Vol. XIV - October 2021 | Email Us | CDGCARE.org
In this Issue
  • CDG CARE Education & Resources
  • Current CDG Research Opportunities
  • News from the FCDGC
  • Liver Concerns in CDGs
  • Global Day of Giving
  • World CDG Organization Resources
CDG Education and
Resources All Year Long!
Recent Webinars for Families, Medical Professionals & Industry Partners:
The Life of a Special Needs Sibling
CDG CARE is excited to offer the newest edition of our 2021 Community Resource Program entitled: The Life of a Special Needs Sibling. We thank our webinar Speaker & Moderator, Courtney List, for sharing her personal experience as a special needs sibling and her invaluable insights into what she has learned and advice for others along this journey. You can view the webinar presentation on the CDG CARE YouTube Channel by CLICKING HERE. The pdf version of the slides with links to each sibling resource are also available for download on our CDG CARE website under the "Resources" tab or by CLICKING HERE
Working with the FDA in the Conduct of Clinical Trials
Recently, the RDCRN Coalition of Patient Advocacy Groups (CPAG) hosted a webinar entitled, “Working with the FDA in the Conduct of Clinical Trials”. Over 70 rare disease patient groups had the opportunity to hear and learn from Dr. Kathleen Donohue, Director of the Division of Rare Diseases and Medical Genetics at the FDA. This informative session focused on how patient advocacy groups, medical professionals and industry can engage meaningfully with the FDA along the path to a clinical trial, including the steps critical for success and pitfalls to avoid throughout the process. To access this 60-minute webinar, CLICK HERE. For a full listing of the RDCRN CPAG 2021 Clinical Trials Webinar Series, CLICK HERE
Introduction to Biomarkers
What are Biomarkers and why are they important to CDG research? The FCDGC has created an informational video surrounding the importance of biomarkers in advancing CDG & NGLY1 research. To view and share the video, CLICK HERE. Families interested in submitting samples should contact their FCDGC specialist or local physician at their next visit.
Overview of CDGs: Updated
The FCDGC is excited to share that the informational video which provides an overview of CDGs and introduction to the FCDGC has been updated! To view and share the video, CLICK HERE. 
FCDGC and CDG CARE 2022/23 Call for Research Applications:
The Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) and CDG CARE will soon be requesting full proposals for funding during the 2022-2023 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. 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. Stay tuned for the official announcement, guidelines, deadline, and link to the application coming soon at www.cdgcare.org.
2022 CDG/NGLY1 Scientific & Family Conference:
Time is running out! Are you interested in attending the upcoming 2022 CDG/NGLY1 Scientific & Family Conference? Would a little more financial support help you or your family make this opportunity a reality? The CDG CARE Family Travel Grant Program is now offering up to $1,000 in scholarship support for families looking to attend the upcoming CDG/NGLY1 Conference in San Diego, California! A full listing of event speakers, activities, venue and TO REGISTER TODAY, CLICK HERE.
Applications for this grant opportunity will be accepted through November 12, 2021. Grant program guidelines and applications are now available on the CDG CARE website, under the "Resources" tab, or directly by CLICKING HERE.
Current Research Opportunities for
Patients and Families
As an active member of the CDG patient community, you are already supporting our cause, but what specifically are the benefits of participating in a clinical trial? Participating in a clinical trial can be a very satisfying and worthwhile experience. People choose to participate for a number of reasons, including:
1) Taking an active role in managing their health and rare disease,
2) Gaining access to new treatments under the supervision of trusted expert professionals,
3) Helping advance our medical community’s knowledge and treatment options for CDGs and NGLY1,
4) Receiving a treatment that may significantly benefit you or your child
Families and Researchers can always access the full listing of CDG & NGLY1 clinical trials available by CLICKING HERE. On this site you can read more about the details, eligibility, enrollment sites, contact information and more opportunities as they relate to CDGs & NGLY1.
In this edition of our CDG CARE E-Newsletter, we are delighted to highlight the following active opportunities for our community:
*NEW Clinical Trial for PMM2-CDG IS NOW ENROLLING! The FCDGC Team is seeking 12 more participants to enroll in the Acetazolamide Clinical Trial! To read more about the study and for contact information on how YOU can make a difference in advancing CDG research, CLICK HERE.
*NEW Research Study for PMM2-CDG adult patients, ages 18 – 65 years old! The purpose of this study in PMM2-CDG patients sponsored by Glycomine, Inc (https://glycomine.com/), is to help researchers understand what effects a new Investigational Drug has on people with PMM2-CDG. The information learned in this study will help doctors and benefit patients with PMM2-CDG in the future. For more information and to participate in a Q&A Zoom meeting with the study sponsor, send an email to info@cdgcare.org.
CDG CARE is also here to help! If you have any additional questions or are in need of travel support to a CDG/NGLY1 clinical consultation or research opportunity, please email our team at info@cdgcare.org TODAY!
News from the FCDGC
**Please follow FCDGC on Twitter: @FrontierCDG**

Acetazolamide Clinical Trial

FCDGC/CDG CARE’s Acetazolamide Clinical Trial is well underway with enrollment. Currently there are 15 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 

Natural History Research Study

The natural history research study is still underway. About 177 patients have been enrolled into this study and enrollment has opened at multiple sites across the country. 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 
Other News

FCDGC would like to welcome Dr. Jehan Mousa and Diederik De Graef to the Mayo Clinic team. 
Dr. Jehan Mousa joined the FCDGC research team in September 2021. She is a rheumatology resident from Damascus University Hospitals, Syria. Her main interest is clinical research in CDG and education in rare disease. She is an Educational Research Fellow working with Dr. Eva Morava-Kozicz at Mayo Clinic. She is excited to explore all the clinical aspects of CDG from the point of diagnosis to the follow up plan. As part of the Mayo Clinic CDG research team she will support and educate our patients on genetic and metabolic aspects of their disease in CDG.
Diederik De Graef joined the FCDGC research team in September 2021. He is a medical student from the University of Leuven in Belgium. His main interest is in genetic and clinical research in CDG. He is a Research Trainee working with Dr. Eva Morava-Kozicz at Mayo Clinic till June 2022. He hopes to contribute to the Mayo Clinic CDG research team and help our patients with CDG while learning about the disease.
In addition to our Patient Advocacy Group partners at CDG CARE and CDG & Allies – PPAIN, FCDGC is now also partnering with the Amour Fund and CDG Canada. 

FCDGC published a flyer on the website for COVID-19 vaccine recommendations. This was written in collaboration with our partners at CDG CARE, CDG Canada, CDG & Allies - PPAIN, and the Amour Fund. Find the flyer here.

New Publications

FCDGC investigators participated in a publication that identified an EDEM3 gene mutation as a type of Congenital Disorder of Glycosylation. The publication can be found here: https://pubmed.ncbi.nlm.nih.gov/34143952/ 

FCDGC investigators participated in a publication that discusses how patients with PMM2-CDG may be at risk for adrenal insufficiency and should be monitored for this. The publication can be found here: https://pubmed.ncbi.nlm.nih.gov/34140212/ 

FCDGC investigators participated in a publication that discusses how pathogenic mutations in the ALG13 gene may alter protein glycosylation in female and male subjects and look to understand the mechanisms of this. The publication can be found here: https://pubmed.ncbi.nlm.nih.gov/33734437/ 

FCDGC investigators participated in a publication that shares expanded knowledge about ALG3-CDG and it’s symptoms and biochemical processes. The publication can be found here: https://pubmed.ncbi.nlm.nih.gov/33583022/ 

FCDGC investigators participated in a publication that presents a new process for monitoring patients with PGM1-CDG taking an oral D-galactose supplement. The publication can be found here: https://pubmed.ncbi.nlm.nih.gov/34043239/ 
Resources for Your Doctors
Regarding Liver Concerns in CDG
By Andrew Edmondson, MD, PhD

FCDGC investigators continue to work hard to improve the clinical care of all patients with CDG. Abnormal liver enzymes and liver problems are a concern for many CDG patients. FCDGC educational fellow, Christin Johnsen, teamed up with FCDGC physician, Andrew Edmondson, to concisely summarize the important medical aspects of monitoring and treating liver concerns in CDG. This resource for physicians contains information about MPI-CDG, TMEM199-CDG, CCDC115-CDG, ATP6AP1-CDG, SLC37A4-CDG, PMM2-CDG, PGM1-CDG, ALG1-CDG, ALG3-CDG, ALG6-CDG, ALG8-CDG, ALG9-CDG, ALG13-CDG, SRD5A3-CDG, ATP6AP2-CDG, COG-CDG, ALG12-CDG, SLC35A2-CDG, SLC39A8-CDG, and TMEM165-CDG. It also summarizes medical expert consensus guidelines for monitoring and treating MPI-CDG, TMEM199-CDG, CCDC115-CDG, ATP6AP1-CDG, PMM2-CDG, and PGM1-CDG. This resource has been made freely accessible to everyone: https://doi.org/10.1002/cld.1105. If your CDG is covered, or you have liver concerns, I encourage you to share this resource with your primary care physician or GI/Liver specialist.
Global Day of Giving - November 30, 2021

Join CDG CARE on Tuesday, November 30th as we participate in the annual Global Generosity Movement and take part in this year's Giving Tuesday initiative. This has been another 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 2021. 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 $10,000! 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! Help us raise funds for our 2022 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) Visit our dedicated Giving Tuesday fundraising page by CLICKING HERE, 2) Visit our website donation page to give through Paypal 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. 
World CDG Organization:
Resource, Education & Research Updates
Did you know that CDG is a family of very rare diseases, and the most common form (PMM2-CDG) is estimated to have a prevalence of one in every 20,000 people?
There are over 140 different types of CDG. Each of them is caused by variants in a specific gene.
See our resources here: https://worldcdg.org/resources
Why are clinical trials important? 
The advances in Medicine and Science are the result of new ideas and approaches, developed through research.
Through clinical trials, researchers are looking at which approaches are most effective, so this is the best way to test new treatments that must be proven safe and effective, before becoming widely available.
Questions? Find the answers to your questions here: https://worldcdg.org/clinical-trials/clinical-trials-faq#one
A big THANK YOU to all who participated in the 2nd phase of the "CDG Patient Journey Mapping" survey aimed at  capturing the full picture of the people living with CDG from different perspectives: the ones living with CDG, their caregivers and the healthcare professionals involved. 

Also we are grateful to our young research collaborator for his motivation and dedication showed during the creation and establishment of this relevant CDG project! 
This survey had the specific goal: 
  • To describe the experiences during the quest for CDG diagnosis, and identify CDG-related information needs throughout the CDG journey (since diagnosis),
  • To map the level of awareness about the development and dissemination of Clinical Guidelines (CGs) for CDG, 
  • To collect experiences on participation in CDG clinical research
  • To identify current support measures and gaps given by Worldwide CDG patient groups,
  • To assess digital solutions tailored for people living with CDG and their family members.

Once the results are collectively analyzed, we will make available the results in a dedicated section: https://worldcdg.org/research-cdg-journey-mapping/survey-1-results-dashboard
The collective and anonymous results from the present study will: 
Be published in different formats to allow their use for advocacy and policy making at international levels (we plan to publish an article, fact sheets and infographics).
Better define the need for resources, and allow for better tailored initiatives for people who live with CDG, healthcare professionals or stakeholders’ individual needs, helping the person who lives with a certain disease experience and leading to improved individuals outcomes.
The survey was available in 4 languages: Portuguese, English, Spanish and Italian.
Learn more about this survey at: https://mla.bs/356d1e0a
The World CDG Organization launches a new activity that consists in sharing relevant CDG articles with our community. The goal is to increase families empowerment and allowing them to be equipped with reliable information that they can share with their medical doctors, families, teachers and so forth. 
Also soon a virtual library will be available on World CDG Organization. 
Here it goes one example: 
With the purpose of studying galactose supplementation in SLC35A2-CDG, ten individuals living with this disease were supplemented with oral D-galactose for 18 weeks.
Learn more about the purpose, methods, results and conclusions of the article "Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG" in: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275909/    
Contact us to learn more: https://worldcdg.org/contact
Done WITH and FOR CDG: The CDG & Allies - Professionals and Patient Associations International Research Network (CDG & Allies - PPAIN) is developing an unprecedented project worldwide, which aims to assess the quality of life of people living with congenital disorders of glycosylation (CDG). The investigation is led by the network researcher Carlota Pascoal.