In this Issue
- Global Day of Giving
- Celebrate your HERO
- News from the FCDGC
- Research Grant Report
- Current Research Opportunities and Clinical Trials
- Policy and Advocacy: Sharing Patient Experiences with the FDA
- CDG Children's Story Book Now Available
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Give the Gift of HOPE this Year! |
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Join CDG CARE on Tuesday, November 29th as we participate in the annual Global Generosity Movement and take part in this year's Giving Tuesday initiative. We devote this special day to giving back to things that really matter, supporting causes that are in our heart and unleashing our generosity in hopes to make a difference.
As we step into the giving season, we are asking for your support to help make this worldwide movement a reason to celebrate in 2022. 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! All donations made directly to this campaign through the month of November will be matched!
CDG CARE invites you to support our rare community and help us reach our campaign goal of $20,000 and to give the gift of hope to all families that have been affected by CDG. Even the smallest donation can have a HUGE impact for our families!
There are three ways to GIVE this year:
❶ Visit our dedicated Giving Tuesday fundraising page by Clicking HERE
❷ Visit our website donation page to give through PayPal by Clicking HERE
❸ Send a check made payable to CDG CARE and mail to: CDG CARE, P.O. Box 38832, Colorado Springs, CO 80937
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They say that a true hero is not measured by the size of their strength, but by the strength of their heart. The CDG CARE Hero of the Month initiative highlights the courageousness, determination, fearlessness and joy our children inspire throughout our rare community every day. It's been almost four years since we shared our first CDG Hero of the Month with you and it's become a community favorite! Make sure you are following CDG CARE on Facebook and Instagram so you don't miss our families sharing the strength and determination of their CDG heroes.
We would love to highlight your hero! If you would like to share your hero's story with us, please email KMorici11@gmail.com.
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**Follow FCDGC on Twitter @FrontierCDG**
Natural History Research Study
The natural history research study is still underway. Over 270 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
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 Kaitlin Schwartz at schwartz.kaitlin@mayo.edu.
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Highlighting our FCDGC Fellows
Silvia Radenkovic joined the FCDGC research team as a postdoctoral fellow in February 2022. Previously, she completed her Ph.D. at the KU Leuven in Leuven, Belgium, and Mayo Clinic, Rochester, MN, under the supervision of Dr. Eva Morava and Dr. Bart Ghesquière. Her main interests are inborn errors of metabolism, such as CDG. Her current research focuses on using different omics in IPSC and IPSC-CM to uncover novel cardiac-specific pathomechanisms and potential therapeutic targets to treat CDG. With her research, she hopes to provide a better understanding of biochemical underpinnings in CDG which will result in better clinical care opportunities for patients.
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Rohit Budhraja joined the FCDGC research team in February 2021. He obtained his Ph.D. degree in biochemistry from Technical University of Berlin, Germany for the work that he carried out at Helmholtz Centre for Environmental Research, Leipzig, Germany. He is a Postdoctoral Fellow working with Eva Morava-Kozicz, MD, PhD and Akhilesh Pandey, MD, PhD, at Mayo Clinic, Rochester campus. His main interest is in exploring mass spectrometry-based glycomics, glycoproteomics and proteomics methods to study CDG to identify potential biomarkers for their clinical diagnosis and therapeutic targets. He hopes to contribute to the Mayo Clinic CDG research team and help CDG patients while understanding more about the disease. |
Publications
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 explore 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.
A case report about a young child who reported to the emergency department with fever, cough, congestion, and failure to thrive. Clinicians found that he had undiagnosed PMM2-CDG in addition to a large pericardial effusion. Researchers describe the need for early CDG diagnosis, and the challenges associated with it during the COVID-19 pandemic.
ALG8-congenital disorder of glycosylation (ALG8-CDG) is a rare, inherited disorder that affects multiple systems in the body. Patients with ALG8-CDG commonly present with decreased muscle tone, intestinal problems, and liver problems. In this study, researchers describe seven new individuals with ALG8-CDG, bringing the total to 26 individuals reported in medical literature. The team diagnosed these patients based on biochemical and molecular testing, identifying nine novel variants in ALG8. The cohort also includes the two oldest patients reported to date. This study expands the phenotype of ALG8-CDG to include stable intellectual disability, autism spectrum disorder, and other neuropsychiatric symptoms. Researchers also expand the clinical features in a variety of organ systems. To improve clinical management, authors suggest a comprehensive evaluation and monitoring strategy.
Other News
FCDGC is working to gather data about CDG patients who have had COVID-19. Those in the natural history study will be eligible to complete the survey, which will be sent out by your study team.
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Grant Report: Zebrafish Model Study Finds that Short Term Epalrestat Treatment Rescues Early Aspects of Molecular and Cellular Phenotypes associated with PMM2-CDG |
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Using a zebrafish model of PMM2-CDG, researchers at the Greenwood Genetic Center previously identified two classes of enzymes, the furin proconvertases and matrix metalloproteinases, as candidate drivers of disease pathology. These findings highlighted a novel mechanism associated with PMM2-CDG phenotypes and also provided an important set of robust biological read-outs to identify and evaluate novel therapeutic modalities in specific tissues. Through a grant from CDG CARE, the research team headed by Dr. Heather Flanagan-Steet utilized this information to better understand the mechanism by which the new therapeutic candidate epalrestat functions. They found short term epalrestat treatment rescued early aspects of the molecular and cellular phenotypes associated with abnormal motility and altered craniofacial development in pmm2-deficient zebrafish. In collaboration with Dr. Eva Morava’s group at the Mayo Clinic, they also performed metabolic analyses of pmm2-deficient zebrafish, which has provided novel insight into the disease process. Ongoing studies will continue to harness this information to further elaborate disease mechanisms and identify additional therapeutic options.
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FCDGC Natural History Study
Provides Update on ALG8-CDG
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The FCDGC Natural History study recently published an update on ALG8-CDG, reporting on seven additional ALG8-CDG individuals (many of whom are in the FCDGC Natural History study), bringing the total to 26 individuals with ALG8-CDG in the medical literature. This report includes the two oldest patients reported and more mildly affected individuals than reflected in most of the prior literature.
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Current Research and
Clinical Trial Opportunities
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CDG Clinical Trial Opportunity for SLC35C1 (LADII) patients!
As our dedicated CDG medical professionals and industry partners strive to advance research and identify treatments for all types of CDG, we are delighted to share that a new clinical trial is currently recruiting for SLC35C1 (LADII) patients!
To learn more about this trial CLICK HERE. And if you are interested in contacting a Mayo Clinic Research Coordinator regarding potential enrollment in this study, we encourage you to send an email to Schwartz.Kaitlin@mayo.edu
Research Opportunity to Advance Newborn Screening Initiative
for CDGs!
In collaboration with the FCDGC and our patient association partners, this project is underway to determine the feasibility of newborn screening for N-linked glycosylation disorders at birth. Initial data submissions have already shown encouraging results between identifying CDG on newborn screening spot cards, so we are asking everyone who is eligible to consider participating today!
Here are the details for families who are interested in joining this effort:
WHY – This study is so important because the findings will support newborn screening for N-linked CDGs. Establishing early diagnosis is important to enable early monitoring, treatments, and provide opportunities to start targeted therapies when available which could potentially halt the progression of the disease and improve clinical outcomes!
WHO – Our target audience is all families in the USA who have a confirmed diagnosis of an N-linked glycosylation disorder (PMM2, MPI, PGM1, SLC35A2, ATP6AP1, MOGS, all of the ALG CDGs, etc). In addition, children/young adults of any age can participate if they were born in the one of the following states: California, New Jersey or New York. For all remaining birth States, in order to be eligible to participate… the age of the child diagnosed with CDG must be < 2 years old. (This is due to the fact that only CA, NJ & NY keep newborn screening blood spot cards on record for >10 years, all other States discard these records after 2 years).
HOW – Qualifying families who are interested in participating should email the research professional leading this initiative at Hem@chop.edu. You may also call and leave a voicemail at 215-590-1177. The participation process is easy. Parents/Caregivers will be guided through filling out the required forms to have their child’s newborn screening blood spot cards sent in for research analysis. No new blood collection is necessary.
WHEN – The deadline for this project is December 31, 2022… so we encourage interested families to email or call the research team as soon as possible.
Epalrestat Clinical Trial for Pediatric PMM2-CDG Patients is Enrolling!
After many months of working through the design, regulatory requirements, and development of this highly anticipated clinical trial, Maggie's Pearl has just announced that the Epalrestat clinical trial for pediatric PMM2-CDG patients is now enrolling!
All 40 patients who participate in this clinical trial will be seen at the Mayo Clinic in Rochester, MN for their initial and follow-up appointments. The Mayo Clinic will also be managing all recruitment, travel reimbursement and coordination of study visit dates. It is anticipated that all initial appointments for study participates will be completed by mid-February 2023.
To learn more about this trial you can visit the study site by Clicking HERE. To schedule your appointment, please contact Jessica Ward at Ward.Jessica1@mayo.edu or call 507-266-9619.
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Adult PMM2-CDG Global Clinical Trial |
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Glycomine is committed to developing therapeutics for serious rare diseases, such as PMM2-CDG (also known as CDG-1a).
Glycomine is developing GLM101, a mannose-1-phosphate replacement therapy, designed to deliver mannose-1-phosphate directly into cells and bypass the PMM2 enzyme deficiency known to cause the disease. Glycomine recently completed a Phase 1 clinical study in healthy volunteers and is currently recruiting adult patients for a Phase 2 clinical study in the United States, Australia, and Spain.
In addition to clinical studies, Glycomine offers confidential no cost genetic testing to patients suspected of having PMM2-CDG, but do not have access to genetic testing for a definitive diagnosis. If you have questions about confidential, no cost genetic testing or clinical trials with Glycomine, please visit us at: www.glycomine.com or email us at info@glycomine.com.
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Sharing the CDG Patient Voice with the FDA |
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On January 30th, 2023, CDG CARE will have the honor of hosting a Patient-Led Listening Session with the United States Food and Drug Administration (FDA).
This session was granted after CDG CARE submitted an application to the FDA in April 2022. As CDG research is advancing and multiple therapeutic agents are in the pipeline, CDG CARE identified the critical need to engage with the FDA and make sure that they are educated on CDGs, including the diversity of different CDG types, symptoms, and clinical challenges experienced by patients, parents and caregivers across this spectrum.
The purpose of this session is to take a proactive approach to lay the foundation across 6 different CDG types, illustrating the challenges, risks and unmet medical needs of our community through presentations prepared by CDG CARE, six volunteer parent advocates and our CDG medical expert representative.
Every office within the FDA was expressed interest in attending our upcoming session and we are very encouraged by the feedback we have received from our coordinating team within the FDA. We look forward to updating our patient and professional community on the outcome of this session and we will share the session summary in a publication in Spring 2023.
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CDG Children's Story Book is NOW AVAILABLE! |
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CDG CARE is excited to share and support the publication of the highly anticipated CDG Children's Story Book by the Amour Fund!
We encourage our community members to take a look, order this book, and consider gifting it to family and friends this holiday season. With your help, we can continue to raise CDG Awareness among our children, peers and communities by joining A.Z. on his adventures to the Sugar Tree Forest!
The storyline features the adventures of a little boy on a quest to collect “glycan fruit”, which his body needs to remain healthy and happy. Along the way, he and friends find the solutions they need to reach the Sugar Tree Forest and return home. A.Z.’s Adventures to the Sugar Tree Forest is inspired by the determination of children with CDG, who live and thrive in a non-CDG world. Individuals with CDG overcome adversity on a daily basis. The message of the book is that of inclusion, teamwork and perseverance.
To purchase a copy of the book, please Click HERE and select "Buy Now". The fee included on the website is a set fee for shipping within the U.S.
If you are ordering from outside of the U.S.A, please email info@amourfund.org to confirm shipping fees.
All of the proceeds from this book will be used towards CDG research projects. Thank you for your support!
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