Vol. XVII - July 2022 | Email Us | CDGCARE.org
In this Issue
  • Patient Driven CDG Research Initiatives
  • Call for Families to Boost Growth Chart Survey Data Collection
  • Patient Spotlight
  • News from the FCDGC
  • Partner Updates - CDG Hub & Glycomine, Inc.
  • Recent Research Advancements and Publications
Patients and Communities
Driving CDG Research!
Patient Driven CDG Research Initiatives Underway
As part of CDG CARE’s effort to advance and diversify patient-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.

Over the past few months, we are delighted to share that research programs have been launched in several areas including PIGA-CDG, PIGS-CDG, PIGN-CDG, GMPPA-CDG and ALG8-CDG! Through these partnerships with families, we have raised over $190,000 in just a few weeks' time! To learn more about the benefits that a partnership with CDG CARE can provide, we encourage families to review our new Fiscal Sponsorship Program by Clicking HERE.

To learn more about the projects that are currently underway, and launching in the coming weeks, simply click on the links below:

GMPPA-CDG Research Initiative Page - Coming Soon!

ALG8-CDG Zebrafish Model and Drug Repurposing Page - Coming Soon!
Got 15 minutes? Help Advance CDG
Research and Earn Rewards!
Earn your reward for participating in this important research project!

The CDG/NGLY1 Growth Chart Survey is a research collaboration between CDG CARE, FCDGC Researchers and the CDC.

This project and YOUR time are so important to advancing CDG research and developing measurable data markers for growth and future treatments, that we have a generous sponsor who is offering an incentive to all families who participate in this survey by July 31st!

We need EVERY CDG & NGLY1 family's help in retrospectively collecting the height and weight data of your children and young adults in order to create and publish CDG specific growth charts for our community!

To learn more, enter your data, and EARN CASH, simply click on the following link: https://cdgcare.org/growth-chart-survey/

*All data submitted will be confidentially stored with CDG CARE. Each data entry will be assigned a randomized patient ID# to serve as the only identifying patient information submitted to the research teams.
Patient Spotlight: CDG Families Share Their
Stories Navigating Life with CDG
Sharing their journey, raising awareness, and supporting research to bring hope to rare disease families and those yet to be diagnosed!

We thank Heather Franklin and Bobbie List for participating in this month's RDCRN Patient Spotlight series!

To read about the experiences of two of our PMM2-CDG families and how they have participated in research to advance treatments and therapies for the CDG Community, Click HERE
News from the FCDGC
**Follow FCDGC on Twitter @FrontierCDG**

Natural History Research Study
The natural history research study is still underway. Over 250 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.

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

The FCDGC Natural History study has recently expanded internationally. We want to thank all of the families who are currently participating in this international study. We anticipate that the coming years will provide us with many additional important insights that will improve the care of all CDG patients. If you are interested in joining, see the FCDGC website for contact details of the study site nearest you: https://www.rarediseasesnetwork.org/fcdgc/sites.

New Collaborations
Rady’s Children’s Hospital – Dr. Kristin Wigby – Dr. Wigby will become a new FCDGC natural history study investigator. Welcome to the team! 
Investigator Spotlight
Kent Lai, PhD develops gene-based therapeutics for CDGs and share the story behind his inspiration, research interests, and collaboration within the FCDGC! His interview can be found here: Senior Researcher Spotlight: Kent Lai Develops Gene-Based Therapeutics for Congenital Disorders of Glycosylation | Rare Diseases Clinical Research Network (rarediseasesnetwork.org)
Steven Sloan, MD, PhD was selected to be interviewed by the Rare Disease Clinical Research Network for their Early-Stage Investigator Spotlight series. Dr. Sloan was one of the 2021 Pilot and Feasibility Grant Award winners for his work in glial development in CDG and other neurodevelopmental and neuropsychiatric diseases. His interview can be found here: https://www.rarediseasesnetwork.org/news/2022-06-14-FCDGC-Investigator-Spotlight 

CDG or not CDG: A new letter to the editor was published which explores a consensus on which genetic conditions should be identified as congenital disorders of glycosylation. https://doi.org/10.1002/jimd.12498

A rare cause of infantile achalasia: GMPPA-congenital disorder of glycosylation with two novel compound heterozygous variants: In this study, researchers describe a 9-month-old female with achalasia and alacrima (reduced or absent ability to produce tears). The patient was found to have two novel compound heterozygous variants in the GMPPA gene that are associated with GMPPA-CDG. Authors provide a brief review of GMPPA-CDG, including management of this condition. https://doi.org/10.1002/ajmg.a.62859 

Patient-reported outcomes and quality of life in PMM2-CDG: This publication evaluates the patient-reported outcomes (PROs) and their correlation between clinical disease severity scoring and reported quality of life in a subset of PMM2-CDG patients. Authors recommend PROMIS as a tool to determine disease burden in PMM2-CDG patients as well as other traditional CDG disease severity scores. https://doi.org/10.1016/j.ymgme.2022.04.002 

Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy: Insights from two new families and review of the literature: Authors evaluate a patient with SLC35C1-CDG (or LADII) who demonstrates improvement in speech and cognition, CD15 expression, and core fucosylation or serum glycoproteins after 27 months of oral fucose supplementation. https://doi.org/10.1002/ajmg.a.62737  

Nutrition interventions in congenital disorders of glycosylation: This publication describes the different dietary approaches currently known to aid patients with certain types of CDG. It also explores the need for combining nutritional and medical approaches for each individual CDG patient. https://doi.org/10.1016/j.molmed.2022.04.003 

ALG8-CDG: molecular and phenotypic expansion suggests clinical management guidelines: Researchers identify 26 total individuals with ALG8-CDG and expand the clinical features in organ systems and the phenotype of ALG8-CDG. https://doi.org/10.1002/jimd.12527 

Acetazolamide Clinical Trial
FCDGC/CDG CARE’s Acetazolamide Clinical Trial is well underway with enrollment. Currently there are 24 patients enrolled to 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 with a target start date in September 2022. Preparations are underway and more information will be coming soon about how to get involved. 

Other News
FCDGC has awarded the 2022 Pilot and Feasibility Grant Award to Bijna Balakrishnan, PhD. Dr. Balakrishnan is a Research Scientist at the University of Utah in Dr. Kent Lai’s laboratory and will use patient-derived tissue-specific cell models to study PGM1-CDG to bring new translational benefits for patients with the disorder. Congratulations Dr. Balakrishnan!
CDG Hub - a knowledge base for
the global CDG community

Recently the Sappani Foundation and Cure SRD5A3 launched CDG Hub!

CDG Hub (www.cdghub.com) is the first online knowledge base of congenital disorders of glycosylation and is designed to educate researchers, clinicians, patients and families on CDG. The goal of CDG Hub is to help unite the global CDG community, increase public awareness and inspire collaborative research to advance scientific discoveries on all CDG/CDDG types.
CDG Hub is your one-stop-shop for all things CDG!

  • Learn about the 170+ CDG/CDDG types through dedicated educational summary pages –30 CDG pages are now published with new ones being added monthly!

  • Discover a global database of expert CDG clinicians, medical centers and researchers

  • Explore educational pages developed specifically for patients and families on the basics of CDG, FAQs, terms to know, and curated resources

  • Discover ongoing and upcoming CDG clinical trials

  • Find upcoming community events and stay up to date on newly published research 

  • Learn CDG and glycobiology terminology through the integrated website glossary
Don’t forget to sign up for the monthly newsletter to stay up to date on new CDG pages added to the website, upcoming community events, recent scientific discoveries on CDG and more! You can also follow us on Twitter.

If you are a researcher or clinician with expertise in CDG and would like to be added to global CDG Hub database, please contact us via the Contact Page.
Webinar Opportunity!

Attention CDG Families!! We are excited to announce that Glycomine has just finished Phase 1 of their clinical trial and CDG CARE will be hosting a webinar highlighting what they've learned and important details as they go into Phase 2 and start enrolling CDG patients.
While this next phase is for adult PMM2-CDG patients that are >18 years old, ALL patients, parents, caregivers and professionals are welcome and encouraged to attend this meeting. International participants are also welcome.

During this session, participants will also have the opportunity to ask questions and find out what steps they can take to enroll in this important research study.

WHEN? Thursday, July 28

Please register in advance for this meeting here: https://bit.ly/GlycoRegister

After registering, you will receive a confirmation email containing information about joining the meeting.
FCDGC Natural History Study
Provides Update on ALG8-CDG
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.

The publication suggests a comprehensive evaluation and monitoring strategy to improve the medical care of ALG8-CDG individuals. The full study can be found here: https://pubmed.ncbi.nlm.nih.gov/35716054/
FCDGC Natural History Seeks More
Information on COVID19 and CDG
Since the start of the COVID19 pandemic, there has been much uncertainty around severity of infection in CDG individuals, efficacy of vaccines, and how to ensure CDG individuals thrive despite the challenges of the pandemic. FCDGC has tried to keep families updated on the latest with webinars (see here: https://youtu.be/Rj4mNNBwoAs).

Now FCDGC is leveraging the Natural History study to learn more about COVID19 and CDG. For current Natural History study participants, watch for an email invitation to fill out a short (<15 minutes) survey regarding COVID19 and CDG, including information regarding vaccination against COVID19, infection with COVID19, and other impacts of COVID19 unrelated to infection.

We will plan to share information from this survey with the CDG community in the near future and rely on your participation.
FCDGC Releases New Report on Fucose Treatment for SLC35C1-CDG
Patients with SLC35C1-CDG (also known as Leukocyte Adhesion Deficiency type II or LAD II) have challenges with growth, development, low white blood cells resulting in recurrent infections and an abnormal blood type due to their loss of glycosylation. Dietary supplementation with fucose sugar therapy benefits some SLC35C1-CDG patients.

A new study from FCDGC identified three new patients from two families with mild SLC35C1-CDG and treated them with fucose supplementation. After 27 months on fucose, one patient showed improvements in speech and cognition, glycosylation, and glycosylated protein on blood cells.

The full report can be found here: https://pubmed.ncbi.nlm.nih.gov/35338746/