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Our community is in a relentless pursuit of therapies! 

Non - nutritional replacement therapies for CDG 

 

Gene therapy is being considered for the following CDG types:

  • GNE-CDG (more information about this specific CDG type HERE, HERE, HERE and HERE)
  • PIGA-CDG (more information about this specific CDG typeHERE and HERE)
  • SRD5A3-CDG (more information about this specific CDG type HERE, HERE HERE and HERE)

About GNE-CDG: is characterized by a progressive muscle weakness due to defects in the GNE gene that is crucial for the production of a diverse family of sugars - the sialic acids. Thus, you may find that this condition is referred to as neuromuscular or CDG. Watch the video below to learn about what is GNE Myopathy. Watch the following videos below to learn more about what GNE-CDG is, its journey to gene therapy and read about the International Gene Therapy Development Program (IGTDP) here.

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About the Road to Gene Therapy for GNE Myopathy 

About PIGA-CDG: is a rare and potentially devastating metabolic disorder that affects development across many systems of the body. Watch the video below and learn more about the function of PIGA in the human body, the symptoms of the disorder and potential areas of research for treatment. 

About SRD5A3-CDG: is an inherited condition that causes neurological and vision problems and other signs and symptoms. The pattern and severity of this condition's features vary widely among affected individuals.

 

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!

 

Gene therapy can potentially help all CDG, as it is capable of correcting the faulty gene copies that cause CDG.

What is gene therapy?

Gene therapy is a type of treatment that “corrects” patients’ genes to potentially treat or prevent diseases. The faulty gene is replaced with a copy of a healthy gene using a transport vehicle (also called a vector, which is usually a virus) to transport the healthy gene and introduce it into the cells. The goal of gene therapy is to treat a genetic disease by correcting the defect within a person’s DNA (read more here). It is a very promising and challenging therapy.

Watch the video released by the U.S. Food and Drug Administration entitled Gene Therapy Inside Out:

The American Society of Gene & Cell Therapy (ACGCT) has released a series of videos that helps to understand Gene therapy.

Watch below the Basics about Gene therapy. And learn more here.

National Organisation for Rare Diseases RareEDU™ released the video below, Gene Therapy: Your Questions Answered, in order to address a vital topic to today's rare disease community. The goal of this video is to address the questions, hopes and concerns that patients and caregivers, across many different diseases, have about gene therapy. Since more than 80% of rare diseases are believed to be genetic, this video will serve as a helpful resource for the rare disease community.

Watch the video below about vectors that are essentially vehicles designed to deliver therapeutic genetic material, such as a working gene, directly into a cell.

During the educational session below, experts in the field reviewed different gene therapy approaches, disease applications, and research processes, and described the current state of the field.

During the forum below, key stakeholders in the space presented a variety of novel models for the development of gene therapy for people with ultra-rare diseases and those living in countries with lower income economies.

The following website here, the video and the infographic below from American Society of Gene & Cell Therapy (ACGCT) explain the difference between gene therapy, cell therapy, and gene editing.

Complete your knowledge with available resources to help you better understand this therapeutic approach, including 

Defining_The_Approaches

 

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:

 Subscribe our Newsletter

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 - 16:56