Resource Type




Disorder / CDG Type

All CDGs


Advances in research have boosted therapy development for congenital disorders of glycosylation (CDG), a group of rare genetic disorders affecting protein and lipid glycosylation and glycosylphosphatidylinositol anchor biosynthesis. The (re)use of known drugs for novel medical purposes, known as drug repositioning, is growing for both common and rare disorders. The latest innovation concerns the rational search for repositioned molecules which also benefits from artificial intelligence (AI). Compared to traditional methods, drug repositioning accelerates the overall drug discovery process while saving costs. This is particularly valuable for rare diseases. AI tools have proven their worth in diagnosis, in disease classification and characterization, and ultimately in therapy discovery in rare diseases. The availability of biomarkers and reliable disease models is critical for research and development of new drugs, especially for rare and heterogeneous diseases such as CDG. This work reviews the literature related to repositioned drugs for CDG, discovered by serendipity or through a systemic approach. Recent advances in biomarkers and disease models are also outlined as well as stakeholders’ views on AI for therapy discovery in CDG.


Sandra Brasil
Mariateresa Allocca
Salvador C. M. Magrinho
Inês Santos
Madalena Raposo
Rita Francisco
Carlota Pascoal
Tiago Martins
Paula A. Videira
Florbela Pereira
Giuseppina Andreotti
Jaak Jaeken
Kristin A. Kantautas
Ethan O. Perlstein
Vanessa Dos Reis Ferreira


Congenital Disorders of Glycosylation
drug repositioning; AI in drug discovery; orphan drugs; disease models; biomarkers

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