In this Issue
- 2020 - A Year in Review
- FCDGC Research Updates
- Global Corner & Updates - *NEW*
- 5th World Conference on CDG
- Rare Disease Day 2021
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The Challenges and Opportunities of 2020 |
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It seems like so long ago, but at this time last year, the CDG CARE Board was in the midst of planning the final stages of the 2020 SBP Rare Disease Day Symposium and 3rd Biennial CDG Scientific & Family Conference! In collaboration with the Sanford Burnham Prebys Medical Discovery Institute, we hosted 52 CDG families and 116 medical professionals and scientists from around the globe in San Diego, CA. We were honored to be able to provide $7,000 in travel scholarship opportunities for families and professionals to attend this unique and educational 2.5-day event.
However, as our CDG families and professionals returned home on March 2nd, world events spiraled quickly into the unexpected upheaval of 2020. California declared a state of emergency on March 4th. With growing global concern over the health and safety of our CDG Community, the FCDGC came together quickly and on March 9th issued the first COVID-19 Health Advisory message to our CDG families. And by March 11, 2020, the World Health Organization declared COVID-19 a global pandemic, present in over 110 countries and territories with significant risk of further global spread.
Like most nonprofits and rare disease patient advocacy groups, CDG CARE experienced a shift in operations, communication strategies, programs, and overall scrambling for sustainability as a result of the COVID-19 crises. Pandemic restrictions put an immediate halt on post-conference activities, and all community planning and awareness events which were set to occur in May. However, two distinctive traits of CDG CARE’s mission helped us outlast this operational upheaval and provide a window of opportunity for the future: HOPE and COMMITMENT.
And because CDG CARE’s board members have a high level of commitment to our mission, and the collaboration among CDG patient associations strengthened, we were able TOGETHER, to accomplish each of the following successes:
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Ensured our patient community was informed on the latest recommendations regarding COVID-19. Visit the CDG CARE Homepage to access past COVID-19 recommendations, and/or CLICK HERE to read the most recent FCDGC Guidance for Adult CDG Patients Receiving the COVID-19 Vaccine.
- Launched the CDG Family Mask Project and quickly raised funds, and identified volunteers, to create and distribute 323 masks to 73 CDG families in 9 countries.
- Reached 4,000 people through May 16, 2020 World CDG Awareness Day messages and raised over $12,000 through donations and virtual events to support our cause.
- Provided support through resources for families and caregivers as special education was significantly altered for children across the nation, and as the healthcare system transitioned to telemedicine and telehealth as primary venues of care.
- Streamlined operations and contracting, and absorbed services previously provided by the NGLY1 Foundation into CDG CARE’s portfolio of programs.
- Extended GPI Anchor Disorder for PIGA Gene Therapy contracts as researchers were faced with challenges due to COVID-19 restrictions and delays.
- Funded the PMM2-CDG Acetazolamide Clinical Trial to enroll patients at three clinical research centers in the USA.
- Entered into research contracts with NCATS/NIH and Travere Therapeutics to extend NGLY1 research efforts to continue large-scale biochemical screening of therapies for NGLY1 deficiency with the ultimate goal of delivering a treatment option for the NGLY1 community.
- Focused on the 2020 Global Giving Tuesday Campaign as our primary fundraising efforts and raised $34,000 to directly advance research efforts into 2021.
- Expanded Board membership and welcomed three new members to diversify volunteer skillsets and broaden participation and focus into policy, programming and research.
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Received a grant to expand CDG CARE’s patient medical travel grant program. To access the updated application form and submit a request for financial support, CLICK HERE.
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Received a grant to develop and launch a new patient education webinar series. SAVE THE DATE for our first interactive LIVE webinar event on Wednesday, April 21, 2021. Agenda and registration details that will be released very soon!
As we close one of the most challenging years in history, we find hope in that we have been able to adapt, overcome, and respond to the needs of our community in a collaborative way to meet the unique challenges of our CDG and NGLY1 families. CDG CARE is incredibly grateful for the kindness, generosity, and volunteerism that we have experienced over the past year. Our Heroes come in many forms. We know that we are stronger together, and will continue to remain hopeful that there is light at the end of the tunnel and the partnerships that have evolved will remain constant, consistent and continuous to serve the needs of our community through 2021 and beyond.
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By Eva Morava-Kozicz, MD, PhD
Pilot and Feasibility Projects
FCDGC has announced a call for new research funding applications through the Pilot and Feasibility core.
Educational Announcements
The Career Enhancement Core has announced a call for new applications for the Career Development Award fund.
Dr. Eva Morava-Kozicz (Mayo Clinic) gave a talk in December at Baylor (virtually) for their Molecular and Human Genetics Seminar Series. Her talk was titled “Update on Congenital Disorder of Glycosylation; focus on therapy”.
Dr. Christina Lam (Seattle Children’s Hospital) gave a talk to the family group sponsored by the Amour Fund about the Acetazolamide Clinical Trial in October. Her talk was titled “Acetazolamide for Ataxia in PMM2-CDG”.
Acetazolamide Clinical Trial
FCDGC is starting a clinical trial supported by CDG CARE. Enrollment is likely to begin in January. Enrollment will be open to individuals with a diagnosis of PMM2-CDG, 4 years and older. The trial will be performed at Seattle Children’s Hospital (Dr. Irene Chang and Dr. Christina Lam), Children’s Hospital of Philadelphia (Dr. Andrew Edmondson), and Mayo Clinic (Dr. Eva Morava-Kozicz). More information can be found on www.clinicaltrials.gov.
Biomarker Discovery
A new paper has been published by the team titled “Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation”. The paper can be found online https://pubmed.ncbi.nlm.nih.gov/33129689/
New Guidelines
Natural History Core
The natural history research study is still underway. Over 70 patients have been enrolled into this study and enrollment has opened at multiple sites across the country. If you would be interested in learning more, please contact one of the clinical sites, found here: https://www.rarediseasesnetwork.org/fcdgc/sites
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FCDGC Natural History Study Already Improving CDG Care: Liver Implications |
By Andrew Edmondson, MD, PhD
We are excited to report that the FCDGC Natural History study has already begun to positively affect the care of CDG patients. During the first year of the Natural History study, 39 patients with 16 different CDG types (PMM2-CDG, ALG12-CDG, ALG13-CDG, DHDDS-CDG, PGM1-CDG, SLC35A2-CDG, ALG6-CDG, ALG8-CDG, CCDC115-CDG, DOST-CDG, MPI-CDG, SLC10A7-CDG, SLC35C1-CDG, SLC39A8-CDG, TMEM165-CDG, and VMA21-CDG) were carefully studied with regard to liver function. Most CDG type I patients will have significant improvements in liver function around 5 years of age, but some may go on to develop liver scarring, necessitating additional monitoring. The Natural History study determined that the liver dysfunction in CDG is isolated to a specific liver cell type that needs to be monitored by blood tests and ultrasound imaging. FCDGC was also able to determine that different types of liver imaging studies (ultrasound and elastography) provide unique information about the liver dysfunction and so both are needed for adequate liver monitoring.
Based on findings in the first year of the Natural History study, FCDGC recommends that all CDG patients have at least yearly comprehensive screening for liver disease, including physical exam, lab work, and imaging with ultrasound and elastrography. These recommendations are available in a new publication that can be shared with the CDG patient’s physician: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7788939/
The FCDGC Natural History study has recently expanded to an additional 8 sites nationwide. We want to thank all of the families who are currently participating in this nationwide study. We anticipate that the coming years will provide us with many additional important insights that will improve the care of all CDG patients.
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By Vijay Sappani
CDG Canada is a Canada-wide charity for raising awareness about CDGs and raising funds to further research into CDGs. We recently launched our website: https://canadacdg.com. Please take a look at the site when you can and provide any and all feedback. Our email is [email protected]. In addition to now having a place to find the latest information on research, resources and news in Canada, we encourage our CDG families throughout Canada to Like and Follow our CDG Canada Facebook Page as well!
We are looking for volunteers to post photos of our children and our families, and also to share our stories on the website and in the newsletter. Thank you to those who have shared so far. Our first newsletter went out to a few families and medical practitioners in December. We hope to continue our outreach to families and medical practitioners in the coming months.
CURE SRD5A3
https://curesrd5a3.com/ The website has a repository of papers related to SRD5A3, list of symptoms, a roadmap, and resources for families as well as practitioners. The website also has a link to a patient group for families affected by SRD5A3.
Many thanks and we are hopeful that you remain well heading into the new year!
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New International Research Study |
CDG & Allies PPAIN and collaborators, are excited to announce the upcoming launch of a new international research study: the CDG Patient Journey Mapping, a way to better understand families experiences and to improve the care of CDG patients.
The goal of this study is to better understand the patient and family members' journey during the time before diagnosis through a lifetime of ongoing management of the disease. If you are affected by CDG or caring/cared for someone affected by CDG, you have a say in the future of CDG!
This study is composed of two online surveys:
Survey 1: Prioritizing Symptoms Impacting Quality of Life for CDG from families and caregiver’s views. In this study we will determine the presence, frequency, and severity of CDG symptoms/signs and their impact on patients’ Quality of Life (QoL). We will evaluate as well which are the most important symptoms and signs to be treated according to people living with CDG and their family members. Moreover, this study will (1) collect the current disease management strategies, health services used by CDG and (2) assess the impact CDG symptoms and signs on the caregiver’s activities/tasks. Completing the survey will take no more than 45 minutes to 1 hour to complete.
This survey will become available on February 18, 2021 and we will be collecting survey responses through March 11, 2021.
This survey will enable us to characterize the diagnostic, clinical, care, management and therapeutic journey of CDG and will give us the possibility to communicate facts and figures to decision-makers, so that CDG needs are taken into account when shaping healthcare services.
Survey 2: Capturing the full picture of the CDG patient journey from different perspectives. This survey has the specific goals: (1) to describe the experiences during the quest for CDG diagnosis, and identifying needs related to CDG information at the time of diagnosis and afterwards, (2) assess the care needs of people living with CDG and their family members, and (3) measure the burden/cost associated with CDG. Completing the survey will take no more than 45 minutes to 1 hour to complete.
Survey 2 will become available on March 22, 2021 and we will be collecting survey responses through April 15, 2021.
The goal is to voice the specific needs of people living with CDG and their family members, within the next years and to propose practical solutions to improve their daily life. Through asking questions on CDG needs regarding early diagnosis, medical care, access to care and treatments, information sources used and hidden cost associated, we will be able to better understand how to shape the future of CDG disease pathway, from initial referral through diagnostics to first definitive treatment, to get a greater understanding of the efficiency of care delivery and where opportunities exist for improvement or, in the case CDG management, any points that require further clarity or additional interventions.
This study is led by CDG & Allies PPAIN in collaboration with worldwide CDG patient groups, families and professionals. We would like to particularly thank Pf Dr Eva Morava (USA), Dr Mercedes Serrano (Spain), Andrea Miller (CDG CARE), Claudia Graetsch-Vasquez (USA), Pf Dr Jaak Jaeken, Sandra Pereira Pinto (CDG Spain & Portugal), Tatiana Rijoff (Switzerland and Italy), Rosália Félix (Portugal), Julia Boonak (CDG UK), Joana Peixinho (Portugal), Louise Rimen (Denmark) and Mónica Valadao (Portugal).
Please get involved and share your experiences so we can drive change and improve families experiences when navigating healthcare.
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5th World Conference on CDG |
The agenda for the 5th World Conference on CDG for families and professionals will soon be available!
Conference Theme: “#StandUnited4CDG Patient Centric approach that drives CDG therapeutic development: Impossible, Is Possible!”
When: May 13-16, 2021.
How: This edition, will be a hybrid event, due to the COVID-19 pandemic. The sessions are held on - line and as initially planned, in-person (you can join us on-site) at Faculty of Sciences and Technology of Nova University of Lisbon (FCT-UNL) at Monte da Caparica, Portugal. This is however, dependent on the current state of the COVID situation. We strongly encourage taking into account that there may be travel restrictions when booking flights and accommodations.
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Join us in celebration of Rare Disease Day on this February 28, 2021! Included in collaborating our CDG Community efforts, please join our Campaign as we encourage worldwide CDG families to continue helping us build the #CDGMosaic that will be unraveled on May 16, 2021, during the World CDG Awareness day celebrations!
The #CDGMosaic is an important piece of art that aims at honoring our CDG children and adults. It reminds us that we are united together in making a profound difference in the lives of people living with CDG.
Additionally, we will be continuing our efforts to collect signatures for our Online Petition aimed at supporting the declaration by the World Health Organization (WHO) to proclaim May 16th, as the official World Congenital Disorders of Glycosylation (CDG) Awareness Day around the globe. More information HERE.
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