Our community is in a relentless pursuit of therapies!
Non - nutritional replacement therapies for CDG
Pharmacological Chaperones (PCs) are being considered for the following CDG types:
About PMM2-CDG: formerly known as congenital disorder of glycosylation type 1a, is a rare multisystem disorder that involves a normal, but complex, chemical process known as glycosylation. It is an inherited condition that affects many parts of the body. The type and severity of problems associated with PMM2-CDG vary widely among affected individuals, sometimes even among members of the same family.
How can you help our CDG community? Is easy! Share among your social media and other channels the information we make available within this section and website. This raises awareness, accelerates diagnosis, and secures better care and management for our CDG children and adults!
Pharmacological chaperones can also help patients living with other CDG, as long as the defective protein still has some (even if small) ability to work.
What are pharmacological chaperones?
Pharmacological chaperones (PCs) are small molecules that can stabilize the shape and structure of a faulty protein. You can imagine them as crutches which will help the faulty protein work better. For more information, visit this website and here.
Pharmacological chaperones have ceased to be a niche category and have entered the clinical practice for some rare diseases caused primarily by protein instability.
Pharmacological chaperones cannot be used by all patients affected by a given genetic disease. They act by binding specifically unstable folded (or partially folded) mutant proteins. Hence they are not useful in all the cases, e.g., in which the protein is absent because the gene is affected by a deletion, a stop gain mutation, a splicing mutation, or a mutation occurring in the regulatory regions. Importantly, apart from pharmacological chaperones, different classes of small molecules can rescue proteins destabilized by mutations and increase their intracellular concentration (Continue reading here).
To better understand the role of pharmacological chaperones, watch this video:
Global genes released a lecture you can watch below dedicated to Rare Therapies: Pharmacological Chaperones and Cell Therapies.
Another lecture by The Kinder-UKE screening platform dedicated to Pharmacological chaperones for the treatment of rare diseases, can be watched below:
Publications in CDG are constantly growing. We have selected articles of special interest for you, see below. Not all are open access, thus if you wish to access the full information, please contact us at https://worldcdg.org/contact
Vanessa Ferreira and Sandra Brasil (CDG & Allies FCT, NOVA University, World CDG Organization and Portuguese Association for CDG). Ines Santos, Tiago Martins, Madalena Raposo from Sci and Volunteer Program Nova School of Science and Technology 2021. Ana Sofia Rodrigues (content management, CDG & Allies FCT, NOVA University, World CDG Organization and Portuguese Association for CDG).
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