Vol. XII - April 2021 | Email Us | CDGCARE.org
In this Issue
  • CDG CARE Family Support Network
  • Patient Resources, Education & Advocacy
  • Research Highlights & Opportunities
  • May 16th is World CDG Awareness Day!
  • Global CDG Patient Registry
Your Support Makes A World of Difference
CDG CARE is thrilled to share our newest program for the global CDG and NGLY1 patient community!

The CDG CARE Family Support Network (FSN) has been created to help families connect and stand united to advance resources, advocacy, and research for all CDGs.

For our patients and children, for our researchers, and for our future... this family focused network will provide the ability to connect, volunteer, help each other, and advance our cause to improve the lives of all families affected by NGLY1 and CDG.

Whether is it connecting families with a new diagnosis, the same CDG type, in a similar area, or with children of a certain age - it is our mission to ensure that the CDG CARE Family Support Network will be the most extensive group of global families reach to assist each other! As ONE Community and ONE voice... We Are Stronger Together!

Take a peek at the frequently updated CDG/NGLY1 Global Map link below, and visit our Website or click on the enrollment form HERE to join the CDG CARE Family Support Network today!
Patient Resources - *New Grant Program*
Today, April 11th, is Emmett Nguyen's heavenly birthday!

In memory of sweet Emmett, CDG CARE is honored to announce the launch of a new medical/therapy equipment grant program for our global CDG & NGLY1 families.

Emmett’s Legacy Fund has been created to remember and honor the life of Emmett, who was born in April 2016 with PIGA-CDG, a rare and devastating genetic metabolic disorder. Emmett was loved by everyone around him, and fought through multiple illnesses and hospitalizations during the course of his short life.

In February 2020, Emmett lost his battle with PIGA-CDG and passed from respiratory complications. His memory lives on and continues to inspire friends and family who followed his story throughout his life.
Emmett’s parents created this fund as a celebration of his life, and as a way to make a meaningful impact in the lives of other children diagnosed with CDG & NGLY1-deficiency. For more information about this grant program, and to submit your application, CLICK HERE

The deadline for application submission is May 9, 2021.

To learn more about Emmett and his life, visit www.lifebyemmett.com. And for additional information about PIGA-CDG, please visit www.PIGA-CDG.org
Patient Education Opportunities
Don't Miss this Event!

The ABCs of Clinical Trials for the CDG/NGLY1 Community is a FREE patient education webinar that is happening in just 10 days!

Every CDG & NGLY1 family will benefit from this program and learn from the experts about the regulatory process of approving treatments, the design and importance of natural history studies, patient registries, and how invaluable patient/family engagement is to the advancement of CDG & NGLY1 treatments. Additionally, you will hear first-hand from a patient about her experience in a clinical trial!

Pre-registration is required for this event. To learn more, review our expert panel, and REGISTER TODAY, CLICK HERE.
Fighting Rare Diseases
Finding Treatments - Bringing HOPE
In Case You Missed It!

On March 18, 2021, Dr. Hudson Freeze and Dr. José Luis Millán, from Sanford Burnham Prebys (SBP) interviewed two rare disease patient families. Each family shared their story of how their child's life was saved by the research being done at SBP and specifically the caring and hopeful work of these scientists.

CDG CARE is honored to share the recording of this inspirational discussion, so that every CDG & NGLY1 family can hear how the research at SBP often leads to better diagnosis, treatments, and sometimes, even cures for children. To view this webinar, CLICK HERE.

To learn more about the work being done at SBP, or donate directly to these efforts to help battle childhood diseases, visit The Rocket Fund, by CLICKING HERE.
News from the FCDGC
Natural History Study
Enrollment is now open at all participating sites. Overall, the consortium has enrolled over 100 participants into the study. To see a list of participating sites, please go to: https://www.rarediseasesnetwork.org/fcdgc/sites 

Career Enhancement
A new research fellow has joined the consortium under the Career Enhancement Core. Paulina Sosicka, PhD, will be working alongside Hudson Freeze, PhD at Sanford Burnham Prebys Medical Discovery Institute in San Diego, CA. She will be working with Dr. Freeze for approximately one year on FCDGC related research. 

Acetazolamide Clinical Trial
FCDGC is starting a clinical trial supported by CDG CARE. Enrollment is now open for this study. Enrollment will be open to individuals with a diagnosis of PMM2-CDG, 4 years and older. The trial will be performed at Seattle Children’s Hospital (Dr. Irene Chang and Dr. Christina Lam), Children’s Hospital of Philadelphia (Dr. Andrew Edmondson), and Mayo Clinic (Dr. Eva Morava-Kozicz). More information can be found on www.clinicaltrials.gov.
New Publications from FCDGC Members
Two new papers have been published by FCDGC members. The first paper is about ALG3-CDG, titled “Expanding the phenotype, genotype, and biochemical knowledge of ALG3-CDG” (PMID: 33583022). The second paper is about transferrin in PMM2-CDG and is titled “Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study” (PMID: 33632285). 

Preparing for Epalrestat trial
Based on encouraging results in patient cells showing an increase in PMM2 enzyme activity in more than 10 PMM2-CDG patients, many more patients showing elevated concentrations of a biomarker in urine, and correlating with disease severity in PMM2 deficiency, FCDGC teamed up with Maggie’s Pearl, CDG CARE and Mayo Clinic to prepare for a clinical trial with Epalrestat. The first step is to submit an Investigational New Drug Application (IND) and study protocol to the Food and Drug Administration (FDA) for authorization to administer an investigational drug to humans. Dr. Morava and the team are working on the study protocol and already started to screen patients for potential benefits of Epalrestat treatment. The screening is currently performed through Mayo Clinic BGL and Dr. Morava’s research laboratory and performed by treating patient cells (fibroblasts) with Epalrestat, and/or screening patient’s urine samples for the PMM2 disease biomarker. Research testing needs informed consent and therefore we have been evaluating PMM2-CDG patients who are already enrolled to the U54 FCDGC natural history study through any of our clinical sites.
FCDGC Natural History Study:
Transferrin as a Biomarker for PMM2-CDG
The FCDGC Natural History is instrumental in developing treatments for CDG. A biomarker is a way to measure disease status. In clinical trials, biomarkers are used to evaluate responses to a drug intervention. Thus, it is important to know the natural history of how biomarkers change over time in CDG without treatment. Carbohydrate deficient transferrin (CDT) is a frequently used biomarker to diagnose CDG, although it can be normal in some CDG patients. FCDGC investigators evaluated current and past measurements of CDT in 37 PMM2-CDG subjects enrolled in the FCDGC Natural History study. They found that over time there is natural improvement in glycosylation of transferrin and that its improvement does not correlate with health outcomes of importance to patients and families, raising concerns about using carbohydrate deficient transferrin as a biomarker for longitudinal evaluation of therapy in PMM2-CDG. The study report is titled “Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study” and is available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7908710/

Ultimately, FCDGC investigators are dedicated to working with patients and their families to prioritize CDG treatment approaches with the strongest evidence of potential efficacy that are most likely to result in meaningful improvements for patients in the near term. We want to thank all of the families who are currently participating in this nationwide study. We anticipate that the coming years will provide us with many additional important insights that will improve the care of all CDG patients. The FCDGC Natural History study is accessible at 10 sites nationwide. If you are interested in joining, see the FCDGC website for contact details of the study site nearest you: https://www.rarediseasesnetwork.org/fcdgc/sites.
Advocating for Our Community
We all know how hard it can be to get the voices of rare and ultra-rare diseases heard, and we also know many voices are better than one. That said, we are happy to share that CDG CARE has joined the The Haystack Project. The Haystack Project is a non-profit that works to enable rare and ultra-rare patient advocacy organizations to highlight and address obstacles to patient access. Their core mission is to evolve health care payment and delivery systems to make innovative quality treatments accessible to the patients they were meant to reach. With over 140 CDG types in need of a treatment, CDG CARE’s membership in this organization is a huge step forward for us!

Most recently, CDG CARE Board member, Kara Berasi, gave public comments at a Medicaid and CHIP Payment and Access Commission (MACPAC) Meeting. At this meeting, we asked the Commission to reconsider their recommendations to increase rebates for manufacturers who use the FDA Accelerated Approval Pathway. This pathway is very important to rare diseases as it allows for novel treatments to be made available to patients without other options in a timelier fashion. However, MACPAC’s current recommendations have the unintended consequence of disproportionately harming ultra-rare patients like us. Thus, while it is important for us to work toward finding treatments for CDG, it is just as important to ensure that once they are found, patients can access them! We appreciate the efforts of the Haystack Project, and for their efforts to keep us informed about policy issues that affect our families, for working with us on the implications for our community, and helping us provide a voice through this recent platform. To learn more about The Haystack Project and the specific legislative work they do to represent the rare and ultra-rare disease community, you can access their website HERE. 
International Research Study:
CDG Journey Mapping
The CDG Journey Mapping survey will provide the real, holistic view of how CDG families progress through their CDG journey. This information is helpful in order for our medical professional and research teams to tailor solutions, therapies and treatments for the CDG Community.

To date, there has not been a study conducted around the journey to CDG of this type which collects data focused on better understanding people living with CDG and their family members.

What are CDG families concerns, priorities, needs, and their expectations when living with CDG? Which symptoms have a major impact in their quality of life? What are the current CDG care and management strategies? What does it mean to live with the disease?

If you are a person living with CDG or a CDG family member, join this Survey 1, by clicking here: https://worldcdg.org/research/cdg-journey-mapping

The second phase of this Survey, Survey 2, will be released soon and will be dedicated to learn about Prioritizing Symptoms Impacting Quality of Life for CDG. The collective results will be the pillar of several sessions held during the 5th World Conference on CDG being held May 13-16, 2021!

This study is led by CDG & Allies Professionals and Patient Associations International Research Network (CDG & Allies PPAIN), in collaboration with worldwide families, patient groups and professionals.
Celebrate Our Heroes!
May 16th is World Congenital Disorders of Glycosylation (CDG) Awareness Day!

Calling all Families, Caregivers, Communities and Professionals to support CDG!

In collaboration with the World CDG Organization and our global patient associations, we invite you to join the 6th annual World CDG Awareness Day Campaign!

World CDG Awareness Day is an annual event that provides international focus for patient groups and families living with CDG. It is an opportunity to raise awareness, influence change, promote timely disease diagnosis, and improve access to better standards of care and management. Since World CDG Awareness Day initially launched in 2016, more than 300 events have taken place around the world.

This year, we call upon our supporters to join our efforts to raise awareness and funds to advance CDG & NGLY1 research, therapies and treatment strategies that will improve the lives of children and young adults diagnosed with CDG! This year's campaign, "Celebrate Our Heroes", will run through May 16th. So, if you are organizing or running in a 5K run/walk, asking families to donate to your favorite cause for your birthday, or doing a tribute to a loved one... we have got you covered!

Give Lively is an easy-to-use fundraising platform for nonprofits. You can make a donation and share from our CDG Awareness Day fundraising homepage, OR click "I Want to Fundraise For This" and create a custom fundraiser for our cause, with your own family photos! To visit our page, get started, AND to see the fundraisers that have already been launched, click on the links below:

We encourage our social media followers to keep up to date on our progress by 'Liking' the CDG CARE Facebook Page and 'Share' our posts as we paint the USA and the entire World GREEN showing support for May 16th – World CDG Awareness Day!
The CDG Global Patient Registry:
CDG Connect
Where your participation will help advance treatments for CDGs!

CDG CARE is proud to partner with the Invitae Patient Insights Network (PIN) and Cerecor, Inc. to offer the first international CDG Patient Registry – CDG Connect! 

CDG Connect is a comprehensive database of individuals with all types of Congenital Disorders of Glycosylation (CDGs). It provides CDG patients and families with a secure and confidential platform to share critical information to understand the history and progression of CDG. Through your participation, and submission of key clinical information, you are helping to build a network that will make it easier for researchers to study CDG, for patients and families to learn about evolving therapies and treatment options, and for advocates to speak on behalf of the CDG community.

CDG Connect serves as the centralized global network for CDG patients, researchers and drug developers to amplify the voice of CDG patients and optimize the search for better treatments. Most recently CDG CARE presented the data from 129 participating families at the National Institute of Health's Rare Disease Day symposium on March 1, 2021! To view the poster presentation submitted by CDG CARE to promote CDG education and awareness, CLICK HERE!

When you join a Patient Insights Network (PIN), you are empowered to share your medical data and experience with a global disease community. CDG Connect is much more than a traditional registry. It is a global platform that collects, curates, coordinates and delivers patient data to form an engaged patient community and contacts patients with updated survey questionnaires, all while protecting patient privacy through a de-identified data system that is needed for clinical study planning and execution.

CLICK HERE enroll in CDG Connect TODAY and share your experiences, access data and insights and advance research for CDG. Together, we can build the CDG Connect Community!