How can you help our CDG community? It 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!

Our community is in a relentless pursuit of therapies! 

Nutritional replacement therapies for CDG 

 

Aceneuramic acid extended-release (Ace-ER) is considered for the following CDG types:

  • GNE-CDG  (more information about this specific CDG type HERE, HERE, HERE and HERE)

About GNE-CDG: is characterized by a progressive muscle weakness due to defects in the GNE gene that is crucial for the production of a diverse family of sugars - the sialic acids. Thus, you may find that this condition is referred to as neuromuscular or CDG. Watch the video below to learn about what is GNE Myopathy. 

What is Aceneuramic acid extended-release (Ace-ER)?

Aceneuramic acid extended-release (Ace-ER) was a synthetic form of sialic acid developed by the pharmaceutical company Ultragenyx. This artificial sialic acid has been developed to increase the time that this sugar lasts inside our cells (XR or ER is short for extended-release which means the pill is formulated so that the drug is released slowly over time. This has the advantage of taking pills less often and there may be fewer side-effects as the levels of the drug in the body are more consistent in extended-release formulations. Source: here).

How can Aceneuramic Acid help people living with GNE-CDG?

GNE-CDG is characterized by a progressive muscle weakness due to defects in the GNE gene that is crucial for the production of a diverse family of sugars - the sialic acids. Thus, you may find that this condition is referred to as neuromuscular or CDG. Watch the video below to learn about what is GNE Myopathy.

As the sialic acid is rapidly eliminated from our body, this new synthetic sialic acid stays inside the cells for a longer period of time which means that the patients need to take pills less often and also minimizes possible side effects. 

UX001, aceneuramic acid extended-release (Ace-ER) was a treatment in clinical development that was intended to replace deficient sialic acid in patients with GNE myopathy. Results from a phase 3, double-blind, placebo-controlled, randomized, international trial, showed Ace-ER was not superior to placebo in improving muscle strength and function in patients with GNE myopathy. Given these results, clinical development of this therapy was terminated. Read more here. 

 

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.

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Should you need more details please do get in touch with our Team

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For further learning about CDG, move ahead to our community tailored sections across https://worldcdg.org/  

 

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Authors

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).

Disclaimer

The Site cannot and does not contain medical or health advice. The information is provided for general informational and educational purposes only and is not a substitute for professional advice.

Accordingly, before taking any actions based upon such information, we encourage you to consult with the appropriate professionals. We do not provide any kind of medical or health advice. The use or reliance of any information contained on this site is solely at your own risk.

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CDG
Congenital Disorders of Glycosylation

Page modified at Monday, July 11, 2022 - 16:44