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To better understand the reasons behind this, to analyze ongoing therapy research and development (R&amp;D) for CDG, and to provide future guidance, a community-led mixed methods approach was organized during the 4th World Conference on CDG for Families and Professionals. In the quantitative phase, electronic surveys pointed to the prioritization of six therapeutic R&amp;D tools, namely biobanks, registries, biomarkers, disease models, natural history studies, and clinical trials. Subsequently, in the qualitative phase, the challenges and solutions associated with these research tools were explored through community-driven think tanks. The multiple challenges and solutions identified administrative\/regulatory, communication, financial, technical, and biological issues, which are directly related to three fundamental aspects of therapy R&amp;D, namely data, sample, and patient management. An interdependence was traced between the prioritized tools, with diagnosis and therapies acting as bidirectional triggers that fuel these interrelationships. In conclusion, this study\u2019s pioneering and adaptable community-led methodology identified several CDG therapy R&amp;D gaps, many common to other rare diseases, without easy solutions. However, the strong proactive attitude towards research, based on inclusive and international partnerships and involving all members of the CDG community, sets the direction for better future therapy R&amp;D.<\/jats:p>","DOI":"10.3390\/ijerph19116829","type":"journal-article","created":{"date-parts":[[2022,6,2]],"date-time":"2022-06-02T11:05:02Z","timestamp":1654167902000},"page":"6829","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A Community-Led Approach as a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation"],"prefix":"10.3390","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4398-3401","authenticated-orcid":false,"given":"Rita","family":"Francisco","sequence":"first","affiliation":[{"name":"CDG & Allies\u2014Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal"},{"name":"UCIBIO, Department of Life Sciences, NOVA School of Science and Technology, NOVA University of Lisbon, 2819-516 Caparica, Portugal"},{"name":"Associate Laboratory i4HB\u2014Institute for Health and Bioeconomy, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal"},{"name":"Portuguese Association for Congenital Disorders of Glycosylation (CDG), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal"}]},{"given":"Sandra","family":"Brasil","sequence":"additional","affiliation":[{"name":"CDG & Allies\u2014Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal"},{"name":"UCIBIO, Department of Life Sciences, NOVA School of Science and Technology, NOVA University of Lisbon, 2819-516 Caparica, Portugal"},{"name":"Associate Laboratory i4HB\u2014Institute for Health and Bioeconomy, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal"},{"name":"Portuguese Association for Congenital Disorders of Glycosylation (CDG), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5049-0579","authenticated-orcid":false,"given":"Carlota","family":"Pascoal","sequence":"additional","affiliation":[{"name":"CDG & Allies\u2014Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal"},{"name":"UCIBIO, Department of Life Sciences, NOVA School of Science and Technology, NOVA University of Lisbon, 2819-516 Caparica, Portugal"},{"name":"Associate Laboratory i4HB\u2014Institute for Health and Bioeconomy, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal"},{"name":"Portuguese Association for Congenital Disorders of Glycosylation (CDG), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal"}]},{"given":"Andrew C.","family":"Edmondson","sequence":"additional","affiliation":[{"name":"CDG & Allies\u2014Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal"},{"name":"Section of Biochemical Genetics, Division of Human Genetics, Department of Pediatrics, Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"}]},{"given":"Jaak","family":"Jaeken","sequence":"additional","affiliation":[{"name":"CDG & Allies\u2014Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal"},{"name":"Center for Metabolic Diseases, Department of Pediatrics, KU Leuven, 3000 Leuven, Belgium"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5987-2485","authenticated-orcid":false,"given":"Paula A.","family":"Videira","sequence":"additional","affiliation":[{"name":"CDG & Allies\u2014Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal"},{"name":"UCIBIO, Department of Life Sciences, NOVA School of Science and Technology, NOVA University of Lisbon, 2819-516 Caparica, Portugal"},{"name":"Associate Laboratory i4HB\u2014Institute for Health and Bioeconomy, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal"},{"name":"Portuguese Association for Congenital Disorders of Glycosylation (CDG), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1828-8642","authenticated-orcid":false,"given":"Cl\u00e1udia","family":"de Freitas","sequence":"additional","affiliation":[{"name":"EPI Unit\u2014Instituto de Sa\u00fade P\u00fablica, Laborat\u00f3rio para a Investiga\u00e7\u00e3o Integrativa e Translacional em Sa\u00fade Populacional (ITR), Faculdade de Medicina, Departamento de Ci\u00eancias da Sa\u00fade P\u00fablica e Forenses e Educa\u00e7\u00e3o M\u00e9dica, Universidade do Porto, 4050-600 Porto, Portugal"}]},{"given":"Vanessa dos Reis","family":"Ferreira","sequence":"additional","affiliation":[{"name":"CDG & Allies\u2014Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal"},{"name":"UCIBIO, Department of Life Sciences, NOVA School of Science and Technology, NOVA University of Lisbon, 2819-516 Caparica, Portugal"},{"name":"Associate Laboratory i4HB\u2014Institute for Health and Bioeconomy, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal"},{"name":"Portuguese Association for Congenital Disorders of Glycosylation (CDG), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0460-5421","authenticated-orcid":false,"given":"Dorinda","family":"Marques-da-Silva","sequence":"additional","affiliation":[{"name":"CDG & Allies\u2014Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal"},{"name":"Portuguese Association for Congenital Disorders of Glycosylation (CDG), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal"},{"name":"LSRE-LCM\u2014Laboratory of Separation and Reaction Engineering\u2014Laboratory of Catalysis and Materials, Escola Superior de Tecnologia e Gest\u00e3o, Instituto Polit\u00e9cnico de Leiria, 2411-901 Leiria, Portugal"},{"name":"ALiCE\u2014Associate Laboratory in Chemical Engineering, Faculty of Engineering, University of Porto, 4200-465 Porto, Portugal"}]}],"member":"1968","published-online":{"date-parts":[[2022,6,2]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1203\/00006450-198002000-00117","article-title":"Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG deficiency, increased serum arylsulphatase A and increased CSF protein: A new syndrome?","volume":"14","author":"Jaeken","year":"1980","journal-title":"Pediatr Res."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1007\/s10545-018-0156-5","article-title":"Recognizable phenotypes in 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