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.
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:
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.
Complete your knowledge with available resources to help you better understand this therapeutic approach, including
- What is gene therapy? here and here
- Visit NORD section about Understanding the Importance of Gene Therapy for Rare Diseases
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).
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