Vol. X - October 2020 | Email Us | CDGCARE.com
In this Issue
  • CDG CARE Expands Services
  • Voices of the Community
  • FCDGC Research Updates & Pilot Grant Awards
  • New Test & Treatment Discovered for Ultra-Rare CDG
  • First PMM2-CDG Patient Diagnosed in Mexico
  • Funding Opportunities - Call for Research Projects
  • Global Day of Giving
CDG CARE Expands Services & Research to
Support Global NGLY1 Community
CDG CARE is excited to announce our union with the NGLY1 Foundation | NGLY1.org!

CDG CARE has closely and successfully collaborated with NGLY1.org for the past 6 years. And as a 501(c)(3) nonprofit public charity that represents all Congenital Disorders of Glycosylation--of which N-glycanase deficiency (NGLY1) is considered a part, CDG CARE is honored to be able to continue the work of the NGLY1 Foundation and expand services and research initiatives for the global NGLY1 community.

There are currently 150 different types of Congenital Disorders of Glycosylation (CDGs) with very few numbers of patients each. However, collectively the number of patients affected by CDGs is significant and growing. By folding NGLY1.org into the portfolio of CDGs stewarded by CDG CARE, we are leveraging economies of scale in order to do more in terms of research, awareness and support for the NGLY1 community as well as the greater CDG community. We believe that we are STRONGER TOGETHER!

Any future contributions for NGLY1 research and/or support should be made out to CDG CARE with a note in the memo to designate those funds for NGLY1. We are confident that through this union, we are taking another step toward treatments and cures for all!
Voices of the CDG Community
Community. “A group of people living in the same place or having a particular characteristic in common”.

Rare disease community. “A go-to resource for individuals and families living with rare disease that transcends any single condition”.

Through these continued uncertain times, our CDG families have been able to stay connected, stay informed, stay educated and remain HOPEFUL by accessing the multitude of resources that we strive to make available for our families, medical professionals and researchers around the globe.

It takes a village. Our CDG Community knows this to be true. And while we routinely acknowledge the strength, bravery and resilience of our children diagnosed with CDG, there remains another group that sometimes gets overlooked.

CDG siblings. The unsung heroes of our CDG Community. If you’ve attended a CDG conference or local CDG meet-up, you might notice that many of those who help out with the event are the siblings of those who have CDG. This doesn’t happen only at conferences, but at any and all gatherings and outings that our CDG families navigate in everyday life.

It is often noted by rare disease advocates, that the truth is, “when a member of any family has a rare disease, everyone in the family is affected by that condition, even if they don’t realize it”.

So, in this edition of Voices, we want to acknowledge and thank all of the CDG siblings around the globe. Thank you for your support. Thank you for your understanding that your parents have been especially worried during this unprecedented pandemic. And thank you for making every effort to bring normalcy and humor to what could otherwise be even more stressful times.

Today, and every day, we are thankful for each and every one of YOU! 
Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) Updates
By Eva Morava-Kozicz, MD, PhD

Natural History of CDG Study 
This research study aims to understand the natural history of congenital disorders of glycosylation (CDG). The study has enrolled over 50 patients with diagnoses shown in this pie chart.

Almost half of the patients enrolled have PMM2-CDG (in blue). Information about this study and sites that are participating can be found on our website at https://www.rarediseasesnetwork.org/fcdgc
Biomarker Discovery Study
The Biomarker Discovery team has started monthly research conferences to present and exchange knowledge about the novel diagnostic markers currently being studied amongst the sites. The team has also added collaborators at the University of Utah.
FCDGC Foreign Collaborator
Dr. Peter Witters from UZ Leuven has joined the FCDGC as a collaborator. He will contribute data and samples to our studies, strengthening our world-wide collaborations on CDG.
Career Enhancement
The first FCDGC physician trainee has begun a rotation at Mayo Clinic, working with Dr. Eva Morava-Kozicz on CDG. Welcome Dr. Christin Johnsen!
Educational Announcements
Dr. Eva Morava-Kozicz has recorded an educational lecture on PMM2-CDG therapies. The lectures are available for free on MEDSCAPE for 12 months: https://www.medscape.org/viewarticle/936236
Acetazolamide Clinical Trial
FCDGC is starting a clinical trial supported by CDG CARE. We plan to start enrolling individuals, 4 years or older with PMM2-CDG, later this year into this clinical trial. There will be a 6-month period where an individual may get acetazolamide or a placebo, followed by an open label extension where everyone (including those previously on placebo) can receive acetazolamide, if desired. The trial will be performed at Seattle Children’s Hospital (Dr. Irene Chang and Dr. Christina Lam), Mayo Clinic in Minnesota (Dr. Eva Morava-Kozicz), and Children’s Hospital of Philadelphia (Dr. Andrew Edmondson). 

Social Media Presence
FCDGC has a Twitter page. Please follow us! @FrontierCDG
 FCDGC Announces 2020 Pilot Grant
Award Recipients
The Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) has awarded 2020 FCDGC Pilot Grants to Kent Lai, PhD, and Lan Lin, PhD.
Dr. Lai is a professor in the Department of Pediatrics at the University of Utah School of Medicine. He specializes in therapeutic development and mouse models of inborn errors of metabolism. Dr. Lai’s project, “Novel Mouse Models of Human Phosphoglucomutase I Deficiency (PGM1-CDG),” aims to explore the underlying disease mechanisms and lay the foundation for the identification of more effective treatments for PGM1 Deficiency, a congenital disorder of glycosylation (CDG), leveraging a novel and relevant animal model of this debilitating rare disorder.
Dr. Lin is an assistant professor of pathology and laboratory medicine at the Children’s Hospital of Philadelphia and the University of Pennsylvania. She specializes in developing and using genomic approaches to study post-transcriptional RNA processing and modifications in health and disease. Dr. Lin’s project, “Discovery of the roles of glycoRNA species in Congenital Disorders of Glycosylation,” aims to explore the expression, biochemical property, and function of N-glycosylated RNA (glycoRNA) species in CDG.
The FCDGC pilot program supports investigator-initiated studies that address translational research in CDG. Drs. Lai and Lin will receive $40,000 support for their work.
Congratulations, Drs. Lai and Lin!
Medical Researchers Identify Treatment for
Some Variations of CAD Deficiency
CAD Deficiency is an ultra-rare metabolic disorder and is one of the 150 types of CDGs. Scientists at Sanford Burnham Prebys Medical Discovery Institute and the Centro de Biologia Molecular Severo Ochoa in Spain have created a test that determines which children with CAD deficiency are likely to benefit from the nutritional supplement, uridine. Uridine supplementation has dramatically improved the lives of children diagnosed with this type of CDG. "The effect of uridine for some children with CAD deficiency is nothing short of amazing. These kids go from bedridden to interacting with people and moving around," says Hudson Freeze, Ph.D., Director of the Human Genetics Program at Sanford Burnham Prebys and co-corresponding author of the study.

Nine-year-old Audrey was born with an alteration in a gene called CAD. You can see the dramatic improvement in the video, available HERE, which documents Audrey's condition at the start of treatment, and the second clip just six months later.
Thank you to Hudson Freeze and Santiago Ramón-Maiques at the Instituto de Biomedicina de Valencia in Spain who developed this life-changing test, and physicians Kristin Lindstrom and Matthew Troester of Phoenix Children’s Hospital for your incredible care of Audrey. To read more about the research and test for CAD Deficiency, CLICK HERE.
First PMM2-CDG Diagnosis in Mexico 
By Ivan Martínez Duncker MD ScD
Glycobiology and Molecular Diagnosis Laboratory
Cell Dynamics Research Center, Morelos State Autonomous University, Mexico
Since 1980 when Dr. Jaak Jaeken reported the first clinical description of a child affected by a Congenital Disorder of Glycosylation (CDG), which was subsequently found to be PMM2-CDG (formerly known as CDG-Ia; OMIM:212065), diagnosis of CDGs has spread around the world. Nonetheless, it’s important to acknowledge that CDG diagnosis is still very limited and probably not being tested for at all in many countries. This is particularly true in low-income countries, from where scarce reports are issued regarding CDGs. Lack of awareness and diagnostic infrastructure are the primary factors that contribute to this dilemma. This situation, shared by many rare diseases, has a serious impact on health by avoiding the diagnosis of hundreds of children with CDG and denying them the specialized clinical follow-up they deserve.

In Latin America and the Caribbean, a region with 650 million people, only a few countries have reported CDG cases. These are mainly Argentina, Brazil and Mexico. In Mexico, we started in 2010 to offer free CDG screening in our laboratory, but it wasn't until 2014 that we reported the first cases of CDG in collaboration with Dr. Hudson Freeze (SBP Medical Discovery Institute, USA) and Dr. Kimiyo Raymond (Mayo Clinic, USA). These cases involved two children affected with Cutis Laxa Syndrome and who were diagnosed with ATP6V0A2-CDG (OMIM:219200).

However, in September 2020, in collaboration with Dr. Carmen Alaez, Head of the Genomic Diagnosis Laboratory of the National Institute of Genomic Medicine (Mexico) we confirmed the very first case, in Mexico, of a child diagnosed with PMM2-CDG, the most common type of CDG. This diagnosis was accomplished through exome sequencing, which is an especially useful technology that allows us to quickly screen the genome for mutations and find the answers we are looking for. Unfortunately, this technology is still not widely available in Latin America, limiting access for most patients. 

FCDGC and CDG CARE Announce
Call for Research Proposals
The Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) and CDG CARE requests full proposals for funding during the 2021-2022 grant year. These awards are intended to support projects that will provide preliminary data for new, extramural grant submissions. Funds will be available for one to two awards with up to $50,000 in direct costs for each award. CDG CARE will also be reviewing application submissions to identify an additional research project that may receive an award of up to $50,000. Applications are due no later than December 9, 2020 and the duration of the awards will be 12 months.

The FCDGC and CDG CARE aim to provide funds for projects that will exclusively focus on CDG related science and it is meant to produce preliminary data supporting areas of research that are either new in the CDG field or new to an established investigative team. We will especially focus on projects that have the potential for high-impact on CDG patient care. The consortium also aims to form new multidisciplinary collaborations that will enhance the integration of the techniques offered at the participating institutions that will benefit multiple investigators. Potential applicants are encouraged to explore basic, translational, and clinical research. The strengths of our consortium are extensive expertise in clinical management, expert laboratory science, excellent clinical laboratories, clinical trials with novel therapeutics, rich source of natural history, an ever growing biobank, and access to patient advocacy groups, all focused on improving the diagnosis and clinical management of patients with CDGs.

Global Day of Giving - December 1, 2020

Join CDG CARE on Tuesday, December 1st as we participate in the annual Global Generosity Movement and take part in this year's Giving Tuesday initiative. This has been a challenging year for all of us and and along with small businesses, small non-profits, like ourselves, have also been greatly affected.

As we step into the giving season, we are asking for your support to help make this worldwide movement a reason to celebrate in 2020. This Giving Tuesday, your donation will have double the impact thanks to the help of a generous donor who will match every donation up to a fund pool of $20,000! So with every $10 donation, it will result in $20. Every $50 donation will be $100. And every $500 donation will bring $1,000, and so on!

Please join us in reaching our campaign goal of $20,000, which could be doubled to $40,000 with the sum of our supporters' combined contributions and this year's generous match! Help us raise funds for our 2021 research program and bring hope to our CDG community so that we can continue to improve the lives of everyone affected by CDG.

There are three ways go GIVE this year: 1) Follow along on Facebook and look out for our “Give Lively” fundraising page, 2) Visit our secure donation by CLICKING HERE, or 3) Send a check made payable to CDG CARE and mail to: CDG CARE, P.O. Box 38832, Colorado Springs, CO, 80937.