How many people live with CDG?

As CDG symptoms  are so broad, many people living with CDG are not recognized or  are even misdiagnosed. This means that it is very difficult to be sure about its real prevalence. Also, there are a few patient registries such as CDG Connect (here)  and MetabERN (here). They play a crucial role because it “is important to collect critical information to understand the history and progression of CDG, to make it easier for researchers to study CDG, for people living with CDG and families to learn about CDG treatment options, and for advocates to speak on behalf of the CDG community” (Source: here). Still, for the most common CDG - PMM2-CDG - approximately 1000 people living with CDG are known worldwide.

More about patient registries in rare diseases like CDG

Watch an introductory video about patient registries, aimed at small rare disease patient groups. To find out more about how to set up a registry,

Sound drug development requires a comprehensive understanding of the disease being treated. To design reliable clinical studies and achieve meaningful outcome measures, researchers must apply known etiology and thorough knowledge of the disease’s progression. For rare diseases, this information is often minimal at best: patient numbers are small and historical data is spread across treating physicians who operate around the world (more information here).

What is a registry and why are they so important to the rare disease community? 

Together, NORD and the Critical Path Institute (C-Path) created the video found below to explain the value in registries and why people living with CDG and patient organizations should participate in them.

Check below the presentation recorded by National Organization for Rare Disorders (NORD) about Patient Registries: What They Are and How to Start One.

Watch the video released by EURORDIS about recommendations to create Rare Disease Registries:

Check below the presentation recorded at Findacure's webinar about Building an international patient registry, with Pulse Infoframe:

More about patient registries: 

  • The European Rare Disease Registry Infrastructure (ERDRI) renders rare disease registries' data searchable and findable.The following documentation here provides an overview of the functions of the ERDRI.dor
  • Check below the presentation recorded at Findacure's "Building a rare disease patient registry" workshop on 17th September 2019.

Learn more about CDG, move ahead to our community tailored sections across https://worldcdg.org/ and read the following reliable sources of information: 

  • Dedicated to CDG from Children’s hospital of Philadelphia here
  • NORD offers an overview about CDG here
  • Visit the new Genetic and Rare Diseases (GARD) Information Center Website here. Also to know its features watch Rare Diseases are Not Rare – A Training on Rare Disease Resources
  • Mayo Clinic Congenital Disorders of Glycosylation (CDG) Clinic sees website here
  • Orphanet, the portal for rare diseases and orphan drugs offers summaries here

“It is of extreme importance that every person in the CDG community becomes one united voice and takes every conquest in a specific CDG as a victory for the whole community. It is important to keep this in mind because CDG are all connected and a new finding regarding one of them will give tools to improve basic and therapeutic research in the others.” By Vanessa Ferreira, sister to Princess Liliana who lives with CDG.

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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 Rita Francisco (CDG & Allies, World CDG organisation and Portuguese Association for CDG), Alice Neves 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
Number of CDG Patients
CDG Patient Registries
Patient Registries
Rare Diseases

Page modified at Wednesday, June 22, 2022 - 14:57