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Our community is in a relentless pursuit of therapies! 

Non - nutritional replacement therapies for CDG

 

Acetazolamide is being considered for the following CDG type:

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.

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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!

 

What is Acetazolamide?

Acetazolamide is a medicine used to treat glaucoma (a group of eye conditions that damage the optic nerve, vital for good vision). It is also used to treat ataxia, one of the major clinical signs of PMM2-CDG. To learn more, the following website lists Acetazolamide’s uses and side effects: Acetazolamide Uses, Side Effects & Warnings - Drugs.com

How can PMM2-CDG patients benefit from this therapy?

In PMM2-CDG, acetazolamide can be used to help control epilepsy and seizures and has been shown to be effective for motor cerebellar syndrome. A clinical trial for the assessment of the efficacy and safety of acetazolamide therapy in PMM2-CDG patients in the USA is being set-up (ClinicalTriasl.gov NCT04679389). To learn more about this therapeutic approach and how Acetazolamide works, watch this video:

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.

We are here to help
Should you need more details please do get in touch with our Team

Ensure that you are up to date, and join our mailing list:

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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 - 16:55