Vol. IX - April 2020 | Email Us | CDGCARE.com
In this Issue
  • CDG Awareness & Education
  • Voices of the Community
  • Research Updates
  • CDG Canada & SRD5A3-CDG Research
  • World Conference Update
  • Join the CDG CARE Team
CDG Awareness and Education All Year Long!
CDG CARE and all of the members of the CDG World Organization cannot thank the CDG Community enough for joining together to make May 16, 2020 World CDG Day the most impactful online CDG Awareness campaign to date! This year’s campaign reached nearly 19,000 people. With you help, we have now also reached almost 10,000 signatures on our World CDG Awareness Day petition to the World Health Organization (available HERE ) and received photos to create 1,283 CDG frames to promote May 16 th CDG Awareness Day through social media worldwide and create the #CDGMosaic which will be released later this year!

AND, with the combined efforts of our global CDG Community and help of our family and friends, we have already raised over $16,000!! We are grateful for the amount of creativity that was put into this year’s celebration. We also appreciate all of the Facebook fundraisers that our community supporters created and promoted. CDG CARE knows that there were many events that had to be cancelled or delayed due to the COVID-19 pandemic and as such we have extended our fundraising campaign through July 2020. Regardless of the unknowns that our world still faces, we will not give up spreading our mission all year long! 
CDG CARE is also excited to remind our supporters, that in collaboration with the  Sanford Burnham Prebys Medical Discovery Institute , we are honored to launch the Scientific Symposium Program sessions from the recent 2020 Rare Disease Day Symposium in San Diego!

Through our partnership with MedEd On the Go, these short-form CDG educational video episodes are freely available and have been disseminated through the American Academy of Pediatrics to reach professionals nationwide in the specialties of: Genetics & Metabolism, Endocrinology & Diabetes, Gastroenterology & Hepatology, Neurology and General Pediatricians.

To access the program, a brief registration process is required, and takes less than 1 minute to complete. For our CDG Community registrants, you may select "Parent/Caregiver" and/or "Other" for any registration categories that may not be relevant to your profession.

CDG Research Advances:  https://bit.ly/2xXjobX
CDG Updates and Perspectives with Dr. Hudson Freeze:  https://bit.ly/2zv7mqI
CDG Family Conference:  https://bit.ly/2zv7p5S

Thank you to ALL of our families, friends, medical professionals and community supporters for helping us create this educational program and for making May 16, 2020 World CDG Day a day to celebrate the strength, determination and unification of our community. This is a collaborative and global effort with an international impact thanks to each and every one of you!! Together we are strong and we will continue to #StandUnited4CDG in our cause of bring hope to all families affected by CDG!
Voices of the CDG Community
By Bobbie List

In June, Dee (PMM2, 19 yo) used her gait trainer to walk across the stage at graduation with highest honors. She was a member of the National Technical Honor Society for Childcare Development, as well as a varsity swimmer and cheerleader. She has also been a Special Olympic athlete for 11 years. This Fall, Dee will attend the St Anthony’s Program at Duquesne University where she will receive both academic and vocational training. Dee would love to work in a daycare someday. When we received her diagnosis at 11 months, the doctor told us to provide Dee with every opportunity possible and she will show you us what she CAN do. We have been blessed by the tremendous support of our CDG Community over the years, but those words have remained our motto since 2001.
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). This will be done by defining the clinical features seen in these patients through exams and review of medical records, develop and validate patient reported outcome measures through surveys from the families, and publish results so that families and non-expert clinicians have access to what the study learns. The study takes place over the course of 5 years with annual follow up at a study site. All individuals with a confirmed CDG diagnosis are eligible to participate. The consortium aims to enroll 100 patients with CDG. This study will also offer an optional sample collection. These collected samples will be used for biomarker discovery and validation through the Biomarker Discovery study.
Mayo Clinic in Minnesota has already started enrollment for this study and has recruited 41 patients to date. Other sites have been added into the study to recruit patients as well and will be able to begin enrollment soon. Sites that will be opening up in the near future are Seattle Children’s Hospital (Dr. Christina Lam), University of Minnesota (Dr. Kyriakie Sarafoglou), Tulane Medical School/Children’s Hospital of New Orleans (Dr. Hans Anderson), Children’s Hospital of Philadelphia (Dr. Andy Edmondson), Baylor College of Medicine/Texas Children’s Hospital (Dr. Fernando Scaglia), and Children’s Hospital of Pittsburgh (Dr. Evgenia Sklirou) . Two additional sites will be added into the study in the near future. These sites are Children’s Hospital of Colorado (Dr. Austin Larson) and Boston Children’s Hospital (Dr. Gerard Berry).

Biomarker Discovery Study
The Biomarker Discovery study is a collaboration between Mayo Clinic in Minnesota (Dr. Eva Morava-Kozicz, Dr. Tamas Kozicz, and Dr. Kimiyo Raymond), Sanford Burnham Prebys Medical Discovery Institute (Dr. Hudson Freeze and Bobby Ng), Children’s Hospital of Philadelphia (Dr. Miao He and Dr. Andy Edmondson), University of Alabama (Dr. Matthew Might), and University of Utah (Dr. Clement Chow). The group has already worked to validate diagnostic biomarkers for PMM2-CDG and continues to work diligently on discovery and validation on a wide range of other potential CDG biomarkers. These biomarkers will help clinicians perform therapeutic follow up on CDG patients.

Acetazolamide Clinical Trial
The announcement surrounding the Acetazolamide Clinical Trial for balance issues (ataxia) in PMM2-CDG patients is summarized below.

Continuing Education
The consortium is offering a fellowship opportunity to begin at the Mayo Clinic in Minnesota. This fellowship is on track to begin in August 2020 with the goal of increasing awareness, provide training, and altogether further education for our future clinicians and scientists in handling care and treatment of CDGs.

Guidelines on MPI-CDG and PGM1-CDG
The new international diagnosis and management guidelines for MPI-CDG and PGM1-CDG are summarized below.

Social Media Presence
FCDGC has a new Twitter page. Please follow us! @FrontierCDG
CDG CARE Funds $50,000 to Support Acetazolamide Clinical Trial for Balance Issues (Ataxia) in PMM2-CDG 
By Christina Lam, MD
As a result of the promising findings from a Spanish study that suggested acetazolamide may help some individuals with PMM2-CDG with their balance (ataxia), we are starting a clinical trial here in the United States supported by CDG CARE, the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC), and the Seattle Children’s Research Institute. 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). The trial lasts 2 years, and you will need to travel to one of the study sites every 6 months. If you would like more information or to register interest in participating in this trial, please contact the Site Coordinators listed below:

Seattle Children’s Hospital Site Contact:
Hayden Vreugdenhil
Phone: 206-884-1264

Mayo Clinic Site Contact:
Kaitlin Schwartz
Phone: 507-293-9114

Children’s Hospital of Philadelphia Site Contact:
Desiree Yannone
Phone: 215-590-3376
FCDGC News Regarding International CDG Diagnosis and Management Guidelines
By Andrew Edmondson, MD, PhD

FCDGC Professionals have been busy improving clinical care for CDG patients. We are excited to report FCDGC success toward this goal specifically for MPI-CDG and PGM1-CDG, two CDG types recognized as treatable with sugar supplements. FCDGC Investigators collaborated with worldwide CDG experts to share their clinical experience with each other and review all the available literature about MPI-CDG and PGM1-CDG. This led to the publication of international consensus guidelines for the diagnosis and management of these two CDG types. The guidelines provide specific recommendations for diagnostics, routine surveillance, and treatment of system/organ involvement in MPI-CDG and PGM1-CDG. Available in the Journal of Inherited Metabolic Disease, these publications (MPI-CDG: https://doi.org/10.1002/jimd.12241 and PGM1-CDG: https://doi.org/10.1002/jimd.12286 ) can be shared with treating physicians and specialists and will help standardize care for all MPI-CDG and PGM1-CDG patients. These publications follow the successful 2019 publication of similar international guidelines for PMM2-CDG ( https://doi.org/10.1002/jimd.12024 ). 
CDG Canada and SRD5A3-CDG
Research Projects Underway
By Vijay Sappani

CDG Canada is excited to announce the recent launch of the organization's website at www.canadacdg.com . In addition to now having a place to find the latest information on research, resources and news in Canada, we encourage our CDG families throughout Canada to Like and Follow our new CDG Canada Facebook Page as well!

On the research front, the Sappani Foundation is supporting new CDG research, beginning with SRD5A3-CDG (aka CDG1q). SRD5A3-CDG is caused by a defect in the polyprenol reductase enzyme leading to a deficiency in dolichol, an important molecular scaffold for N-glycosylation.

The Sappani Foundation is actively funding drug repurposing and gene therapy programs. On the drug repurposing side, they are working with the Canadian biotech company Modelis to generate genetic models for SRD5A3-CDG in worms and zebrafish.  Srd5a3-  deficient worms move very slowly compared to wild-type worms. These worms are currently being used to evaluate whether a library of drugs can improve their movement, which may translate to patient benefit. Modelis is also generating  Srd5a3-  deficient zebrafish.

On the gene therapy side, they are working with Dr. Steven Gray's lab in Dallas, Texas to develop and test AAV gene therapy for SRD5A3-CDG. On that front, the gene therapy has been designed and will soon be tested over the next several months in Srd5a3- knockout mice (originally generated by Dr. Vincent Cantagrel). A similar Srd5a3 -deficient mouse model will also soon be available to the broader research community through Jackson Laboratories.

Beyond the work in drug repurposing and gene therapy, internal research efforts led by Sappani Foundation's Research Program Director, Omid Karkouti, are being used to generate patient-derived cell-based models for SRD5A3-CDG, and testing (assays) to evaluate their effects in cells, animal models, and in patient samples. For more information, you can email vijay@sappani.com
5th World Conference on CDG
The 5th World Conference on CDG for families and professionals will come back next year! This next edition theme is “ #StandUnited4CDG  Patient Centric approach that drives CDG therapeutic development: Impossible, Is Possible!”

WHEN: May 14-16, 2021
WHERE: The Science and Technology Faculty of NOVA University of Lisbon (FCT-UNL), Caparica, Portugal

The results of the Qualitative study led during the 4 th WCCDG named “What’s the matter with you?” to “What matters to you? A CDG families and professionals think tanks approach” will be presented. Additionally, new sessions with high impact on current therapies will be addressed including:

  • Achieving the triple A’s for CDG: Accessible, Available and Affordable treatment for CDG
  • The CDG digital revolution is now: Challenges and Opportunities
  • Holistic care for people living with CDG
  • CDG Real World Evidence supporting research, advocacy, and pharmacovigilance: Hopes, challenges and solutions
  • Mapping the CDG patient and treatment journey: a families and professionals united exercise
  • CDG-Quality of Life questionnaire
  • Engaging patients and professionals in prioritizing symptoms impacting quality of life for CDG
  • Rare CDG types: how to meet family’s needs?
  • What is Artificial Intelligence bringing for CDG?
  • What is the CDG community doing to meet the Rare 2030 objectives?
  • Regulatory and HTA assessment and the impact for CDG patients

To stay informed of current World Conference announcements and the launch of Conference Registration in January 2021 CLICK HERE
CDG CARE is currently seeking applicants to serve on our Board of Directors! The CDG CARE Board consists of a diverse representation of qualified parent and community representatives who have the time, passion, talents, and resources to help CDG CARE fulfill its mission and achieve its strategic purpose.

CDG CARE also extends an invitation to interested medical professionals who are looking to contribute their time to work with CDG colleagues through membership on the CDG CARE Medical Advisory Board.

We will be accepting Board member applications through October 2, 2020. So, if you are interested in helping us promote and advance our efforts as a CDG CARE Board member, or Medical Advisory Board member, please email us at info@cdgcare.com for more information today!