Our community is in a relentless pursuit of therapies!
Non - nutritional replacement therapies for CDG
Proteostasis regulators 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!
Proteostasis regulators potentially can help people living with other CDG.
What are proteostasis regulators?
Proteostasis regulators can help the proteins get and maintain the correct shape and structure to function. When proteins have problems in their shape and structure they cannot function well and can become toxic. Proteostasis regulators can also target these toxic proteins to be eliminated. Proteostasis regulators can be used alone or in combination with pharmacological chaperones.
How can proteostasis regulators help people living with PMM2-CDG?
Treatment with one proteostasis regulator called Celastrol increased the function and the stability of the PMM2 protein in a cell model.
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
Keep in mind, you are not alone. Though Congenital Disorders of Glycosylation (CDG) are categorized as “rare” there is an amazing community at your fingertips working day and night to improve the lives of many people living with CDG and their family members. We want you to know everything that is available about therapies in lay language, but we suggest you enter into it at your own pace and comfort level.
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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