Vol. XVI - April 2022 | Email Us | CDGCARE.org
In this Issue
  • CDG CARE Education & Research
  • Emmett's Legacy Fund Awards
  • News from the FCDGC
  • Partner Updates - CURE SRD5A3 & Glycomine, Inc.
  • Advocating for Our Community
  • World CDG Organization Resources & Opportunities
  • May 16th is World CDG Awareness Day!
CDG Education, Resources and
Research All Year Long!
CDG/NGLY1 Conference & Education
Our community asked and we listened! Education centering around Neurology, Bone Health, Nutrition, Epilepsy, Therapies, Treatments, Clinical Trials, and more took place at the 2022 CDG/NGLY1 Family Conference over Rare Disease Day weekend in San Diego, California! We are very thankful for our partnership with Sanford Burnham Prebys in making this year's event a huge success as we advanced CDG & NGLY1 education, awareness and research to the next level!

We thank our speakers, volunteers, medical professionals, families, and sponsors for making this event possible and we are delighted to share that we have launched our CDG & NGLY1 2022 Education and Research Miniseries!

Through this program, CDG CARE is releasing weekly video Episodes from the 4th Biennial CDG & NGLY1 Family Conference session topics. To view the first five episodes, click on the links below. And we encourage our community supporters to subscribe to the CDG CARE YouTube Channel to receive immediate notifications of new video uploads as they are released!

Lastly, we are delighted to share with everyone this memorable “Best Moments” video created from photos that were taken at the recent gathering in San Diego!
CDG CARE Awards Research Grant
CDG CARE is honored to announce that donor support has enabled us to fund a $50,000 research grant to the University of Georgia, Complex Carbohydrate Research Center! Through this innovative research project, Dr. Ryan Weiss and his team will establish novel drug screening assays to identify drug candidates for treatment of the CDG, Multiple Hereditary Exostoses (MHE), an inherited skeletal disorder that currently has no approved therapies. 

Fiscal Sponsorship Opportunities
CDG CARE announces the expansion of our research programs to promote partnerships with families, and groups of families, who are interested in advancing patient-driven research for all CDGs! To learn more about the benefits that a partnership with CDG CARE can provide, we encourage families to review our new Fiscal Sponsorship Program by Clicking HERE.

CDG & NGLY1 Clinical Trials Education
With so many research advancements being made in the CDG & NGLY1 Community over the past two years, it is common for families to have many questions surrounding opportunities, participation, resources and more.
In collaboration with the FCDGC team, we are honored to reveal the new informational video explaining clinical trial design and hope to answer many of our community's frequently asked questions when it comes to clinical trial participation. Thanks to a generous grant from Travere Therapeutics, the video is currently available in English, Spanish and Portuguese.

Family Support Network Update
The CDG CARE Family Support Network has been created to help families connect and stand united to advance resources, research, and advocacy for all CDGs and NGLY1-Deficiency. With the exponential growth of the CDG global community over the past few years, our patient community must unite together to provide ONE VOICE to our CDG community partners including medical professionals, researchers, regulatory agencies, industry and so many more! Our GLOBAL CDG MAP has already been viewed over 9,500 times! We thank the 300 CDG families who have already registered, and we encourage families not yet signed up to Register Today by Clicking HERE.
Calling ALL Families to Participate in the CDG/NGLY1 Growth Chart Project!
As a parent or caregiver of a child diagnosed with CDG or NGLY1-deficiency, you may have experienced that your child is growing differently than an unaffected developing child.

You or your child’s providers may have noted the difficulty of interpreting your child’s growth when using the existing reference growth charts which are different from the specific growth patterns of children with CDG or NGLY1.

In collaboration with the Frontiers in CDG Consortium (FCDGC) Research Team, we have joined forces to create a CDG/NGLY1 specific growth chart that can be used as a reference for families and clinicians to monitor growth. These charts will also be used to track response to therapy, as normative data for growing children with CDG or NGLY1 can help guide treatment decisions and evaluate the effectiveness of new treatments in clinical trials.

We will be collecting data through June 2022, so we ask ALL families around the globe, with a confirmed diagnosis of CDG or NGLY1-Deficiency, to learn more about this important opportunity by CLICKING HERE and contact us directly at info@cdgcare.org with any questions related to participating in this research survey.
Emmett's Legacy Fund helps families around the world obtain much needed medical equipment
CDG CARE and the Nguyen family are delighted to share that our second round of funding through Emmett's Legacy Fund has provided over $20,000 of much needed medical equipment and support to 11 families located throughout the USA, Canada, Mexico and Brazil!
Life with CDG is tough. We understand the many challenges that arise on a daily basis, and our aim is to alleviate some of these hardships. We will be sharing additional details on the specific items that have been supported in our new Emmett's Legacy Fund social media series which will launch on the CDG CARE Facebook Page very soon!

The next round of Emmett's Legacy Fund applications will be available in early 2023. 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
News from the FCDGC
**Follow FCDGC on Twitter @FrontierCDG**

Acetazolamide Clinical Trial
FCDGC/CDG CARE’s Acetazolamide Clinical Trial is well underway with enrollment. Currently there are 19 patients enrolled to the study, out of 26 available slots. Patients are diagnosed with PMM2-CDG, 4 years of age or older, and have clinical symptoms that involve ataxia. Patients are randomly assigned to placebo or treatment arms for 6 months, then are given the opportunity to extend their treatment on acetazolamide treatment for an additional 18 months. If you are interested, please contact one of the clinical centers performing this trial. Participating clinical sites include Seattle Children’s Hospital, Children’s Hospital of Philadelphia, and Mayo Clinic. Additional study information and contact information can be found on clinicaltrials.gov under the study number, NCT04679389. https://clinicaltrials.gov/ct2/show/NCT04679389 

Epalrestat Clinical Trial
The Epalrestat placebo-controlled clinical trial for patients with PMM2-CDG has been FDA-approved! Maggie’s Pearl will sponsor the trial at Mayo Clinic. Patients ages 2-17 with PMM2-CDG may be eligible to enroll. The study plans to enroll up to 40 participants throughout the summer of 2022. Preparations are underway and more information will be coming soon about how to get involved. 

Natural History Research Study
The natural history research study is still underway. Over 220 patients have been enrolled into this study and enrollment has opened at multiple sites across the country. Data reflects current enrollment report (some data is not complete). Participation involves annual visits with a designated healthcare provider for disease follow-up, questionnaires, and optional sample collections. If you would be interested in learning more, please contact one of the clinical sites, found here: https://www.rarediseasesnetwork.org/fcdgc/sites 

*NEW* - The study has added a new arm to the data collection. We are now accepting enrollment of CDG Angels into our Memorial Enrollment arm, at parent’s discretion. This data will prove beneficial in the study. If you are interested in donating medical records about your CDG Angel, please contact Kaitlin Schwartz at schwartz.kaitlin@mayo.edu

New Collaborations
University Hospital of Catania – Catania, Italy – Dr. Rita Barone – Welcome to the group!
The Emory Clinic – Atlanta, GA, USA – Dr. Hong Li – Welcome to the group!

Other News
New patient education videos were recently added to our website about PMM2 and PIGA CDGs: https://www.rarediseasesnetwork.org/fcdgc/flyers
Cure SRD5A3 has a number of exciting research projects in the works this spring! 

We are nearing the end of our first gene therapy study in a mouse model of SRD5A3-CDG and are testing candidate repurposed drugs in a worm model and patient fibroblast cells. To support therapy development for SRD5A3-CDG, we will soon be launching a study to identify therapeutic biomarkers. We are also investigating whether SRD5A3-CDG patients have elevated levels of sorbitol – a therapeutic biomarker for the repurposed drug Epalrestat which will soon be investigated in a clinical trial for PMM2-CDG patients. Cure SRD5A3 is generating a new mouse model to study how the retina and vision is affected in SRD5A3-CDG and support the development of therapies to treat these symptoms. Lastly, we are collaborating with FDNA to use artificial intelligence to help diagnose SRD5A3-CDG from a patient’s photo! 

Cure SRD5A3 is also recruiting participants for several upcoming studies! If you or someone you know has been diagnosed with SRD5A3-CDG and are interested in connecting with our community, please contact us via our website or email research@sappani.com

If you are researcher with expertise in gene-editing therapies or nonsense readthrough/ suppressor therapies, we would love to hear from you! Email us at research@sappani.com
Information on a NEW Research Study in PMM2-CDG patients!

The purpose of this research study is to understand what effects Glycomine’s new investigational drug, GLM101, has on people with PMM2-CDG. Patients that are aged 18-65 and who have low levels of ATIII are eligible to participate in the United States. GLM101 is a replacement therapy given directly into your vein using a needle or tube through an intravenous (IV) infusion, so that it can better enter the body’s cells.

Patients will be treated weekly for about 3 months with GLM101 IV infusions. After that, there is the option of continuing to receive weekly IV infusions for up to 3 years, which may be done at home by a visiting nurse if your doctor allows.

Glycomine may be able to help with arranging a place to stay and transportation to the study center for patients and their families traveling from a distance. Glycomine is also willing to explore opening sites close to where the patients live.

There are many reasons why people choose to participate in clinical studies. Taking part in the study is an opportunity to contribute to moving science forward and discovering medicines for PMM2-CDG. If you are interested and would like more information on the study starting later this year or site locations, please contact Glycomine, Inc at info@glycomine.com.
New CDG Type Makes the News Over
Rare Disease Day Weekend in Pennsylvania
Dr. Andrew Edmondson and colleagues at Children's Hospital of Philadelphia find answers for a family through the discovery of a new type of CDG.

For one family, over the course of 12 years
the questions grew, the list of specialists expanded, the search for answers continued, and the step-by-step process of addressing the unique clinical challenges of each of their young children was the only solution this family had. However, recently their diagnostic journey took a significant turn. Through the assistance of CDG specialist, Dr. Andrew Edmondson, the entire family was presented with the opportunity to undergo specialized biochemical testing. Within weeks, not only did the family finally have a diagnosis, but they also learned that their children were the first in the world to be diagnosed with this new type of Congenital Disorders of Glycosylation, EDEM3-CDG. To view the inspirational news highlight and read more about this family's incredible diagnostic odyssey, CLICK HERE.
Advocating for Our Community
As an active member of the Haystack Project, CDG CARE partners with ultra-rare nonprofit associations to address systemic obstacles to patient access.

Through these advocacy efforts, there are currently several pieces of legislation, specifically focused on rare diseases, where we could benefit from the help of our community members throughout the USA!

The advocacy opportunity that we want to highlight in this issue is called the HEART Act, and it was recently introduced in the Senate as a bill!! This bill will require the FDA to publish an annual report summarizing its actions related to reviewing drugs for rare diseases. Further, it will require the use of outside experts, including patient advocates and experts in small population trial design when reviewing these products. This is very important to our community, as we move closer to developing treatments, it will be important to have a direct line of communication with the FDA and make sure they understand the need, even if they do not have experience in the rare disease space.

There are two ways to support this effort:
1.   CALL your Senators and Representatives today! It just takes three easy steps!
2.   EMAIL your Senators and Representatives:
  • Go to https://haystackproject.org/take-action click on the HEART Act
  • Fill in the boxes on the right-hand side of the page (you can include a short entry about your experience with rare disease in the section labeled “message body” in you would like)
  • Hit “Send Message” and all of your representatives and senators will be e-mailed!

Also, please encourage family, friends, teachers, co-workers, really ANY ONE to follow these steps. This should not take more than 10 minutes of time, and the more support we can gather for this bill, the better the chances are that it becomes reality!
World CDG Organization:
Research, Resource & Education Updates
The future belongs to those who help others! 
You can help us by participating in the international study “Prioritizing Symptoms Impacting Quality of Life for CDG” aimed at people living with CDG, families and caregivers.
It is available in Portuguese, English, French, German, Spanish, Italian, and Dutch.
Thank you in advance for your cooperation. All answers are important! The questionnaire is Anonymous. Join now at: https://bit.ly/3FklG1N
There are over 170 CDG types and SLC35A2-CDG is one of the 7 types caused by impaired sugar transporters.
The majority of the described people have severe disability, lack of motor and intellectual milestones as well as speech.
More information about this and other types of CDG here: https://worldcdg.org/resources

Health literacy is important in health decisions!

It gives you information without technical terms allowing you to make informed choices related to your health.

You can know more about health literacy here: https://worldcdg.org/advocacy/empowerment-cdg-community

Do you want to know more about the history of CDG? Then this article is for you!

It tells you the discoveries and the panorama of CDG from 1980 until 2020.

If you are a CDG family member or a clinician following up with CDG families, you can learn more by reading the article “Panorama on congenital disorders of glycosylation (CDG): from 1980 to 2020”.

The abstract is available here: https://pubmed.ncbi.nlm.nih.gov/32821050/

Ask for the full article* at: https://worldcdg.org/contact 
Let's Come Together!
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 7th 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 325 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, "Let's Come Together!", 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!