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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!

Non-Nutritional replacement therapies for CDG 

Liposomal therapy is considered for: 

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. 

Learn more about PMM2-CDG, watch the video below produced with support from the Amour Fund.

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What do we know about liposomes in the treatment of PMM2-CDG? 

Glycomine is developing GLM101, a mannose-1-phosphate replacement therapy. GLM101 contains mannose-1-phosphate within tiny spherical “bubbles” made of lipids (fat) called liposomes.  Liposomes have been used as drug delivery vehicles for administration of many nutrients and pharmaceutical drugs (like the Moderna and Pfizer COVID19 vaccines). GLM101 is given directly into the vein of the patient using a needle or tube through an intravenous (IV) infusion, so that it can better enter the body’s cells.

Learn more about Liposomes: Structure, Classification, and Applications, here.


To better understand what liposomes are watch the following lecture from Andrey K:

To know more about Glycomine’s method to increase the uptake of mannose -1-phosphate by the patient's body, watch the video below “Designing a potential treatment for PMM2-CDG”.

Furthermore, GLM101 is Glycomine’s first drug from its platform and is designed to intracellularly deliver mannose-1-phosphate as a potential treatment for PMM2-CDG (also known as CDG-1a). Glycomine finished a clinical study in healthy volunteers, and will soon start GLM101 clinical trials in PMM2-CDG patients in several countries and has received Orphan Drug Designation (ODD) in the U.S. and Europe and Rare Pediatric Disease Designation (RPDD) in the U.S.  The purpose of this first study in PMM2-CDG patients sponsored by Glycomine, Inc., is to help researchers understand what effects GLM101, has on people with PMM2-CDG.  The information learned in the study may help doctors and benefit patients with PMM2-CDG in the future.

 

Learn more about the orphan designation (EU/3/18/2047)granted by the European Commission to Glycomine SARL, France, for liposomal mannose-1-phosphate for the treatment of phosphomannomutase 2-congenital disorder of glycosylation. Read here.

 

Clinical trial of GLM101 for the treatment of PMM2-CDG

The company recently finished a study dosing healthy volunteers in an open-label Phase 1 clinical study to evaluate safety and tolerability. Read more here

 

A natural history for PMM2-CDG 

To learn more about how PMM2-CDG affects patients, Glycomine has initiated a natural history study in 2018, which is the largest longitudinal study ever undertaken for this disease, called study GLY-000. In this study, 139 participants with PMM2-CDG were enrolled. In that study, Glycomine discovered that a proportion of patients with PMM2-CDG have low cortisol levels. This is important to know, because low cortisol levels can be treated (Read more about these findings in the following article entitled “Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?” and that you can access HERE). 

For more information about this ongoing study (GLY-000) please visit clinicaltrials.gov and read at  https://clinicaltrials.gov/ct2/show/NCT03173300

But what is a natural study? 

A natural history study helps researchers understand how a disease may affect people with the disorder over time. Natural history studies are often the first step in developing a research program for a disease because they help provide the foundational science that informs how to care for people, identify and measure signs and symptoms that potential therapies can treat or modify, and help us design clinical trials that are likely to provide good quality information on how candidate therapeutics affect the disease. In this webinar, an introduction to natural history study design and content, and how this information can be used to advance research will be provided, as well as how to find available resources to help start and build a natural history study.

Findacure released the Webinar entitled the Natural history studies for rare disease. Watchit:

 

Genetic alliance shared a lecture about The Importance of Natural History Studies

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.

The therapeutic pipeline of potential treatments for CDG has never been so full of promise!

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 - 16:22