Vol. XXVII - April 2025 | Email Us | CDGCARE.org

In this Issue

CDG Conference - Save the Date!
Celebrating Emmett's Legacy Fund
CDG Community Connection Kickoff
Research Highlights & Updates
CDG Hub is Hiring
May 16th - CDG Awareness Day

CDG CARE Announces 2026 Scientific

& Family Conference – Save the Date!

SAVE THE DATE… April 24–26, 2026!!

Join us for the 2026 CDG Scientific & Family Conference in Florida at the Hilton Orlando Lake Buena Vista - Disney Springs Area!

CDG CARE is thrilled to announce that planning is officially underway for the 2026 CDG Scientific & Family Conference! This exciting event will bring together families, clinicians, researchers, and industry partners for a powerful three-day experience at this Official Walt Disney World Resort located directly across from Disney Springs.

Mark your calendars and get ready to be part of a one-of-a-kind opportunity to connect, learn, and be empowered. We hope that you will consider joining us as we unite and enhance CDG research, knowledge, and empower all CDG types through education and collaboration.

More details and a tentative agenda will be shared soon. Stay tuned!

Celebrating 5 Years of Emmett’s Legacy Fund: Spreading Hope Across Continents

CDG CARE, in partnership with the incredible Nguyen family, is thrilled to announce that the 2025 Emmett’s Legacy Fund program has awarded more than $34,000 in its latest round of funding!

Thanks to this generous program, 18 families from the USA, Canada, Mexico, Brazil, and Romania will soon receive critical therapeutic and medical equipment that will make a real difference in their child's everyday lives.

Families living with CDG face countless challenges, and this fund is here to help lighten the load. Whether it’s specialized mobility gear, feeding support, or other life-enhancing tools, these resources are designed to bring comfort, independence, and relief.

Be sure to follow us this summer on the CDG CARE Facebook Page, where we’ll spotlight the stories and equipment made possible by Emmett’s Legacy Fund in our annual social media series!

To learn more about the remarkable life of Emmett, visit www.lifebyemmett.com, and for more information about PIGA-CDG, please visit www.PIGA-CDG.org.

Introducing CDG Community Connection:

A New Way to Engage and Empower

the CDG Community

On Tuesday, May 6th, CDG CARE is proud to launch CDG Community Connection, a collaborative forum created just for our community.

Open to all CDG types and all locations, this space is designed to build stronger connections, shape the future of CDG research and have your voice be heard

Join at a time that works best for you:

11:00 AM ET
7:00 PM ET

(Each session is one hour)

What to Expect at Our First Gathering

Meet the CDG CARE Core Team
Start conversations that will shape the future of CDG research
Identify key challenges across all CDG types - from diagnosis to daily life
Get a preview of what’s to come, including expert Q&As, family-led webinars, community trainings, and more!

Why Your Voice Matters

Guide CDG research priorities through lived experience
Help shape resources and support
Ensure that every CDG voice is heard, valued, and included

Registration

This is just the beginning and we can’t wait to grow, connect, and learn with you.

FCDGC Update: Your Voices Are Being Heard!

We are incredibly grateful for the outpouring of support shown by the CDG community over the past two weeks.

Thanks to the calls, emails, and advocacy from our community, the message is being heard loud and clear — not only at the NIH, but also in the halls of Congress. Ongoing calls and follow-up outreach to legislators and Congressional officials continue to make an impact!

While April 22, the scheduled review date for the FCDGC application, has passed without a review, this fight is far from over. Other Consortia are still awaiting their review dates, and we stand together, strong and determined. Your efforts are making a real difference, and we are proud to be part of such a compassionate and powerful community.

We will continue to keep the CDG community informed and involved as this situation evolves. Your voice matters, and we are not giving up!

The Therapeutic Future for CDGs:

Where We’re Headed Next

The world of CDG research is evolving rapidly, and with it, new therapies are emerging that hold real promise for individuals and families. But alongside this exciting progress comes an important question: How do we test and deliver these treatments to the people who need them most?

In a new article published in the Journal of Inherited Metabolic Disease, leading experts explore how disease models, smarter clinical trial design, and collaborative approaches, like “basket trials” and AI-assisted drug repurposing, can help speed up the development of effective treatments for multiple CDG types.

CDG CARE’s Director of Research, Dr. Kristen Skvorak, has summarized this important publication to make it accessible to our community.

Read More to explore how researchers are reshaping the future of CDG treatments - and what it could mean for your family.

Goal Attainment in PMM2-CDG: A New Approach Measuring Meaningful Clinical Outcomes

Patient-centered outcomes, including patient-reported outcomes (PROs), are increasingly important in healthcare and to appropriately design clinical trials. Unfortunately using PROs in rare diseases is still limited.

Patients with Phosphomannomutase 2-CDG (PMM2-CDG) have highly variable clinical severity, underscoring the need for personalized outcome measures. We used a so far unexplored, individualized approach, the so called Goal Attainment Scaling (GAS), in our natural history study for CDG, which allowed patients to set and track personal goals over time.

We evaluated 93 PMM2-CDG patients assessing goal achievement prospectively. We also analyzed potential associations between GAS and factors such as age, sex, genetic background, and disease severity measured by the Nijmegen Progression CDG Rating Scale (NPCRS).

The most common goals set by patients were related to mobility (31.5 %) and communication (26.8 %), with additional goals focused on body function (22.8 %) and independence (18.8 %). Of the 68 patients with follow-up data, 23.5 % showed no improvement in their goals, while 20.6 % improved in all three personal goals.

It is very important to note, that there was no significant correlation between NPCRS score changes assessed by medical providers, and GAS improvement. Emphasizing the importance of patient set goals in severity scaling GAS is a valuable additional outcome measure that ensures clinical improvements are meaningful for patients and their representatives, helping to assess individual goals and overall wellbeing.

[Click to read full article ]

A Thought on Drug Repurposing:

Hope, Science, and Shared Progress

by Ivan M. Duncker, MD ScD – Scientific Advisor, CDG CARE

In the ever-evolving world of rare disease research, drug repurposing offers a powerful blend of promise and practicality, especially for the CDG community. In this thought-provoking article, Dr. Ivan Duncker explores how previously tested compounds can open new doors for treatment, the challenges we face moving from lab to life, and the importance of shared progress across all CDG types. With honesty, clarity, and compassion, he reminds us that the journey to breakthrough therapies requires more than science - it demands trust, collaboration, and a deep commitment to every family’s hope.

[Read the full article here]

Exciting Research News in

PMM2-CDG Gene Therapy

A groundbreaking study from researchers at the University of Utah has demonstrated that AAV9-based gene replacement therapy can prevent and even halt neurological symptoms in a newly developed mouse model of PMM2-CDG which is the most common form of congenital disorders of glycosylation.

Using a tamoxifen-inducible knockout mouse model that mimics the neurological effects seen in PMM2-CDG patients, scientists found that delivering a functional PMM2 gene via AAV9 restored glycosylation function and significantly improved neurological outcomes. These promising results mark an important step toward a future therapeutic option for patients diagnosed with PMM2-CDG.

Click here to read the full article in Gene Therapy

Hiring: Scientific Writers for CDG Hub

CDG Canada and the Sappani Foundation are thrilled to announce an exciting opportunity to join the CDG Hub team this summer through the Canada Summer Jobs (CSJ) Program!

CDG Hub (www.cdghub.com) is a first-of-its-kind online knowledge base dedicated to congenital disorders of glycosylation. Our mission is to educate researchers, medical professionals, patients, and families, raise public awareness, and foster international collaboration to accelerate CDG research and discoveries.

We are hiring two remote, part-time Scientific Writers to help us grow this important community resource.

About the Role:

As a Scientific Writer, you will:

Review and interpret scientific and medical literature
Create engaging, accurate, and accessible educational content on various CDG types for the website

Start date is flexible between May 1^st and July 7^th.

Qualifications:

Background in life sciences (enrolled in or completed MSc/PhD preferred, exceptional undergraduates will also be considered)
Strong writing and research skills
Ability to access full-text scientific literature via PubMed or other research databases
Prior experience with CDG or glycobiology is an asset

CSJ Program Eligibility Requirements:

To apply you must:

Commit to 30 hours/week for 9 weeks
Be 30 years old or younger at the start of the position
Be a Canadian citizen, permanent resident, or person with refugee protection under IRPA for the duration of the employment period
Have a valid Social Insurance Number (SIN) and be legally entitled to work in Canada

To apply, please send your CV and a cover letter to Kristin Kantautas: research@sappani.com

Help Shape the Future of PMM2-CDG - Share Your Story by May 5th

Whether you are a patient living with PMM2-CDG or caring for someone who is, we are looking to hear your story and turn the challenges of this journey into opportunities for progress.

We’re halfway to our goal, and we’re still looking for more participants to take part in a virtual 60-minute interview study focused on the real-world experiences of those affected by PMM2-CDG.

We are especially seeking:

Adult patients (18+)
Teen patients aged 12–17
Caregivers of PMM2-CDG patients of any age

This is one of the easiest and most impactful ways to contribute to clinical research, from the comfort of your home. Your insights will directly help shape future treatments, support tools, and care strategies for the CDG community.

Participants will receive $175 compensation for their time.

Don’t wait, interview slots must be scheduled before May 5th!

To get involved, simply email: GLY10075A@adelphivalues.com

World CDG Awareness Day is Almost Here

Mark your calendars for May 16th!

CDG CARE is proud to launch our 2025 CDG Awareness Day campaign, and we’re inviting YOU to be part of it. Visit our brand-new CDG Awareness Day page at cdgcare.org/cdgawarenessday, your go-to guide to celebrate, support, and GO GREEN for CDG!

Here’s how you can join the movement:

✅ Submit your event to be featured

✅ Start a personalized fundraiser for CDG CARE

✅ Get your official CDG Awareness Day swag here

Community Spotlight:

This year, we’re thrilled to highlight Sophia’s family, who hosted a beautiful awareness event at her school to honor Sophia and raise awareness for ALG1-CDG. They handed out CDG stickers, tattoos, and personalized community flyers to help educate classmates and staff. It was a heartfelt celebration and a reminder that anyone can make a difference.

Get inspired. Get involved. Let’s go green together! 💚