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A Community-Led Approach As a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation
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Orientador(es)
Resumo(s)
Congenital Disorders of Glycosylation (CDG) are a large family of rare genetic diseases for which effective therapies are almost nonexistent. To better understand the reasons behind this, to analyze ongoing therapy research and development (R&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&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&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’s pioneering and adaptable community-led methodology identified several CDG therapy R&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&D.
Descrição
Funding: the project LA/P/0140/2020 of the Associate Laboratory Institute for Health and Bioeconomy—i4HB and the project LA/P/0045/2020 of the Associate Laboratory in Chemical Engineering (ALiCE), the Base.
DL57/2016/CP1336/CT0001.
Publisher Copyright:
© 2022 by the authors. Licensee MDPI, Basel, Switzerland.
Palavras-chave
Congenital Disorder(s) of Glycosylation (CDG) drug development mixed methods research rare diseases therapies think tanks Pollution Public Health, Environmental and Occupational Health Health, Toxicology and Mutagenesis SDG 3 - Good Health and Well-being