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 Jun 2;19(11):6829. doi: 10.3390/ijerph19116829.


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.

Keywords: Congenital Disorder(s) of Glycosylation (CDG); drug development; mixed methods research; rare diseases; therapies; think tanks.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers
  • Congenital Disorders of Glycosylation* / diagnosis
  • Congenital Disorders of Glycosylation* / genetics
  • Congenital Disorders of Glycosylation* / therapy
  • Glycosylation
  • Humans
  • Surveys and Questionnaires


  • Biomarkers

Grants and funding

This work is financed by national funds from FCT—Fundação para a Ciência e a Tecnologia, I.P., in the scope of the project UIDP/04378/2020 and UIDB/04378/2020 of the Research Unit on Applied Molecular Biosciences—UCIBIO, 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-UIDB/50020/2020 and Programmatic-UIDP/50020/2020 funding of LSRE-LCM, funded by national funds through FCT/MCTES (PIDDAC). Rita Francisco (SFRH/BD/124326/2016) and Carlota Pascoal (SFRH/BD/138647/2018) acknowledge the funding from the Fundação para a Ciência e Tecnologia (FCT), Portugal. Sandra Brasil was supported by CDG & Allies—PPAIN funding and Cláudia de Freitas acknowledges the individual contract grant DL57/2016/CP1336/CT0001.