Vol. XXI - July 2023 | Email Us | CDGCARE.org
In this Issue
  • 2024 CDG Scientific & Family Conference
  • Progress in Patient-Led Research Initiatives
  • CDG CARE Awards 2023 Research Grant
  • GlycoCAST - The NEW Podcast for the CDG Community
  • Research Updates & Publications
  • World CDG Organization Education & Resources

Let's Come Together!
Celebrate Rare! Celebrate CDG!
Mark Your Calendars...
CDG CARE is excited to invite our CDG medical professionals, researchers and families to the upcoming, in person, CDG Scientific & Family Conference, March 1 - 3, 2024!
This event, "CDG Models and Therapy", is being organized by CDG CARE in partnership with the Sanford Children's Health Research Center and Sanford Burnham Prebys and will be held at the Paradise Point Island Resort in the beautiful vicinity of Mission Bay, San Diego, California.
Visit our EVENT PAGE to access the most current conference information, preview the tentative agenda (coming soon!), lock in your discounted resort accommodations, learn about family scholarship opportunities, and find out how and when you can register to join us for this collaborative educational opportunity!

To make this event possible, we are also in need of SPONSORS!!

Calling all families, nonprofit and corporate partners who share an interest in our cause!

Sponsorships help us keep registration costs reasonable, provide the highly anticipated therapeutic daycare program for up to 50 children affected by CDG and their siblings, and offer travel scholarship opportunities for first time Conference attendees – just to name a few!

Please check out our 2024 Sponsorship Opportunities materials or contact us at [email protected] to arrange a contribution that is the best fit for you.

We look forward to reuniting with our CDG Community, meeting new faces and welcoming newly diagnosed families to sunny San Diego very soon!!
Patient-Driven Research Projects Paving the Way for CDG Treatments on the Horizon
Following the collaborative momentum and patient interest in driving research after the 2022 CDG Scientific & Family Conference, CDG CARE launched an initiative to advance and diversify patient-led research opportunities for our community. Through this program, CDG CARE sponsors new research and time-limited projects, as well as more established grassroots projects that are mutually agreeable and advance both the project and CDG CARE’s mission.

Over the past year, we are delighted to share that this initiative has been tremendously successful and that research programs have been launched for many CDG types!

Through these partnerships with families, we have raised over $750,000 and funded more than $478,000 toward drug repurposing, CDG model therapy and gene therapy projects! 

CDG CARE Board member and parent of the PIGN-CDG community research project, Ashleigh Linthicum, shares... "The PIGN Drug Repurposing Project has been in full swing for just over a year now. While initial efforts of this project to grow yeast models for PIGN posed a challenge, our research partner, Perlara, recommended that we shift our focus to temperature sensitive models and find an academic lab to continue the research. This proved successful, and Perlara was able to then use the temperature sensitive models to find several drugs hits that “rescue” the mutated yeast. We are now moving forward with testing a larger sample of drugs to see if this expanded library will have different or better results. Once this step is complete, we’re ready to start attempting to rescue the mutations on fibroblast samples that have been collected from PIGN-CDG families around the globe!"

To read more about the latest PIGN-CDG Research update from Perlara, Click HERE.
To learn more about the projects that are currently underway, visit the newly updated CDG CARE Homepage TODAY!
CDG CARE Awards 2023 Research Grant
CDG CARE is honored to partner with the Frontiers in CDG Consortium (FCDGC) each year to seek innovative research projects that exclusively focus on CDG related science and aim to have a high impact to improve patient care.

Through this collaboration, CDG CARE has already funded $150,000 toward basic science and clinical trial opportunities for our community and we are honored to announce that donor support has enabled us to fund a new $50,000 research grant to Washington University in St. Louis!

Through this innovative research project, Dr. Sarah Ackerman and her team recognize that neurological dysfunction is a primary source of discomfort for CDG patients, yet the cellular basis of this dysfunction is not well understood. Her team will leverage zebrafish as a model system to rapidly test the function of CDG genes in glia versus neurons to define new cellular targets for therapeutic interventions.  

To learn more about the Ackerman Lab at Washington University in St. Louis, Click HERE.
GlycoCAST... A journey about families,
sugars and rare disorders
CDG CARE is excited to announce the launch of a new podcast that takes you on a compelling journey through the intersecting worlds of families, science, and rare disorders. GlycoCAST embarks on an enlightening exploration, delving into the intricacies of rare diseases, particularly Congenital Disorders of Glycosylation (CDGs).

GlycoCAST's insightful hosts, Dr. Ivan Martinez Duncker, a Glycobiology Researcher, and co-host Karen Morici, a PMM2-CDG mom and patient advocate, will lead you through a series of thought-provoking discussions, offering unique perspectives from both the researchers and the caregiver.

GlycoCAST is dedicated to shedding light on the challenges, triumphs, and untold stories of families navigating the unchartered territories of rare disorders as well as conversations with scientists and rare disease specialists from around the world.

So, tune in to GlycoCAST FIRST EPISODE HERE, and follow on Spotify as they unravel the mysteries, celebrate resilience, and foster understanding about the profound impact of CDG and other rare diseases on the lives of those it touches.
Coagulation Abnormalities in a Prospective Cohort of 50 Patients with PMM2-CDG
FCDGC investigators recently published a new paper studying blood clotting problems in PMM2-CDG patients titled, “Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation”: https://pubmed.ncbi.nlm.nih.gov/37224763/

It is known that many PMM2-CDG patients have problems with clotting too much or bleeding too easily, which can be dangerous. However, there wasn't much information about how common these problems are and how they change as patients get older.

To learn more, the FCDGC Natural History study followed 50 PMM2-CDG patients over the course of 2 years.

FCDGC investigators found that about 16% of PMM2-CDG patients had issues with easy bleeding or bruising and 10% had a clotting problem over those two years. They noticed that those who had clotting issues had low activity of a protein called ATIII, which helps prevent blood clots. However, if their ATIII activity was at least above 65% (normal range is 80-130%), there was not an increased risk of clotting.

Interestingly, most PMM2-CDG patients had stable levels of clotting factors (like ATIII) over the two years of the study. This suggests that clotting factor levels could be helpful for estimating the risk of a patient developing clotting problems and may be useful to monitor in clinical trials of new treatments. In summary, the FCDGC study gives us more information about how blood clotting works in PMM2-CDG, gives us a new biomarker for clinical trials in PMM2-CDG, and guides physician on how to interpret abnormal values.
Tracer Metabolomics Reveals the Role of
Aldose Reductase in Glycosylation
Radenkovic et al made a new discovery related to PMM2-CDG. The researchers found that in PMM2-CDG, there is an increase in the enzyme aldose reductase (AR) and the resulting substance sorbitol.

On the other hand, GDP-mannose, an essential metabolite for the glycosylation process, is decreased. They conducted experiments to inhibit AR with epalrestat and observed a decrease in sorbitol levels and an increase in GDP-mannose levels, indicating a potential improvement in glycosylation. 

To test the clinical benefits of epalrestat, they treated 3 PMM2-CDG individuals with oral epalrestat therapy, for more than one year and observed improvement in several clinical parameters. Based on these findings, epalrestat is currently undergoing phase III clinical trial: Tracer metabolomics reveals the role of aldose reductase in glycosylation - ScienceDirect
World CDG Organization:
Education & Resources
World CDG Awareness Day...
Keep Raising Awareness!
This year's campaign Toolkit for World CDG Day provided all the information needed to prepare for awareness and media outreach activities as we build up to creating a month-long calendar for raising CDG awareness through May. It outlines the overarching theme of this year’s campaign – #StandUnited4CDG – along with the supporting messages, up-to-date statistics, visuals, assets and relevant links.

Take a look at the free materials available to our community to support World CDG Awareness Day: https://worldcdg.org/awareness/world-cdg-day/toolkit
Educating Yourself About
CDG is Vital!
Do you know where to find reliable information and resources about CDG?

Do you always follow credible social media sources? Always verify the source and author‘s credibility?

The internet can be a great resource. Although, online information and related resources should be viewed with caution. And accurate and reliable information on genetic and rare diseases among the millions of online sources is a difficult task for almost everyone. In addition, many health websites have no guidelines governing the quality of their material. Check their sources and don't rely on one website.

Check the information we prepared for you at What to look for before trusting a website with CDG information and resources? And, take into consideration that CDG health information evolves. Researchers constantly learn about CDG.

In this section you will find:
Research led by our community

Have you had a chance to dive into our recently published CDG and Allies Activity Report for 2022 and Work Plan for 2023?

We‘re thrilled to share our progress and future plans with you! At CDG and Allies, our initiatives and activities are driven by the spirit of co-creation with our incredible CDG families.

We believe that collaboration and shared experiences are the key to building a supportive and inclusive community.

Please read below the CDG and Allies Activity Report 2022 and Work Plan for 2023