Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC)
It is with great excitement that we share with our CDG Community patients, families, professionals and stakeholders that the National Institutes of Health has awarded a $5 million, 5-year grant for the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) Project! This project leverages cross-disciplinary, team-based clinical science to address decades of unresolved questions, increase clinical trial readiness, advance and share knowledge, develop treatments, and address current unmet patient needs.
The FCDGC establishes a nationwide network of 10 regional academic centers, the Sanford Burnham Prebys Medical Discovery Institute and the patient advocacy groups, CDG CARE and NGLY1.org who will work together to accomplish the following research goals:
1) To define the natural history of CDG, validate patient reported outcomes and share CDG knowledge;
2) Develop and validate new biochemical diagnostic techniques and therapeutic biomarkers to increase clinical trial readiness; and
3) Evaluate whether dietary treatments restore appropriate glycosylation to improve clinical symptoms and quality of life.
The Principal Investigator of the FCDGC Project is Eva Morava-Kozicz, M.D., Ph.D. Professor of Medical Genetics at the Mayo Clinic. The Mayo Clinic in Rochester, Minnesota will be the site with dedicated staff overseeing the Administrative Coordinator and Trial Coordinator positions. To learn more about this groundbreaking research advancement and to read the official press release, CLICK HERE.
CDG Connect Patient Insights Network (PIN)
CDG CARE is proud to partner with the Invitae Patient Insights Network (PIN) and Cerecor to offer the first international CDG Patient Registry – CDG Connect!
CDG Connect has been created to develop a comprehensive database of individuals with all types of Congenital Disorders of Glycosylation (CDG). It provides CDG patients and families with a secure and confidential platform to share critical information to understand the history and progression of CDG. Through your participation, and submission of key clinical information, you are helping to build a network that will make it easier for researchers to study CDG, for patients and families to learn about evolving therapies and treatment options, and for advocates to speak on behalf of the CDG community.
When you join a Patient Insights Network (PIN), you are empowered to share your medical data and experience with a global disease community. CDG Connect is much more than a traditional registry. It is a global platform that collects, curates, coordinates and delivers patient data to form an engaged patient community and contacts patients with updated survey questionnaires, all while protecting patient privacy through a de-identified data system that is needed for clinical study planning and execution. CDG Connect will serve as the centralized global network for CDG patients, researchers and drug developers to amplify the voice of CDG patients and optimize the search for better treatments.
Enroll in CDG Connect TODAY to share your experiences, access data and insights and advance research for CDG. Your participation may help us discover findings to improve patient lives. Together, we can build the CDG Connect Community!
*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 150 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:
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.com.
