Vol. IX - February 2023 | Email Us | CDGCARE.org

In this Issue

  • CDG Education & Save the Dates!
  • Voices of the Community
  • News from the FCDGC
  • GPI Anchor Disorder Research Opportunity
  • CURE SRD5A3 Research Updates
  • Recent Policy and Advocacy WINS
  • 6th World Conference on CDG
  • CDG CARE Awareness Campaigns & Launch of Merchandise Store!

CDG Education - Save the Dates!

CDG CARE and the Sanford Children's Health Research Center are delighted to announce that planning is underway for TWO upcoming CDG Scientific and Family events!

On April 29, 2023, we invite CDG professionals and families to join us in La Jolla, California for the first-ever, Sanford Children's Health Research Center Scientific Symposium! Attendees will participate in a full day of scientific knowledge sharing centered around multiple rare diseases and conditions including Multiple Hereditary Exostosis, perinatal asphyxia, cystinosis, CDGs, and more! Following the scientific agenda - a professional, patient and family reception will be held. The event will take place at the Sanford Burnham Prebys Auditorium and additional details including the agenda and registration will be shared very soon!

CDG CARE is also honored to again be collaborating with the Sanford Children's Health Research Center and partners as our planning is underway for the 2024 Rare Disease Day CDG/NGLY1 Scientific & Family Symposium! Mark your calendars... as we are currently seeking available venues in the San Diego, CA area for this 3-day event to be held at the end of February, or early March 2024!

Researchers, clinicians, patients, family members, industry experts, and inspirational advocates will be bringing their expertise, discoveries, and special stories to San Diego and together, we will foster new perspectives, ideas, and collaborations to accelerate therapeutic efforts for those affected by CDG & NGLY1-deficiency.

Voices of the Community

By: Heather Conneran, Mom to Bella

In honor of Rare Disease Month and the 5yr Anniversary of the passing of our sweet daughter, Isabella, I wanted to share our story.

“Bella” was the most joyful little girl greeting you from the moment she woke up with a smile that would brighten your day. She loved reading books, going for walks or bike rides and being with family and friends.


Bella had a brand new CDG type called “FUT8” that was extremely debilitating. We didn’t receive a diagnosis until she was over 2 and a half years old. It was great to finally get a diagnosis, but also scary as there was only one other child known with this CDG type. Since then, there’s been several others that have been diagnosed with this type of CDG thanks to Bella and Kati, the original two.


Shortly after losing Bella, we attended our first CDG Conference. It was supposed to be our first family trip and we were excited to meet other CDG families. It was hard to attend without Bella but I’m so glad we attended anyway. We were immediately embraced by the CDG family and it felt reassuring to be surrounded by those who “get it”. 

After that event, I knew I had to be involved with CDG CARE and became a member of the Board of Directors. It allows me to honor Bella, while helping other CDG families. In the past five years, I’ve seen tremendous growth in research and clinical trials for CDG. There is such a brighter future for CDG patients!


To say this has been a hard journey would be an understatement, but knowing we don’t travel the journey alone helps us keep going. Lots of love and gratitude to Bella and the CDG community. 

News from the FCDGC

**Follow FCDGC on Twitter: @FrontierCDG**

Natural History Research Study

The natural history research study is still underway. Nearly 300 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 

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 Alexandra Miller at miller.alexandra@mayo.edu


Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement 

Congenital disorders of glycosylation (CDG) are a large group of rare, inherited disorders that affect a complex process in the body called glycosylation. Defects in Golgi enzymes, which play a critical role in N-glycan processing and brain development, are often defined as types of CDG. However, defects in the Golgi enzyme MAN2A2 have not been known to cause defects in glycosylation. In this study, researchers investigated the effects of variants in MAN2A2. In a family of affected individuals, the team performed exome sequencing, analyzed N-glycans, and designed a cell-based complementation assay to evaluate the disease-causing effects of the variant. Findings show that variants in MAN2A2 cause a new type of CDG, which is characterized by neurological involvement and facial dysmorphism. Authors note that the cell-based complementation assay designed in this study can also help diagnose patients with potentially pathogenic variants in a very similar enzyme, MAN2A1. - Mahajan S, Ng BG, AlAbdi L, Earnest PDJ, Sosicka P, Patel N, Helaby R, Abdulwahab F, He M, Alkuraya FS, Freeze HH. Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement. J Med Genet. 2022 Nov 10:jmg-2022-108821. doi: 10.1136/jmg-2022-108821. Epub ahead of print. PMID: 36357165.

Exploring the Role of NGLY1 Deficiency in Patients with NGLY1-Congenital Disorder of Deglycosylation 

NGLY1-CDDG (congenital disorder of deglycosylation) is a multisystemic, inherited condition caused by a mutation in the NGLY1 gene. Although the NGLY1 enzyme plays an essential role in the process of deglycosylation, the effects of NGLY1 deficiency on protein glycosylation are not yet understood. In this study, researchers explored the hypothesis that NGLY1 deficiency leads to accumulation of misfolded glycoproteins. Using glycoproteomics and proteomics methods, the team analyzed fibroblasts from four patients with NGLY1 deficiency carrying different variants in NGLY1. Results showed no significant accumulation of glycoproteins in the NGLY1-deficient fibroblasts. However, researchers found distinct changes in specific glycoproteins. As the first study of its kind, authors note that these findings highlight new insights for understanding NGLY1-CDDG. - Budhraja R, Saraswat M, De Graef D, Ranatunga W, Ramarajan MG, Mousa J, Kozicz T, Pandey A, Morava E. N-glycoproteomics reveals distinct glycosylation alterations in NGLY1-deficient patient-derived dermal fibroblasts. J Inherit Metab Dis. 2022 Sep 14. doi: 10.1002/jimd.12557. Epub ahead of print. PMID: 36102038.

DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype

DDOST-CDG is an ultra-rare type of congenital disorder of glycosylation (CDG) that is caused by mutations in the gene DDOST. The metabolic disorder was previously reported in just two patients, whose clinical features included severe developmental delay, failure to thrive, and hypotonia (low muscle tone). Both patients also had abnormal transferrin glycosylation. In this study, researchers describe a new patient with DDOST-CDG. The 18-year-old male presented with moderate developmental delay, progressive opsoclonus (involuntary, rapid eye movements), myoclonus (involuntary, sudden muscle spasms), ataxia (impaired balance or coordination), tremor, and dystonia (involuntary muscle contractions that cause repetitive or twisting movements). The team performed several tests, including biochemical studies, exome sequencing, plasma N-glycan profiling, and western blot analysis, to learn more about the patient’s clinical features. Authors state that these insights—including new findings on the clinical variability, phenotypes, and genotypes of DDOST-CDG—are essential for diagnosing and managing patients with DDOST-CDG. - https://doi.org/10.1002/jimd.12565 

Origin of Monosaccharide Determines Reactions in Glycosylation

Congenital disorders of glycosylation (CDG) are a group of inherited metabolic disorders that affect a process called glycosylation. This process uses monosaccharides (simple sugars) from multiple sources to produce nucleotide sugars (activated forms of monosaccharides). Since these sources of monosaccharides are assumed to contribute to one similar pool, their individual contributions are often overlooked. In this study, researchers explored the hypothesis that fucose (a type of monosaccharide) exists in multiple, distinct pools. The team measured the contribution of fucose from different sources. Findings show that cells identify and select from different pools of fucose for the process of glycosylation. Authors also present new perspectives on monosaccharide metabolism, which may have other applications beyond glycosylation. - Sosicka P, Ng BG, Pepi LE, Shajahan A, Wong M, Scott DA, Matsumoto K, Xia ZJ, Lebrilla CB, Haltiwanger RS, Azadi P, Freeze HH. Origin of cytoplasmic GDP-fucose determines its contribution to glycosylation reactions. J Cell Biol. 2022 Oct 3;221(10):e202205038. doi: 10.1083/jcb.202205038. Epub 2022 Sep 2. PMID: 36053214.

Other News

FCDGC has added new collaborators! Welcome to team! 

  • Mount Sinai – Dr. Jaya Ganesh
  • Centro Hospitalar Universitário do Porto – Portugal – Dr. Esmeralda Martins
  • General University Hospital in Prague – Czech Republic – Dr. Tomas Honzik
  • University Hospital Goettingen – Germany – Dr. Christin Johnsen
  • University of Alberta – Canada – Dr. Saadet Andrews

Research Opportunity for all

GPI Anchor Disorder Patients & Families

Through the extensive effort from researchers at the University of Utah, CDG CARE is honored to share that a new patient registry has been designed and launched to collect vital data from all patients diagnosed with CDG types that fall under the classification of GPI Anchor Deficiencies.

Help our researchers gather as much data as possible from our global patient community to collect important health care information and advance research efforts for these types of CDGs. Families and clinicians will use this registry to better understand the symptoms and genetics of these conditions.

The first 85 participants to complete the survey will be entitled to a $15 Amazon gift card (if located inside the US) or a $15 eGift card (if located outside the US). The entries for the survey will be entered to create the IGD patient registry hosted by researchers at the University of Utah.

The survey is estimated to take approximately 15-60 minutes to complete. The length of the survey is dependent upon the health complexity of each patient. We also suggest that you have a copy of your child's genetic report available and list of past and current medications on hand before completing the survey.

To participate, please CLICK HERE or on the image below to enter the survey portal.

If you have any questions, you may email the researchers at the University of Utah, Department of Human Genetics at u1369565@utah.edu

Cure SRD5A3 Research Updates

Characterization of the SRD5A3-CDG Clinical Spectrum

Findings from a collaborative clinical study between Cure SRD5A3 and Dr. Goodspeed at UT Southwestern Medical Center has been accepted for publication! This study reports on the  symptoms and natural history of a previously unpublished cohort of 6 SRD5A3-CDG patients to help further define the clinical spectrum. Stay tuned for the online publication soon!

Drug Repurposing for SRD5A3-CDG

As part of our growing therapy development program, Cure SRD5A3 is collaborating with Modelis to discover drug repurposing candidates for SRD5A3-CDG. To date, we have generated a worm model of SRD5A3-CDG and screened a library of over 4,000 FDA-approved drugs, bioactives and natural products. From the screen, we identified over 50 compounds that improved the phenotype of the worms! We are excited to share that several drug repurposing candidates are currently being tested in SRD5A3-CDG worms and patient fibroblast models! 

Retinal Mouse Model

Cure SRD5A3 is collaborating with the Jackson Laboratory to generate 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. In this mouse model, the SRD5A3 gene is not expressed in a specialized type of retinal cell, known as a rod cell, which is important for vision and is affected in SRD5A3-CDG patients. This spring we will begin phenotyping the mouse model and will soon be launching a new retinal  therapy development program! 

If you are a researcher with expertise in gene therapy and/or mouse model generation, we would love to hear from you! Email us at research@sappani.com

Together We Are Stronger!

On January 30, 2023, CDG CARE and a team of dedicated CDG parents, advocates and professionals participated in a CDG focused, FDA Patient Listening session!

Together we raised CDG awareness and education, and pulled the curtain back on the struggles that patients and families face living with CDG. This session provided our rare community the opportunity to educate FDA staff on the complex issues of CDGs, the diversity of symptoms and body systems affected among different CDG types, the effects on quality of life, the scarcity of currently available treatments, the tremendous unmet medical needs throughout our community, and preferences from families for future treatments and outcomes.

With 36 FDA attendees across all divisions, we provided an educational foundation on the diversity of CDGs and set the stage for future therapies and clinical trials to become a reality for our CDG community! We thank all of the volunteers who participated in this groundbreaking opportunity, and we will be developing a summary of the session and sharing all post-event materials with our community in the coming weeks.

Community Advocacy Leads to Policy SUCCESS!

DID YOU KNOW?! CDG CARE is a part of the Haystack Project, which is an organization that advocates for rare disease groups as it relates to treatment approvals and access.

After years of hard work, including lots of meetings with representatives on the Hill, we were a part of a very big policy win!

At the end of 2022, the HEART Act was passed by both the House and Senate Committees. This will require the FDA to work with rare disease experts and rare disease patients/families as an integral part of the review team when reviewing drugs or biologics for approval for a rare indication. 

This is a HUGE step in the right direction for rare! If you are interested in being involved with advocating for future policies that will help CDG and other rare diseases, please email our Policy/Advocacy Chair, Kara Berasi at kkberasi@gmail.com to learn more!

The 6th World Conference on CDG

This year's theme is “Building a collaborative, community-centric strategy to boost drug development for all CDGs”! In 2023 we expect nearly 300-400 families and professionals will attend in-person from around the world to gather at our World Conference on CDG to learn the newest advances dedicated to CDG. They also gather for support, strength, hope, and friendship.


Registrations for the 2023 World Conference on CDG will open in February and it will be available in our website.


The 6th World Conference on CDG includes novelties aimed at securing global participation, thanks to 3 educational tracks:

  • The "World Think Metabolic, Think CDG Academy”, composed of virtual pre-conference workshops delivered in English from May to June 2023. It is intended for people living with CDG, their family members, academia, medical doctors, and the industry. The topics will include: (1) how people living with a certain condition like CDG and related stakeholders can co-create research and drug development; (2) where do we stand as for tools to boost therapeutic research? 
  • The “World CDG Advocacy and Leadership Academy” offers in-person sessions in Caparica, Portugal, at NOVA School of Science and Technology, FCT NOVA. It is tailored for leaders of CDG patient groups and their advocates and helps our CDG Organizations and representatives to be successful and upskilled advocates.
  • And the “6th World Conference on CDG” offers in-person sessions totally dedicated to clinical trials, drug development, access to medicines, care and management for CDG. It is held in Caparica, Portugal, at NOVA School of Science and Technology, FCT NOVA. It is intended for all CDG community, as well as other rare diseases communities that may benefit from potential transferrable best practices. 

CDG CARE Launches New Awareness

Designs & Merchandise Store!

Mark your calendars everyone! RARE DISEASE DAY is on February 28th and only a few weeks away. We also will officially be kicking off the CDG Awareness Day Campaign shortly after, so be sure to follow us on social media so you don’t miss out on all the fun as we approach May 16th, World CDG Awareness Day! 


With the kick-off to these global initiatives please watch along as we paint the world GREEN! We will be highlighting specific aspects of this global campaign, community events, the U.S. Proclamation campaign, and will be sharing all of the impactful ways for you to get involved and join our efforts!  


We would also like to officially announce the launch of our new CDG CARE Awareness Merchandise Store! There is now a way to get involved just by showing your CDG pride all year long! Get your CDG swag now to raise awareness for CDG, and our community! All proceeds will go directly to benefiting CDG CARE's programs and supporting our mission. 


We are so grateful for the love, creativity, and everlasting support that our community provides!  The efforts of our CDG families and community supporters are immeasurable, and we can’t wait to watch as we unite for CDG throughout 2023! 

Facebook  Twitter  Instagram