patient journey Rare diseases

Journal

Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602

Informations de publication

Date de publication:
01 Nov 2024
Historique:
received: 09 08 2023
accepted: 03 10 2024
medline: 1 11 2024
pubmed: 1 11 2024
entrez: 1 11 2024
Statut: epublish

Résumé

Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases with heterogeneous presentations, leading to substantial diagnostic challenges, which are poorly understood. Therefore, this study aims to elucidate this diagnostic journey by examining families' and professionals' experiences. A questionnaire was designed for CDG families and professionals, garnering 160 and 35 responses, respectively. Analysis revealed the lack of seizures as a distinctive feature between PMM2-CDG (11.2%) with Other CDG (57.7%) at symptom onset. Hypotonia and developmental disability were prevalent symptoms across all studied CDG. Feeding problems were identified as an early onset symptom in PMM2-CDG (Cramer's V (V) = 0.30, False Discovery Rate (FDR) = 3.8 × 10 This study emphasizes the crucial role of community-centered research, and the insights families can offer to enhance CDG management. By pinpointing existing gaps and needs, our findings can inform targeted interventions and support systems to improve the lives of those impacted by CDG.

Sections du résumé

BACKGROUND BACKGROUND
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases with heterogeneous presentations, leading to substantial diagnostic challenges, which are poorly understood. Therefore, this study aims to elucidate this diagnostic journey by examining families' and professionals' experiences.
RESULTS AND DISCUSSION CONCLUSIONS
A questionnaire was designed for CDG families and professionals, garnering 160 and 35 responses, respectively. Analysis revealed the lack of seizures as a distinctive feature between PMM2-CDG (11.2%) with Other CDG (57.7%) at symptom onset. Hypotonia and developmental disability were prevalent symptoms across all studied CDG. Feeding problems were identified as an early onset symptom in PMM2-CDG (Cramer's V (V) = 0.30, False Discovery Rate (FDR) = 3.8 × 10
CONCLUSION CONCLUSIONS
This study emphasizes the crucial role of community-centered research, and the insights families can offer to enhance CDG management. By pinpointing existing gaps and needs, our findings can inform targeted interventions and support systems to improve the lives of those impacted by CDG.

Identifiants

DOI: 10.1186/s13023-024-03389-2 PMID: 39482754
pubmed: 39482754
doi: 10.1186/s13023-024-03389-2
pii: 10.1186/s13023-024-03389-2
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

407

Informations de copyright

© 2024. The Author(s).

Références

Donaldson L, Ricciardi W, Sheridan S, Tartaglia R, editors. Textbook of patient safety and clinical risk management. Cham: Springer International Publishing; 2021. https://doi.org/10.1007/978-3-030-59403-9 . (accessed April 7, 2023).
Benson M, Albanese A, Bhatia KP, Cavillon P, Cuffe L, König K, et al. Development of a patient journey map for people living with cervical dystonia. Orphanet J Rare Dis. 2022;17:130. https://doi.org/10.1186/s13023-022-02270-4 .
doi: 10.1186/s13023-022-02270-4 pubmed: 35313909 pmcid: 8935780
Linda NG, Oliver Sum P, Yong-Jian G. Phases of the diagnostic journey: a Framework. Int Arch Intern Med. 2019;3. https://doi.org/10.23937/2643-4466/1710013 .
EU research on rare diseases. n.d. https://research-and-innovation.ec.europa.eu/research-area/health/rare-diseases_en (accessed August 7, 2023).
Global Comission. Ending the diagnostic odyssey for children. With a rare disease. 2018. https://www.cmtc.nl/wpcontent/uploads/2020/04/0301-parrish-2.pdf . (accessed August 7, 2023).
Basel D, McCarrier J. Ending a diagnostic odyssey: Family Education, Counseling, and response to eventual diagnosis. Pediatr Clin North Am. 2017;64:265–72. https://doi.org/10.1016/j.pcl.2016.08.017 .
doi: 10.1016/j.pcl.2016.08.017 pubmed: 27894449
Richter T, Nestler-Parr S, Babela R, Khan ZM, Tesoro T, Molsen E, et al. Rare disease terminology and Definitions—A systematic global review: report of the ISPOR Rare Disease Special Interest Group. Value Health. 2015;18:906–14. https://doi.org/10.1016/j.jval.2015.05.008 .
doi: 10.1016/j.jval.2015.05.008 pubmed: 26409619
Hanscom R, Small M, Lambrecht A. Diagnostic accuracy: room for improvement. 2018. https://www.coverys.com/PDFs/Coverys_Diagnostic_Accuracy_Report.aspx . (accessed August 7, 2023).
Zurynski Y, Frith K, Leonard H, Elliott E. Rare childhood diseases: how should we respond? Arch Dis Child. 2008;93:1071–4. https://doi.org/10.1136/adc.2007.134940 .
doi: 10.1136/adc.2007.134940 pubmed: 18684747
Baumbusch J, Mayer S, Sloan-Yip I. Alone in a crowd? Parents of children with rare diseases’ experiences of navigating the Healthcare System. J Genet Couns. 2019;28:80–90. https://doi.org/10.1007/s10897-018-0294-9 .
About CDG. | CDG Hub n.d. https://www.cdghub.com/about/ . (accessed August 7, 2023).
Péanne R, de Lonlay P, Foulquier F, Kornak U, Lefeber DJ, Morava E, et al. Congenital disorders of glycosylation (CDG): Quo Vadis? Eur J Med Genet. 2018;61:643–63. https://doi.org/10.1016/j.ejmg.2017.10.012 .
doi: 10.1016/j.ejmg.2017.10.012 pubmed: 29079546
Ondruskova N, Cechova A, Hansikova H, Honzik T, Jaeken J. Congenital disorders of glycosylation: still hot in 2020. Biochim Biophys Acta BBA - Gen Subj. 2021;1865:129751. https://doi.org/10.1016/j.bbagen.2020.129751 .
doi: 10.1016/j.bbagen.2020.129751
Gagneux P, Hennet T, Varki A. Biological functions of glycans. In: Varki A, Cummings RD, Esko JD, Stanley P, Hart GW, Aebi M, et al. editors. Essent. Glycobiol. 4th ed. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 2022.
Jaeken J. Congenital disorders of glycosylation (CDG): it’s (nearly) all in it! J Inherit Metab Dis. 2011;34:853–8. https://doi.org/10.1007/s10545-011-9299-3 .
doi: 10.1007/s10545-011-9299-3 pubmed: 21384229
Ferreira CR, Altassan R, Marques-Da-Silva D, Francisco R, Jaeken J, Morava E. Recognizable phenotypes in CDG. J Inherit Metab Dis. 2018;41:541–53. https://doi.org/10.1007/s10545-018-0156-5 .
doi: 10.1007/s10545-018-0156-5 pubmed: 29654385 pmcid: 5960425
Chang IJ, He M, Lam CT. Congenital disorders of glycosylation. Ann Transl Med. 2018;6:477–477. https://doi.org/10.21037/atm.2018.10.45 .
doi: 10.21037/atm.2018.10.45 pubmed: 30740408 pmcid: 6331365
Gámez A, Serrano M, Gallego D, Vilas A, Pérez B. New and potential strategies for the treatment of PMM2-CDG. Biochim Biophys Acta BBA - Gen Subj. 2020;1864:129686. https://doi.org/10.1016/j.bbagen.2020.129686 .
doi: 10.1016/j.bbagen.2020.129686
Iyer S, Sam FS, DiPrimio N, Preston G, Verheijen J, Murthy K et al. Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG. Dis Model Mech 2019:dmm040584. https://doi.org/10.1242/dmm.040584
Martínez-Monseny AF, Bolasell M, Callejón‐Póo L, Cuadras D, Freniche V, Itzep DC, et al. AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG). Ann Neurol. 2019;85:740–51. https://doi.org/10.1002/ana.25457 .
doi: 10.1002/ana.25457 pubmed: 30873657
Witters P, Tahata S, Barone R, Õunap K, Salvarinova R, Grønborg S, et al. Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG. Genet Med. 2020;22:1102–7. https://doi.org/10.1038/s41436-020-0767-8 .
doi: 10.1038/s41436-020-0767-8 pubmed: 32103184 pmcid: 7275909
Hendriksz CJ. Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose. Arch Dis Child. 2001;85:339–40. https://doi.org/10.1136/adc.85.4.339 .
doi: 10.1136/adc.85.4.339 pubmed: 11567948 pmcid: 1718944
Verheijen J, Tahata S, Kozicz T, Witters P, Morava E. Therapeutic approaches in congenital disorders of Glycosylation (CDG) involving N-linked glycosylation: an update. Genet Med. 2020;22:268–79. https://doi.org/10.1038/s41436-019-0647-2 .
doi: 10.1038/s41436-019-0647-2 pubmed: 31534212
Lefeber DJ, Morava E, Jaeken J. How to find and diagnose a CDG due to defective N-glycosylation. J Inherit Metab Dis. 2011;34:849–52. https://doi.org/10.1007/s10545-011-9370-0 .
doi: 10.1007/s10545-011-9370-0 pubmed: 21739167 pmcid: 3137781
Bruneel A, Cholet S, Tran NT, Mai TD, Fenaille F. CDG biochemical screening: where do we stand? Biochim Biophys Acta BBA -. Gen Subj. 2020;1864:129652. https://doi.org/10.1016/j.bbagen.2020.129652 .
Francisco R, Brasil S, Poejo J, Jaeken J, Pascoal C, Videira PA, et al. Congenital disorders of glycosylation (CDG): state of the art in 2022. Orphanet J Rare Dis. 2023;18:329. https://doi.org/10.1186/s13023-023-02879-z .
doi: 10.1186/s13023-023-02879-z pubmed: 37858231 pmcid: 10585812
Francisco R, Marques-da-Silva D, Brasil S, Pascoal C, dos Reis Ferreira V, Morava E, et al. The challenge of CDG diagnosis. Mol Genet Metab. 2019;126:1–5. https://doi.org/10.1016/j.ymgme.2018.11.003 .
doi: 10.1016/j.ymgme.2018.11.003 pubmed: 30454869
Sandilands K, Williams A, Rylands AJ. Carer burden in rare inherited diseases: a literature review and conceptual model. Orphanet J Rare Dis. 2022;17:428. https://doi.org/10.1186/s13023-022-02561-w .
doi: 10.1186/s13023-022-02561-w pubmed: 36494728 pmcid: 9733280
Francisco R, Pascoal C, Marques-da-Silva D, Brasil S, Pimentel-Santos FM, Altassan R, et al. New insights into Immunological involvement in congenital disorders of Glycosylation (CDG) from a people-Centric Approach. J Clin Med. 2020;9:2092. https://doi.org/10.3390/jcm9072092 .
doi: 10.3390/jcm9072092 pubmed: 32635232 pmcid: 7408855
Francisco R, Alves S, Gomes C, Granjo P, Pascoal C, Brasil S, et al. A participatory Framework for Plain Language Clinical Management Guideline Development. Int J Environ Res Public Health. 2022;19:13506. https://doi.org/10.3390/ijerph192013506 .
doi: 10.3390/ijerph192013506 pubmed: 36294089 pmcid: 9603256
Francisco R, Brasil S, Pascoal C, Jaeken J, Liddle M, Videira PA, et al. The road to successful people-centric research in rare diseases: the web-based case study of the Immunology and congenital disorders of Glycosylation questionnaire (ImmunoCDGQ). Orphanet J Rare Dis. 2022;17:134. https://doi.org/10.1186/s13023-022-02286-w .
doi: 10.1186/s13023-022-02286-w pubmed: 35331276 pmcid: 8944152
Monticelli M, Francisco R, Brasil S, Marques-da-Silva D, Rijoff T, Pascoal C, et al. Stakeholders’ views on drug development: the congenital disorders of glycosylation community perspective. Orphanet J Rare Dis. 2022;17:303. https://doi.org/10.1186/s13023-022-02460-0 .
doi: 10.1186/s13023-022-02460-0 pubmed: 35907899 pmcid: 9338569
Lê S, Josse J, Husson F. FactoMineR: an R package for multivariate analysis. J Stat Softw. 2008;25(1). https://doi.org/10.18637/jss.v025.i01 . http://www.jstatsoft.org/v25/i01/ . (accessed April 9, 2023).
Revelle W, Psych. Procedures for psychological, psychometric, and personality research R package version 1.9.12. 2019. https://CRAN.R-project.org/package=psych . (accessed April 3, 2023).
Mayer M. Confidence intervals. Nachdr. Thousand Oaks. Quantitative applications in the social sciences. Calif.: Sage Publ; 2023. p. 93. https://github.com/mayer79/confintr .
Piedade A, Francisco R, Jaeken J, Sarkhail P, Brasil S, Ferreira CR, et al. Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives. J Rare Dis. 2022;1:3. https://doi.org/10.1007/s44162-022-00003-6 .
doi: 10.1007/s44162-022-00003-6
Jaeken J, Lefeber D, Matthijs G. Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation. Eur J Hum Genet. 2015;23:1–3. https://doi.org/10.1038/ejhg.2014.146 .
doi: 10.1038/ejhg.2014.146
Bogdańska A, Lipiński P, Szymańska-Rożek P, Jezela-Stanek A, Rokicki D, Socha P, et al. Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up. Orphanet J Rare Dis. 2021;16:17. https://doi.org/10.1186/s13023-020-01657-5 .
doi: 10.1186/s13023-020-01657-5 pubmed: 33407696 pmcid: 7789416
Kuiper G-A, Meijer OLM, Langereis EJ, Wijburg FA. Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications. Orphanet J Rare Dis. 2018;13:2. https://doi.org/10.1186/s13023-017-0733-y .
doi: 10.1186/s13023-017-0733-y pubmed: 29310675 pmcid: 5759238
Magerl M, Gothe H, Krupka S, Lachmann A, Ohlmeier C. A Germany-wide survey study on the patient journey of patients with hereditary angioedema. Orphanet J Rare Dis. 2020;15:221. https://doi.org/10.1186/s13023-020-01506-5 .
doi: 10.1186/s13023-020-01506-5 pubmed: 32843072 pmcid: 7448463
for the Vasculitis Patient-Powered Research Network, Sreih AG, Cronin K, Shaw DG, Young K, Burroughs C, et al. Diagnostic delays in vasculitis and factors associated with time to diagnosis. Orphanet J Rare Dis. 2021;16:184. https://doi.org/10.1186/s13023-021-01794-5 .
doi: 10.1186/s13023-021-01794-5 pmcid: 8059170
Nguyen CQ, Kariyawasam D, Alba-Concepcion K, Grattan S, Hetherington K, Wakefield CE, et al. Advocacy groups are the connectors’: experiences and contributions of rare disease patient organization leaders in advanced neurotherapeutics. Health Expect. 2022;25:3175–91. https://doi.org/10.1111/hex.13625 .
doi: 10.1111/hex.13625 pubmed: 36307981 pmcid: 9700154
Starosta RT, Tarnowski J, Vairo FP e, Raymond K, Preston G, Morava E. Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T > C (p.Tyr131His) variant and further expanding the BBSOAS phenotype. Eur J Med Genet. 2020;63:103941. https://doi.org/10.1016/j.ejmg.2020.103941
Depping MK, Uhlenbusch N, von Kodolitsch Y, Klose HFE, Mautner V-F, Löwe B. Supportive care needs of patients with rare chronic diseases: multi-method, cross-sectional study. Orphanet J Rare Dis. 2021;16:44. https://doi.org/10.1186/s13023-020-01660-w .
doi: 10.1186/s13023-020-01660-w pubmed: 33482869 pmcid: 7825171
Centers for Disease Control and Prevention. Talking points about health literacy. 2021. https://www.cdc.gov/healthliteracy/shareinteract/TellOthers.html . (accessed January 27, 2023).
Paprocka J, Jezela-Stanek A, Tylki-Szymańska A, Grunewald S. Congenital Disorders of Glycosylation from a neurological perspective. Brain Sci. 2021;11:88. https://doi.org/10.3390/brainsci11010088 .
doi: 10.3390/brainsci11010088 pubmed: 33440761 pmcid: 7827962
Fiumara A, Barone R, Del Campo G, Striano P, Jaeken J. Electroclinical features of early-onset epileptic encephalopathies in congenital disorders of glycosylation (CDGs). In: Morava E, Baumgartner M, Patterson M, Rahman S, Zschocke J, Peters V, editors. JIMD reports. Volume 27. Berlin, Heidelberg: Springer Berlin Heidelberg; 2015. pp. 93–9. https://doi.org/10.1007/8904_2015_497 .
doi: 10.1007/8904_2015_497
de Lonlay P, Seta N, Barrot S, Chabrol B, Drouin V, Gabriel BM, et al. A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. J Med Genet. 2001;38:14–9. https://doi.org/10.1136/jmg.38.1.14 .
doi: 10.1136/jmg.38.1.14 pubmed: 11134235 pmcid: 1734729
Bayat A, Knaus A, Pendziwiat M, Afenjar A, Barakat TS, Bosch F, et al. Lessons learned from 40 novel PIGA patients and a review of the literature. Epilepsia. 2020;61:1142–55. https://doi.org/10.1111/epi.16545 .
doi: 10.1111/epi.16545 pubmed: 32452540
Clark DJ, Murray T, Drees M, Kulkarni N. A Case of ALG6-CDG with Explosive Onset of Intractable Epilepsy during Infancy. Child Neurol Open. 2023;10:2329048X2311537. https://doi.org/10.1177/2329048X231153781 .
doi: 10.1177/2329048X231153781
Schiff M, Roda C, Monin M-L, Arion A, Barth M, Bednarek N, et al. Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature. J Med Genet. 2017;54:843–51. https://doi.org/10.1136/jmedgenet-2017-104903 .
doi: 10.1136/jmedgenet-2017-104903 pubmed: 28954837
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, et al. International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: diagnosis, treatment and follow up. J Inherit Metab Dis. 2019;42:5–28. https://doi.org/10.1002/jimd.12024 .
doi: 10.1002/jimd.12024 pubmed: 30740725
Marques-da-Silva D, dos Reis Ferreira V, Monticelli M, Janeiro P, Videira PA, Witters P, et al. Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature. J Inherit Metab Dis. 2017;40:195–207. https://doi.org/10.1007/s10545-016-0012-4 .
doi: 10.1007/s10545-016-0012-4 pubmed: 28108845
De Graef D, Ligezka AN, Rezents J, Mazza GL, Preston G, Schwartz K, et al. Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation. Mol Genet Metab. 2023;139:107606. https://doi.org/10.1016/j.ymgme.2023.107606 .
doi: 10.1016/j.ymgme.2023.107606 pubmed: 37224763 pmcid: 10530657
Linssen M, Mohamed M, Wevers RA, Lefeber DJ, Morava E. Thrombotic complications in patients with PMM2-CDG. Mol Genet Metab. 2013;109:107–11. https://doi.org/10.1016/j.ymgme.2013.02.006 .
doi: 10.1016/j.ymgme.2013.02.006 pubmed: 23499581
Pascreau T, Auditeau C, Borgel D. Hemostatic defects in congenital disorders of glycosylation. Res Pract Thromb Haemost. 2023;7:100142. https://doi.org/10.1016/j.rpth.2023.100142 .
doi: 10.1016/j.rpth.2023.100142 pubmed: 37193126 pmcid: 10182314
Pérez-Cerdá C, Girós ML, Serrano M, Ecay MJ, Gort L, Pérez Dueñas B, et al. A Population-based study on congenital disorders of protein N- and combined with O-Glycosylation experience in clinical and genetic diagnosis. J Pediatr. 2017;183:170–e1771. https://doi.org/10.1016/j.jpeds.2016.12.060 .
doi: 10.1016/j.jpeds.2016.12.060 pubmed: 28139241
Körner C, Knauer R, Holzbach U, Hanefeld F, Lehle L, von Figura K. Carbohydrate-deficient glycoprotein syndrome type V: Deficiency of dolichyl- P -Glc:Man
doi: 10.1073/pnas.95.22.13200 pubmed: 9789065 pmcid: 23759
Barone R, Carrozzi M, Parini R, Battini R, Martinelli D, Elia M, et al. A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation. J Neurol. 2015;262:154–64. https://doi.org/10.1007/s00415-014-7549-7 .
doi: 10.1007/s00415-014-7549-7 pubmed: 25355454
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, et al. Whole-genome sequencing of patients with rare diseases in a national health system. Nature. 2020;583:96–102. https://doi.org/10.1038/s41586-020-2434-2 .
doi: 10.1038/s41586-020-2434-2 pubmed: 32581362 pmcid: 7610553
Nisar H, Wajid B, Shahid S, Anwar F, Wajid I, Khatoon A, et al. Whole-genome sequencing as a first-tier diagnostic framework for rare genetic diseases. Exp Biol Med. 2021;246:2610–7. https://doi.org/10.1177/15353702211040046 .
doi: 10.1177/15353702211040046
Nambot S, Thevenon J, Kuentz P, Duffourd Y, Tisserant E, Bruel A-L, et al. Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis. Genet Med. 2018;20:645–54. https://doi.org/10.1038/gim.2017.162 .
doi: 10.1038/gim.2017.162 pubmed: 29095811
Lumsden JM, Urv TK. The Rare diseases Clinical Research Network: a model for clinical trial readiness. Ther Adv Rare Dis. 2023;4:26330040231219272. https://doi.org/10.1177/26330040231219272 .
doi: 10.1177/26330040231219272 pubmed: 38152157 pmcid: 10752072
Moliner AM, Waligora J. The European Union Policy in the field of Rare diseases. In: de la Posada M, Taruscio D, Groft SC, editors. Rare dis. Epidemiol. Update overv. Cham: Springer International Publishing; 2017. pp. 561–87. https://doi.org/10.1007/978-3-319-67144-4_30 .
doi: 10.1007/978-3-319-67144-4_30
Melo DG, De Paula PK, De Araujo Rodrigues S, Da Silva De Avó LR, Germano CMR, Demarzo MMP. Genetics in primary health care and the National Policy on Comprehensive Care for people with Rare diseases in Brazil: opportunities and challenges for professional education. J Community Genet. 2015;6:231–40. https://doi.org/10.1007/s12687-015-0224-6 .
doi: 10.1007/s12687-015-0224-6 pubmed: 25893505 pmcid: 4524835
Wainstock D, Katz A. Advancing rare disease policy in Latin America: a call to action. Lancet Reg Health - Am. 2023;18:100434. https://doi.org/10.1016/j.lana.2023.100434 .
doi: 10.1016/j.lana.2023.100434 pubmed: 36844013 pmcid: 9950655
Taruscio D, Baynam G, Cederroth H, Groft SC, Klee EW, Kosaki K, et al. The Undiagnosed Diseases Network International: five years and more! Mol Genet Metab. 2020;129:243–54. https://doi.org/10.1016/j.ymgme.2020.01.004 .
doi: 10.1016/j.ymgme.2020.01.004 pubmed: 32033911
Frontiers in Congenital Disorders of Glycosylation n. d. https://fcdgc.rarediseasesnetwork.org/ (accessed May 17, 2023).
MetabERN. European Refence Network for Hereditary Metabolic Disorders n.d. https://metab.ern-net.eu/ (accessed August 7, 2023).
EUROGLYCAN-omics. congenital errors of glycosylation n.d. https://researchportal.be/en/project/euroglycan-omics-congenital-errors-glycosylation (accessed May 17, 2023).
Brasil S, Pascoal C, Francisco R, dos Reis Ferreira V, Videira A, Valadão P. Artificial Intelligence (AI) in Rare diseases: is the future. Brighter? Genes. 2019;10:978. https://doi.org/10.3390/genes10120978 .
doi: 10.3390/genes10120978 pubmed: 31783696
Wojtara M, Rana E, Rahman T, Khanna P, Singh H. Artificial intelligence in rare disease diagnosis and treatment. Clin Transl Sci. 2023;16:2106–11. https://doi.org/10.1111/cts.13619 .
doi: 10.1111/cts.13619 pubmed: 37646577 pmcid: 10651639
De Freitas C, Dos Reis V, Silva S, Videira PA, Morava E, Jaeken J. Public and patient involvement in needs assessment and social innovation: a people-centred approach to care and research for congenital disorders of glycosylation. BMC Health Serv Res. 2017;17:682. https://doi.org/10.1186/s12913-017-2625-1 .
doi: 10.1186/s12913-017-2625-1 pubmed: 28950866 pmcid: 5615629
Ramalle-Gómara E, Ruiz E, Quiñones C, Andrés S, Iruzubieta J, Gil-de-Gómez J. General knowledge and opinion of future health care and non-health care professionals on rare diseases: opinion on rare diseases. J Eval Clin Pract. 2015;21:198–201. https://doi.org/10.1111/jep.12281 .
doi: 10.1111/jep.12281 pubmed: 25363689
Walkowiak D, Domaradzki J. Needs assessment study of rare diseases education for nurses and nursing students in Poland. Orphanet J Rare Dis. 2020;15:167. https://doi.org/10.1186/s13023-020-01432-6 .
doi: 10.1186/s13023-020-01432-6 pubmed: 32600383 pmcid: 7322909
Budych K, Helms TM, Schultz C. How do patients with rare diseases experience the medical encounter? Exploring role behavior and its impact on patient–physician interaction. Health Policy. 2012;105:154–64. https://doi.org/10.1016/j.healthpol.2012.02.018 .
doi: 10.1016/j.healthpol.2012.02.018 pubmed: 22464590
Domaradzki J, Walkowiak D, Knowledge, Attitudes of Future Healthcare Professionals Toward Rare Diseases. Front Genet. 2021;12:639610. https://doi.org/10.3389/fgene.2021.639610 .
doi: 10.3389/fgene.2021.639610 pubmed: 34122502 pmcid: 8194301
Posada M, Carroquino MJ, Pérez MH. EUROPEAN PROJECT FOR RARE DISEASES NATIONAL PLANS DEVELOPMENT 2011.
Tumiene B, Graessner H, Mathijssen IM, Pereira AM, Schaefer F, Scarpa M, et al. European reference networks: challenges and opportunities. J Community Genet. 2021;12:217–29. https://doi.org/10.1007/s12687-021-00521-8 .
doi: 10.1007/s12687-021-00521-8 pubmed: 33733400 pmcid: 7968406
Kopeć G, Podolec P. Establishing a curriculum on rare diseases for medical students. J Rare Cardiovasc Dis 2015;2.
Ranganathan S, Prasad V. CME: is it meeting the Mark? Am J Med. 2023;136:618–9. https://doi.org/10.1016/j.amjmed.2023.02.010 .
doi: 10.1016/j.amjmed.2023.02.010 pubmed: 36898599
CDG CARE Patient E-Brochure n. d. https://cdgcare.org/wp-content/uploads/2023/02/CDG-CARE-Patient-E-Brochure.pdf (accessed April 9, 2023).
Resource Library | World CDG Organization. https://worldcdg.org/resources?resources=&type=266 . (accessed April 17, 2023).
CDG Care - Resources. CDG Care n.d. https://cdgcare.org/resources/ (accessed May 17, 2023).
Falcão M, Allocca M, Rodrigues AS, Granjo P, Francisco R, Pascoal C, et al. A community-based participatory Framework to Co-develop Patient Education materials (PEMs) for Rare diseases: a Model Transferable across diseases. Int J Environ Res Public Health. 2023;20:968. https://doi.org/10.3390/ijerph20020968 .
doi: 10.3390/ijerph20020968 pubmed: 36673723 pmcid: 9859511
CDG Connect Patient Insights Network. https://connect.invitae.com/en/org/cdg (accessed April 9, 2023).
Inherited Glycosylphosphatidylinositol Deficiency (IGD). Disorders medical history collection and registry. https://redcap01.brisc.utah.edu/ccts/redcap/surveys/?s=R4HKREWNY4D7XF9T (accessed April 9, 2023).
CDG Care - Research. CDG Care n.d. https://cdgcare.org/research/ (accessed May 17, 2023).
Pascoal C, Ferreira I, Teixeira C, Almeida E, Slade A, Brasil S, et al. Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals. Orphanet J Rare Dis. 2022;17:398. https://doi.org/10.1186/s13023-022-02551-y .
doi: 10.1186/s13023-022-02551-y pubmed: 36309700 pmcid: 9618201
Francisco R, Brasil S, Pascoal C, Edmondson AC, Jaeken J, Videira PA, et al. A Community-Led Approach as a guide to Overcome Challenges for Therapy Research in congenital disorders of Glycosylation. Int J Environ Res Public Health. 2022;19:6829. https://doi.org/10.3390/ijerph19116829 .
doi: 10.3390/ijerph19116829 pubmed: 35682409 pmcid: 9180837
Pogoryelova O, González Coraspe JA, Nikolenko N, Lochmüller H, Roos A. GNE myopathy: from clinics and genetics to pathology and research strategies. Orphanet J Rare Dis. 2018;13:70. https://doi.org/10.1186/s13023-018-0802-x .
doi: 10.1186/s13023-018-0802-x pubmed: 29720219 pmcid: 5930817

Auteurs

Pedro Granjo (P)

UCIBIO - Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.
Associate Laboratory i4HB - Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.
CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal.

Carlota Pascoal (C)

UCIBIO - Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.
Associate Laboratory i4HB - Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.
CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal.
Portuguese Association for Congenital Disorders of Glycosylation (CDG), Lisbon, Portugal.

Diana Gallego (D)

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, Madrid, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Investigación Sanitaria IdiPaZ, Madrid, Spain.

Rita Francisco (R)

CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal.
Portuguese Association for Congenital Disorders of Glycosylation (CDG), Lisbon, Portugal.

Jaak Jaeken (J)

CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal.
Center for Metabolic Diseases, Department of Pediatrics, KU Leuven, Leuven, 3000, Belgium.

Tristen Moors (T)

Glycomine, Inc, 733 Industrial Road, San Carlos, CA, 94070, USA.

Andrew C Edmondson (AC)

Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Kristin A Kantautas (KA)

Perlara PBC, Berkeley, CA, 94705, USA.

Mercedes Serrano (M)

Neurology Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.

Paula A Videira (PA)

UCIBIO - Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal. p.videira@fct.unl.pt.
Associate Laboratory i4HB - Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal. p.videira@fct.unl.pt.
CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal. p.videira@fct.unl.pt.
Portuguese Association for Congenital Disorders of Glycosylation (CDG), Lisbon, Portugal. p.videira@fct.unl.pt.

Vanessa Dos Reis Ferreira (V)

UCIBIO - Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal. sindromecdg@gmail.com.
Associate Laboratory i4HB - Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal. sindromecdg@gmail.com.
CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal. sindromecdg@gmail.com.
Portuguese Association for Congenital Disorders of Glycosylation (CDG), Lisbon, Portugal. sindromecdg@gmail.com.
ORCID: 0000-0002-0696-2169

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Mapping the diagnostic odyssey of congenital...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Erreurs innées du métabolisme glucidique › Troubles congénitaux de la glycosylation › Mapping the diagnostic odyssey of congenital...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Collecte de données › Enquêtes et questionnaires › Mapping the diagnostic odyssey of congenital...