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Our community is in a relentless pursuit of therapies! 

Non - nutritional replacement therapies for CDG

 

Epalrestat 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 Epalrestat?

Epalrestat is a medication used for the treatment of diabetes-related  manifestations. Epalrestat inhibits or reduces secondary complications induced by diabetes and prevents nerve deterioration (diabetic neuropathy). It relieves numbness/pain of the hands, feet and legs, which are the commonly experienced complications of diabetes.

How can epalrestat help people living with PMM2-CDG?

Epalrestat was tried in a worm model of PMM2-CDG and also in patients' cells with good results. This prompted a one-patient trial to test safety and effectiveness. Epalrestat was well tolerated and was able to improve the transferrin glycosylation profile, as well as weight, appetite and absorption. Disease progression was also improved with epalrestat therapy. For more information access a poster here. A new clinical trial with a higher number of patients is being set-up (NCT04925960). More recently, a second patient has also been included in the trial.

 

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

 

Epalrestat is a clear example of the power of parents-led therapeutic research. Maggie’s Cure LLC was started by the parents of a child with a rare genetic disease called PMM2-CDG. In 2017 Maggie’s Cure began work with Ethan Perlstein, founder of Perlara, the first biotech public benefit corporation focused on partnering with families to find treatments for rare genetic diseases. Perlara’s approach was to gather insights from under-used yeast, worm and fruit fly models as well as skin cells from rare disease patients to point researchers toward repurposed drugs that would treat and improve the lives of PMM2-CDG patients. The models were built and used for high-throughput screening of known drugs. Continue reading at https://www.maggiespearl.co/about 

Watch the webinar given by Ethan Perlstein,founder of Perlara, at CDRC 2021 Annual Meeting: Individualized drug repurposing for the long tail of genetic diseases:

Read an interview led by InVivo Biosystems Blog on Drug Discovery  and where researchers explanin the Path to Affordable Therapeutics in Rare Disease: Tackling Congenital Disorder of Glycosylation in the PMM2 gene

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 Tuesday, December 6, 2022 - 18:59