Our community is in a relentless pursuit of therapies!
Non - nutritional replacement therapies for CDG
Aldose reductase inhibitor 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.
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 an Aldose reductase inhibitor?
Aldose reductase inhibitors make the aldose reductase protein work slowly and have been developed for the treatment of diabetes. Aldose reductase is a protein that uses glucose (a type of sugar) to make sorbitol. When glucose levels are high (e.g. diabetes), the aldose reductase protein starts to work to remove the glucose from tissues that are not sensitive to the action of insulin, particularly the optic lens, the peripheral nerves and the glomerulus. This leads to retinopathy and neuropathy in diabetic patients.
How can this help people living with PMM2-CDG?
Patients with PMM2-CDG have imbalances in sugar metabolism pathways, including the aldose reductase ability to work. The company Applied Therapeutics has been developing an aldose reductase inhibitor, called AT-007. Initial data in fibroblast cell lines derived from patients with PMM2-CDG demonstrates that AT-007 increases PMM2 activity and may provide therapeutic benefit in PMM2-CDG patients. Applied Therapeutics plans to initiate a clinical study in PMM2-CDG patients in 2021.
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).
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.