Vol. XV - January 2022 | Email Us | CDGCARE.org
In this Issue
  • CDG/NGLY1 Conference Update
  • Voices of the Community
  • News from the FCDGC
  • Updated from CURE SRD5A3
  • Rethinking social media to empower CDG Communities
  • World CDG Organization Resources
  • Rare Disease Day 2022!
Advancing Education, Awareness,
and Research - Together
Join us for the 2022 CDG Scientific & Family Conference, February 25 – 27, 2022 in San Diego, California!
CDG CARE is honored to again be collaborating with Sanford Burnham Prebys to bring you this 3-day event hosting educational sessions focusing on "CDG Models & Therapy".
Researchers, clinicians, patients, family members, industry experts, and inspirational advocates will be bringing their expertise, discoveries, and special stories to Mission Bay in San Diego and together, we will foster new perspectives, ideas, and collaborations to accelerate therapeutic efforts for those affected by CDG & NGLY1-deficiency.

The discounted hotel room block has been extended to January 28th, and registration closes February 9th! So, CLICK HERE to visit our event landing page and reserve your tickets today!

In light of the ongoing COVID-19 pandemic, the health and safety of attendees, presenters, exhibitors, staff, and the local community is a priority for this event.
To ensure the safest possible in-person gathering, vaccinations and mask wearing will be required to attend the conference sessions. For detailed information regarding the Conference Safety Protocols, please CLICK HERE.
Voices of the Community
By Ashleigh Linthicum

One of my biggest struggles was learning how to truly advocate for my girls. God used nurses to help me find my voice. Holly didn’t get a diagnosis until after she passed. Alexa was diagnosed and we slowly found our community. Now, I’m able to learn from others and share my experience so other families can find their voice. That makes a rare diagnosis so much less intimidating. Finding this community has been a dream come true. I never imagined we would find where we fit with Holly. Now, we have a community worldwide.
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 19 patients enrolled in 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. Preparations are underway and more information will be coming soon about how to get involved. 

FCDGC investigators have been working hard to better understand the repurposed drug, Epalrestat, and how it may be a treatment for PMM2-CDG. Epalrestat is a drug used in diabetes that improves PMM2 function in models of PMM2-CDG, including in patient cells. Investigators found a biomarker called sorbitol which is elevated in the urine of severely affected PMM2-CDG patients, especially if they have neuropathy or liver disease. Epalrestat targets sorbitol to decrease it. A PMM2-CDG patient who has been taking Epalrestat for over a year showed improvement in balance, growth and in her CDG related metabolic abnormalities. These findings suggest that Epalrestat improves CDG metabolism and is a promising drug candidate in PMM2-CDG. 

The research findings were published in Annals of Neurology here: https://onlinelibrary.wiley.com/doi/10.1002/ana.26245

Natural History Research Study
The natural history research study is still underway. Approximately 202 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 Collaborations
FCDGC is growing! We have added new collaborations at Centro de Investigatión en Dinámica Celular (Mexico) with Dr. Iván Martínez Duncker and University of North Carolina Chapel Hill with Dr. Elizabeth Jalazo. Welcome to our group!
Iván Martínez Duncker, MD ScD, joined the FCDGC research team in December 2021. He is Head of the Human Glycobiology and Molecular Diagnosis Lab at the Cell Dynamics Research Center of the Morelos State University in Mexico and his interests are centered in the glycobiology of the immune system as well as in the diagnosis and research of CDGs. He reported the first known case of SLC35A1-CDG as well as the first cases of different types of CDG in Mexico, including ATP6V0A2-CDG, PMM2-CDG and ALG1-CDG. He is committed to increasing diagnosis and research in Latin America and other regions in the world in order to strengthen the global CDG community in their search for a better quality of life.
Elizabeth Jalazo, MD joined the FCDGC research team in November 2021. Dr. Jalazo is an Assistant Professor of Genetics & Metabolism in the Pediatrics Department at University of North Carolina in Chapel Hill. She has over 11 years experience in pediatrics with special training and skill in diagnosing, preventing, and treating childhood illnesses. As a practicing clinician, Dr. Jalazo performs medical diagnosis and treatment of diseases and conditions affecting young patients from infants to teenagers. Dr. Jalazo also serves as the Director of Clinical Integration for the Angelman Syndrome Foundation (ASF) where she oversees the operation of eight domestic and four international ASF Clinic Networks. The FCDGC is delighted to have Dr. Jalazo join the team and expand her commitment to develop effective therapeutics, advance research, and share her expertise in neurological, psychopharmacological and clinical trials research into the field of CDGs.
Other News
A collaboration between FCDGC members at Mayo Clinic and University of Minnesota has provided a funding opportunity to explore endocrine, sexual, and bone health in patients with PMM2-CDG. Patients enrolled in the natural history study may be eligible to participate and will have the option to enroll at either the Mayo Clinic or University of Minnesota. More information is forthcoming.
The FCDGC posted a call for Pilot and Feasibility Grant Projects for 2022 along with CDG CARE. These awards are intended to support projects that will provide preliminary data for new, extramural grant submissions. The review criteria will emphasize innovation and the potential of the project, if successful, to have a significant impact on an important research problem. FCDGC 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. The duration of the awards will be 12 months. The grant submission window is now closed and applications are being reviewed. Keep a look out for the announcement of our awardees soon!

New patient education resources were recently added to our website for GPI Anchor Disorders: https://www.rarediseasesnetwork.org/fcdgc/flyers 
CDG CARE is delighted to share the following exciting research updates from our friends at Cure SRD5A3! You can also keep up to date and follow Cure SRD5A3 on their website: curesrd5a3.com
Improving Diagnosis of CDG using
Artificial Intelligence
Diagnosing SRD5A3-CDG From a Photograph with Face2Gene
Many genetic diseases are associated with the appearance of distinctive facial features in affected patients. Being able to identify these features can help healthcare providers diagnose future SRD5A3-CDG patients more quickly and correctly. FDNA has developed a technology – Face2Gene - which can detect facial features associated with different genetic diseases. Face2Gene is widely used by medical professionals around the world and can already identify some CDG types in patients such as PMM2-CDG and PIGT-CDG.
This month, Cure SRD5A3 will be launching a research collaboration with FDNA to develop a method for identifying future SRD5A3-CDG patients on the Face2Gene platform!
Diagnosing CDG on the Khure Health Platform

People living with a rare disease often wait many years and visit a number of specialists before receiving an accurate diagnosis. Khure Health has developed an artificial intelligence platform to help physicians identify and treat rare disease patients sooner.
Cure SRD5A3 is currently collaborating with Khure Health to develop a method for their platform to help diagnose patients with CDG!
SRD5A3-CDG Natural History Study
In 2020, Cure SRD5A3 collaborated with Dr. Goodspeed at UT Southwestern Medical Center to conduct a clinical study in a cohort of 6 patients to better understand the symptoms and natural history of SRD5A3-CDG. The findings from this study will soon be submitted for publication!
Rethinking social media to empower
CDG communities
By Ivan Martinez Duncker, MD, ScD

“Thinking again can help you generate new solutions to old problems and revisit old solutions to new problems. It’s a path to learning more from the people around you and living with fewer regrets”. Think Again by Adam Grant

Families and patients dealing with CDG, as occurs for most rare diseases, suffer globally from inadequate allocation of resources for diagnosis, personalized care, as well as basic and applied research towards better therapies. The low prevalence of each type of CDG causes geographical dispersion of patients and their families, making it difficult for them to be identified and heard in their communities, as well as to organize themselves and be involved in activism to change their reality. If we break it up into more than 140 different types of CDGs, this becomes more severe, because although a glycosylation defect is the common ground, clinical heterogeneity among CDGs requires many specific needs for each type of CDG, particularly for the development of specific corrective therapies.
Through many interplaying factors, this challenging context reduces quality of life and avoids the implementation of reforms to achieve adequate public policies.

Additionally, the goal of making available corrective therapies is hindered by the difficulty of attracting the attention of Big Pharma and health authorities, as well as by not being able to recruit enough patients for clinical trials to assess potential treatments. For researchers, getting involved in rare diseases is not an easy decision, not only because of the low number of patients to study, but also because CDGs have not been diagnosed in most countries around the world, making CDG research risky in the face of public research systems that may not deem them of public interest. Therefore, increasing the numbers of well identified and organized CDG communities (patients, families, researchers, clinicians, entrepreneurs, NGO´s, politicians, etc.) is a priority to attain the social and political influence required to push through the prejudice and red tape that globally affects CDG patients acquiring a better quality of life.

I am convinced that to become BIG we must increase the number of diagnosed patients around the world, which is a task that is huge by itself and that has not been appropriately addressed. But also, and most importantly, we need to constantly rethink the way we empower ourselves through improved networking, implementing disruptive game-changing strategies. We have seen how rethinking the way we do things has brought hope for new drugs through public benefit corporations such as Perlara, showing us that we must not limit our actions inside the boundaries of conventional thinking.

Of course, CDG communities have accumulated more than 40 years of experience, attaining a critical mass of families and researchers that have accomplished important milestones, such as the creation of family organizations, specialized interdisciplinary annual meetings and research consortiums. Nonetheless, these accomplishments are still far from benefiting most of the global population and are mostly limited to the USA and Europe.

We must change this, not only because it is the right thing to do, but because it will be of benefit for everyone affected by CDG (win-win).

A literature database search (SCOPUS) spanning 2011-2021 of research papers containing the term “Congenital Disorders of Glycosylation”, resulted in 2,632 documents. Regional affiliation of researchers for these documents was as follows:
From this data, one can speculate that there is a grave inequality in global CDG knowledge and research that most likely reflects in the number of patients being diagnosed. We can also speculate that CDGs are not being diagnosed in most parts of the world and that identified and organized patients represent only a minority of the total number of CDG patients.

Therefore, we must urgently rethink our networking strategies, because for most of the world, conditions for CDG patients are not advancing at the rate they should. We need to improve how we actively involve with the public and create new allies, understanding that only global strategies will be fully effective to tackle the obstacles for CDG patients. Limiting our efforts to nation-based strategies would be a mistake. I am convinced that a way to do this is to use social media platforms actively and intelligently.

It is well-known that the rapid expansion of social media over the last decade has provided rare disease patients a means to find each other, as well as to access social and informational support, research, and advocacy. This has become more important in the current pandemic. Successful networking must identify and join CDG patients and families in a common fight, but it must also be able to change their reality around the world, actively meeting new social, economic, and political actors so they can join in. For example, CDG patients’ families from the United States and Africa or South America need each other to participate in clinical trials for new drugs. But how can we make this work if CDG diagnosis is not being made in most African or south American countries? We have the educational and technical platforms to change this, but we do not have the connections or strategies to make our network reach into other regions and realities. In this global inequality, everyone loses. Social media is a catalyst of change, and we must embrace it, learning how it can creatively work for CDGs.

Rethinking CDG networking must involve the use of social media to:
  1. Make CDGs a social and political issue that is talked about each day in many parts of the world. Push policies with BIG P and little p.
  2. Create dynamic and useful partnerships, erasing borders and joining efforts by using translation technology and regional CDG ambassadors.
  3. Learn from others and avoid harmful bias in CDG organizations, including getting to know the different challenges for CDG diagnosis and research around the world, as well as the learning curves of other rare disease organizations.
  4. Allow patients and families to access comprehensive evidence-based digests of the current issues they should know about (political/scientifical/medical).
  5. Share personal experiences through interviews and interdisciplinary panel discussions, so different social and political actors join in and meet around CDG communities, enabling new partnerships and joint projects, that are based in personal and heartfelt commitments.
  6. Introduce CDGs to other social and health networks to achieve synergy.
  7. Perform social media analysis to collect data and obtain powerful insights that feedback organization policies. 

In conclusion, it is my hope that we can start talking more about how we can rethink the way we make social media work better for CDG patients, helping us create more partners and less borders and to become a BIG minority with the power to pulldown the barriers for every CDG patient around the world. I am confident that this will highly benefit the lives of all our patients. Disease does not recognize any borders, nor should we.
World CDG Organization:
Resource & Education Updates
NEW YEAR but the same PRIORITIES!!

Share yours NOW... 
Knowing what symptoms/signs in need for treatment should be prioritized as one of our CDG community goals!
The "Prioritizing Symptoms Impacting Quality of Life for CDG" questionnaire for families and caregivers is officially open and available in 7 languages! 

To participate CLICK HERE. If you have any questions related to this key international project, please write us at https://worldcdg.org/contact

Remember that your contribution is very important, because the collection of CDG experiences allows us to better understand how the care and management of CDG symptoms is currently done. In addition, it is crucial to define better tailored therapies!

Please note, we are especially grateful to our recent team members:
  • Pedro Granjo, who embraced this project with great enthusiasm and devoted numerous hours and days to make it happen!
  • Also, Madalena Parrado, is being of great support in helping prepare the communication and dissemination activities related to this project.
Today the spotlight goes to GMPPA-CDG. The first patients with GMPPA-CDG were described in 2013. We wish to increase awareness for this CDG type by sharing that we have available two relevant resources for families that live with this CDG type:
  • On one hand, we have prepared a summary using the most relevant up-to-date biomedical literature.
  • How can you use this information? As a family, you can use this summary to facilitate communication between you and your medical team. If you are a medical doctor or a researcher, this resource can be extremely helpful to train and inform your peers about this CDG type and as a result, you will attract more professionals towards CDG!
  • On the other hand, we have produced a lay language infographic that you can use to raise awareness and education among general public.
See this and other available resources here: https://worldcdg.org/resources

If you want to request a summary and/or lay language infographic, please write us at https://worldcdg.org/contact

We believe, that by making these reliable resources available to our CDG community, we are contributing for a better understanding and awareness about different CDG types. This is of great help to ameliorate the care and management given to our CDG children’s and adults.

We are proud to announce that the Web based platform, World CDG Organization, will be enriched with more content of great relevance for our community.
We recognize the need for accessible, engaging and effective digital education on CDG. Thus, CDG & Allies continues working to equip CDG families, healthcare professionals, researchers, regulators, pharmaceutical companies and related key stakeholders, with the information they need to improve outcomes of those living with CDG.

Some novelties will include:
  • Availability of several materials related to the 5th World Conference on CDG held in May 2021 (reports, FAQs, videos, posters and other resources will be made available). To have access to this material you need to Log in at the https://worldcdg.org/.  If you do not have an account, please create one HERE)
  • Several new sections will be launched such as:
  • What is CDG?
  • Where do we stand as for epidemiology in CDG?
  • Summary about Therapies for CDG in lay language*
  • *This will complete the existing sections like the CDG therapeutic pipelineexplore clinical trials for CDG
  • Where can we find reliable information about rare diseases?
  • Where can we find specialists for rare diseases (notably CDG)?
  • And many others! STAY TUNED!
Countdown to Rare Disease Day 2022!
Mark your calendars... the countdown has begun and with just 38 days to go - RARE DISEASE DAY is February 28, 2022!
*FUN Fact... Did you know? The zebra is the official symbol of rare diseases in the United States and is noted for its black and white stripes, which are central to the uniqueness of all families affected by rare disease.
Join our efforts, share our social media posts, and help us build awareness for CDGs, NGLY1-deficiency, and rare diseases around the world this February 28th!
You can also visit the official Rare Disease Day website by CLICKING HERE and find ways to get involved and support this global initiative. CDG CARE will be highlighting specific aspects of the campaign through February, so make sure to Like and Share our posts from our Facebook page, Instagram or Twitter throughout the month.

To kickoff these efforts and show your support, update your Cover Photo to one of the many RDD images, or copy the one we have customized below! The official “Rare Disease Day” Facebook frames are also available, so search for them in Profile Frames and give your current picture some RDD LOVE!

Stay tuned for more to come and SHARE our messages to help make a positive impact for all those living with a rare disease!