Global CDG Clinical & Research Network (CDG-CRN)
CDG CARE is proud to lead the newly launched Global CDG Clinical & Research Network (CDG-CRN) — an international collaborative network designed to connect clinicians, researchers, laboratories, industry partners, and patient advocates working across the spectrum of Congenital Disorders of Glycosylation (CDG).
The CDG-CRN was established to strengthen global collaboration, accelerate research, improve clinical trial readiness, expand professional education, and help identify shared priorities to improve care and outcomes for individuals living with CDG. Through this effort, CDG CARE is helping foster a more coordinated, patient-centered research ecosystem grounded in both scientific expertise and lived experience.
Early priorities of the CDG-CRN include advancing collaborative research, supporting standards of care, strengthening professional connectivity, developing educational opportunities, and informing a Patient Prioritized Research Agenda (PPRA) to better align research efforts with the needs of the global CDG community.
To learn more about the Global CDG Clinical & Research Network (CDG-CRN) or become involved, CLICK HERE.
CDG Biorepository Program
CDG CARE is proud to partner with COMBINEDBrain to launch the new CDG Biorepository Program – an important global research initiative designed to accelerate scientific discovery and improve readiness for future therapeutic development in Congenital Disorders of Glycosylation (CDG).
Biological samples are among the most valuable resources in rare disease research. Through the CDG Biorepository, individuals and families affected by CDG can voluntarily contribute samples to support biomarker discovery, natural history research, disease modeling, treatment development, and future clinical trial readiness. Sample types may include blood, plasma, dried blood spots, urine, saliva, nasal swabs, and other clinically meaningful specimens depending on study and research needs.
In partnership with COMBINEDBrain, the CDG Biorepository provides the infrastructure, regulatory oversight, storage, and responsible sharing of samples with qualified researchers working to better understand CDG and develop meaningful therapies. Importantly, CDG CARE serves as a governance partner, helping ensure that the use of samples remains aligned with the priorities and best interests of the CDG patient community.
This program represents an important step forward in strengthening the research ecosystem for CDG and ensuring families have a meaningful opportunity to directly contribute to future scientific progress.
To learn more about the CDG Biorepository Program and how your family can participate in an upcoming ROADSHOW, send us an email to info@cdgcare.org.
CDG CARE Research Program
CDG CARE collaborates with leading clinicians, scientists, and industry partners around the world to advance research in areas including natural history, preclinical model development, drug repurposing, gene therapy, biomarkers, standards of care, and other novel CDG-related initiatives aimed at improving outcomes for individuals affected by CDG.
Through strategic partnerships and patient-centered collaboration, CDG CARE works to help accelerate scientific discovery, therapeutic development, and access to meaningful clinical research opportunities for the CDG community.
For scientists interested in learning more about CDG CARE’s research program and application process, email us at info@cdgcare.org.
Please note: It is the policy of CDG CARE that no portion of grant or research project funding will be allocated toward indirect or institutional overhead fees.
Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC)
The Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) is a multidisciplinary collaborative network established to advance understanding of CDG through clinical research, natural history studies, patient-centered outcomes, and improved readiness for future therapeutic development.
Over the years, the FCDGC has played an important role in strengthening clinical knowledge, supporting research collaboration, and helping address unmet needs within the CDG community. CDG CARE remains committed to supporting collaboration with professionals and stakeholders engaged in advancing CDG research and patient care.
To learn more about the FCDGC and ongoing consortium activities, visit the FCDGC website HERE.
CDG CARE – In The News…
*Press Release, July 2022 – Family-Led CDG research initiatives underway!
As part of CDG CARE’s effort to advance and diversify family-led research in the fields of CDG and NGLY1-CDDG, we now offer fiscal sponsorship opportunities for well-defined and collaborative research projects. Through this program, CDG CARE sponsors new research and time-limited projects, as well as more established grassroots projects that are mutually agreeable and advance both the project and CDG CARE’s mission. To learn more about the benefits that a partnership with CDG CARE can provide, we encourage families to visit the CDG CARE Homepage and review the Fiscal Sponsorship Program overview and projects that are underway.
*Press Release, April 2022 – CDG CARE awards $50,000 for ultra-rare CDG research!
CDG CARE is honored to announce that donor support has enabled us to fund a $50,000 research grant to the University of Georgia, Complex Carbohydrate Research Center! Through this innovative research project, Dr. Ryan Weiss and his team will establish novel drug screening assays to identify drug candidates for treatment of the CDG, Multiple Hereditary Exostoses (MHE), an inherited skeletal disorder that currently has no approved therapies.
*Press Release, April 2021 – CDG CARE Awards $50,000 Research Grant to Greenwood Genetic Center
CDG CARE has awarded a $50,000 grant to Dr. Heather Flanagan-Steet at the Greenwood Genetic Center to address translational research in CDG. Dr. Flanagan-Steet’s research interests are focused on understanding the molecular and cellular mechanisms driving the development of rare genetic disorders, particularly pediatric disorders like congenital disorders of glycosylation (CDG). The overall goal of her project, “Unraveling CDG complexity using systems approaches”, is to use a PMM2-CDG zebrafish model to identify and test novel therapies. She will evaluate the ability of the recently identified drug, Epalrestat, to reduce PMM2-CDG pathogenesis (development of the disease) and explore the compound’s mechanism of action. The information gained will help identify new therapeutic candidates for patients with PMM2-CDG that may be applicable to other CDGs. The work will be performed at JC Self Research Institute at the Greenwood Genetic Center, whose mission is to provide comprehensive care to patients with genetic disorders.
*Press Release, August 2020 – CDG CARE expands services and research initiatives to support NGLY1 community!
The NGLY1 Foundation | NGLY1.org is excited to announce our union with CDG CARE! CDG CARE is a 501(c)(3) nonprofit public charity that represents all Congenital Disorders of Glycosylation–of which N-glycanase deficiency (NGLY1) is considered a part. NGLY1.org has closely and successfully collaborated with CDG CARE for the past 6 years. There are currently 160+ different types of Congenital Disorders of Glycosylation (CDGs) with very few numbers of patients each. However, collectively the number of patients affected by CDGs is significant and growing. By folding NGLY1.org into the portfolio of CDGs stewarded by CDG CARE, we will be leveraging economies of scale in order to do more in terms of research, awareness and support for the NGLY1 community as well as the greater CDG community. We believe that we are STRONGER TOGETHER. Any future contributions for NGLY1 research and/or support should be made out to CDG CARE with a note in the memo to designate those funds for NGLY1. We are hopeful that this is another big step toward treatments and cures for all!
*Press Release, July 2020 – CDG CARE Funds $50,000 to Support Acetazolamide Clinical Trial in PMM2-CDG
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. Email CDG CARE at research@cdgcare.com for additional information and study location contacts.
*Press Release, Jan 2020 – CDG Care Awards $60,000 in Research Grants for PIGA-CDG Gene Therapy Development
CDG Care has awarded approximately $60,000 to the Abigail Wexner Research Institute (AWRI) at Nationwide Children’s Hospital in Columbus, Ohio and Osaka University in Japan for the development of a gene therapy program for the treatment of PIGA-CDG, also known as Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 2 (MCAHS2).
This grant builds upon the successful collaboration established in 2018 between PIGA-CDG families and Osaka University. Researchers from AWRI at Nationwide Children’s will develop and manufacture gene therapy vectors for testing in pre-clinical studies with the goal of developing a gene therapy to help treat PIGA-CDG.
The gene therapy vectors to be manufactured by Nationwide Children’s will be sent to Osaka University for testing in PIGA cell lines and mouse models to evaluate efficacy in treating PIGA-CDG. With the additional funding from this research grant, researchers from Osaka University will also generate and maintain PIGA knock-in mice that can be used for in-vivo testing of the PIGA-gene therapy vectors as well as other compounds being evaluated for treatment of PIGA-CDG.
To learn more about PIGA-CDG and the research and advancements being made in PIGA-CDG, please visit www.piga-cdg.com.
*Press Release, Dec 2018 – CDG CARE Awards $40,000 in Research Grants for PIGA-CDG Research
CDG CARE and researchers from Osaka University in Japan enter into a collaboration to lay the groundwork in advancing CDG research for effective supplements in the use of persons diagnosed with a PIGA-CDG mutation. This research will bridge the gap from identification/diagnosis to treatment and if tests prove successful, will mean the first step in identifying a potential treatment for PIGA patients, and other patients on the same enzymatic pathway.
The basis for this project will help determine if these supplements are effective and to what extent they improve the degree of GPI-anchor deficiency. This data will be critical in obtaining future FDA approval for a clinical trial. To learn more about the research and advancements being made in the area of PIGA-CDG, please visit www.piga-cdg.com.
Current Studies and Highlights:
Rare Commons Research Project and Patient Registry
NIH Clinical Research Study – Currently recruiting participants
Galactose Supplementation Study
CDG Lab at Sanford Burnham Prebys Medical Discovery Institute
Foundation Glycosylation Research
For more global research initiatives and updates, please visit apcdg.com.
Publications/Posters/Videos:
Learn about the Importance of Biomarkers in CDG & NGLY1 Research: Video
Expanding the Phenotype, Genotype and Biochemical Knowledge of ALG3-CDG
Epalrestat monotherapy in a Single Patient with Phosphomannomutase 2 Deficiency (PMM2-CDG)
Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG
ALG1-CDG: Clinical and Molecular Characteristics of 39 Unreported Patients
Congenital Disorders of N-linked Glycosylation Pathway Overview
Congenital Disorders of Glycosylation PMM2-CDG Gene Reviews
PMM2-CDG French Natural History Study
A Mouse Model of a Human Congenital Disorder of Glycosylation caused by loss of PMM2
PubMed is a searchable database of medical literature and lists journal articles that discuss and reference Congenital Disorders of Glycosylation. Click on the following link to access recent articles pertaining to CDG.
Technology Helping to Diagnose CDG
Published by Vanessa Ferreira on private Facebook Group for CDG Family Network (Source: Pubmed)
Genetics Home Reference, Congenital Disorders of Glycosylation Type 1a
Genetics Home Reference, ALG12 Congenital Disorder of Glycosylation
Diseases of Glycosylation Beyond Classical Congenital Disorders of Glycosylation
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype
Published by Vanessa Ferreira on private Facebook Group for CDG Family Network (Source: Pubmed)
Refining the Genomics of Rare Sugar Metabolism Disorders
Contact
We are always seeking to learn about and share additional global CDG research opportunities. If you have information on a CDG research study, please email us at info@cdgcare.org.