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Our community is in a relentless pursuit of therapies! 

Non - nutritional replacement therapies for CDG 

 

Palovarotene is being considered for the following CDG type:

  • EXT1/EXT2-CDG or Multiple osteochondromatosis (MO) (more information about this specific CDG type HERE, HERE,HERE, HERE and HERE)

About EXT1/EXT2: Defects in the EXT1 and EXT2 genes cause multiple osteochondromatosis (MO), or EXT1/EXT2-CDG, an autosomal dominant disease that causes multiple benign bone tumors that are covered by cartilage (osteochondromas). Read more here.

 

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!

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What is Palovarotene? 

Palovarotene is a drug studied for chronic obstructive pulmonary disease (COPD), but that showed no positive effects in clinical trials.

How can Palovarotene benefit people living with EXT1/EXT2-CDG?

Defects in the EXT1 and EXT2 genes cause multiple osteochondromatosis (MO), or EXT1/EXT2-CDG, an autosomal dominant disease that causes multiple benign bone tumors that are covered by cartilage (osteochondromas). They grow often on the growing end of the long bones of the legs, arms, and fingers. Palovarotene stopped the growth of these benign bone tumours in a mouse model of the disease. Hence, palovarotene was repurposed for the treatment of EXT1/EXT2-CDG. 

A randomized, double-blind, placebo-controlled phase 2 clinical trial (ClinicalTrials.gov NCT03442985) was conducted between 2018 and 2020. The trial was terminated early to analyze the accumulated data and evaluate the efficacy, safety and future of palovarotene as treatment for this CDG. After the evaluation of the results of this clinical trial, the pharmaceutical company Ipsen, was granted authorization to initiate a new trial to evaluate the effect of palovarotene in patients over 14 years of age (ClinicalTrials.gov NCT05027802).

 

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.

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:

 Subscribe our World CDG magazine

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