Are you ready to be part of a powerful movement dedicated to supporting CDG families and advancing research?

Since 2022, the CDG CARE Family Support Network has connected families worldwide, providing a platform for advocacy, education, and collaboration.

With the CDG community growing rapidly, now is the time to unite our voices and make an even greater impact. By joining our interactive advocacy platform, you help ensure that the needs of CDG families are heard by medical professionals, researchers, regulatory agencies, and industry leaders.

Together, we are driving change and advocating for patient-focused treatments.

And now, thanks to CDG CARE’s recent grant award from the Chan Zuckerberg Initiative (CZI) Rare As One program, we are taking our Family Support Network to the next level! This transformational funding will energize our efforts by providing new patient opportunities, including:

✅ Educational webinars to expand knowledge and awareness

✅ Community meetups to strengthen connections

✅ Patient engagement surveys to amplify YOUR voice in research and advocacy

✅ Essential updates on resources, research, and events for all CDG types and families

Beyond building community, our network is a catalyst for change. Through outreach, surveys, and data collection, we are paving the way for groundbreaking research and expanded access to resources. The GLOBAL CDG MAP alone has now been accessed an incredible 48,935 times, proving how critical our collective efforts are in raising awareness and supporting families.

We are grateful to the 492 families who have already joined. Your participation is making a real difference! If you haven’t signed up yet, now is the perfect time—be part of this exciting journey and help shape the future for all CDG families.

📢 Join us today! Click HERE to register and add your voice to the movement.

Together, we are stronger!

GlycoCAST is currently busy scheduling guests for 2025 and we would love your

input!

In the meantime, check out Episode 8, “Returning to the Mic After Baby

#2,” where co-hosts Karen Morici and Dr. Ivan Martinez chat with CDG mom,

Brett Helsham, about balancing life with a new baby and a medically complex

child, plus get valuable insights from the inspiring Dr. Al Freedman.

You can find the episode on all major podcast platforms and Clicking HERE. Be sure to follow us on Instagram @GlycoCAST for episode updates.

If you have topic suggestions, would like to be a guest, or introduce any other relevant stakeholders, please feel free to reach out to Karen at KMorici@cdgcare.org.

Objective

To establish a global ecosystem that unifies and accelerates research, biomarker discovery, and therapy development for congenital disorders of glycosylation (CDG). This initiative should address the challenges posed by the complexity and variability of CDG through data sharing, standardization, patient involvement, and advanced analytical tools, including artificial intelligence (AI).

The Role of Artificial Intelligence in CDG Research

Artificial intelligence (AI) has the potential to revolutionize CDG research by transforming how data is analyzed and used. Given the rarity and complexity of CDG, AI can process vast datasets to uncover patterns and insights that might elude traditional methods. Specific applications of AI in this ecosystem include:

1. Biomarker Discovery and Validation - AI-powered algorithms can analyze multi-omics data (e.g., genomics, glycomics, glycoproteomics, proteomics, and metabolomics) to identify biomarkers associated with early diagnosis, disease progression, and treatment responses. By integrating diverse datasets, AI can highlight connections between pathogenic variants and clinical phenotypes, facilitating the development of targeted interventions.
2. Drug Repurposing and Novel Therapeutic Identification - AI can analyze chemical libraries and existing drug data to identify compounds that could be repurposed for CDG. Machine learning models can predict how specific compounds interact with disease pathways, accelerating the identification of promising therapies while reducing the costs and time associated with traditional drug development.
3. Precision Medicine - AI can stratify patients based on genetic, molecular, and clinical data, enabling the development of tailored treatment strategies. This approach ensures therapies are more effective for individual patients or specific CDG types, improving outcomes and minimizing side effects.
4. Clinical Trial Optimization - AI can assist in designing and managing clinical trials by predicting patient responses to treatments, identifying optimal trial participants, and monitoring trial progress. These capabilities can increase trial efficiency, reduce costs, and improve the likelihood of success.
5. Real-World Data Analysis - AI can analyze patient-reported outcomes, electronic health records, and other real-world data to provide insights into disease progression, treatment impact, and quality of life. This information is crucial for developing therapies that align with patient needs and experiences.

The Importance of Patients with Life Experience

1.    Individuals living with CDG, and their caregivers must be integral to the ecosystem. Their lived experiences provide invaluable insights into the day-to-day realities of the disease, its impact on quality of life, and the effectiveness of treatments. This perspective is essential for shaping research priorities and designing clinical trials that are patient-centered and outcome-focused.



2.    Patient-informed clinical outcome assessments should be developed to ensure treatments address the challenges that matter most to those affected by CDG. Real-world data contributed by patients and their caregivers can enrich the understanding of disease variability, progression, and response to interventions. CDG CARE and global CDG advocacy groups should also be invited to participate in working groups and advisory panels, ensuring their voices guide the direction of research and policy. By recognizing patients as partners rather than subjects, the initiative can foster trust, engagement, and a shared commitment to finding effective solutions.

Collaborative Research Networks

Global collaboration between academic institutions, pharmaceutical companies, and biotechnology firms is essential to address the multifaceted challenges of CDG. Networks should encourage cross-disciplinary projects and leverage AI-driven insights to advance understanding of disease mechanisms, biomarkers, and therapeutic targets. Diverse populations must be included to capture the full spectrum of CDG presentations and responses.

Advocacy and Awareness

Advocacy organizations should play a critical role in raising awareness, mobilizing support, and recruiting participants for research. They need to disseminate findings, engage stakeholders, and advocate for policies that prioritize CDG research funding. Educational campaigns should target healthcare providers and the public, emphasizing the importance of early diagnosis, patient involvement, and technological advancements.

Funding and Sustainability

Securing funding from government grants, philanthropic donations, and industry sponsorships is critical. A transparent governance framework must be established to manage resources and maintain stakeholder trust. Long-term financial planning should ensure the ecosystem’s sustainability and ability to adapt to new challenges and opportunities.

Balancing Privacy and Data Sharing in CDG

Protecting an individual’s privacy in ultra-rare disease research requires strict de-identification, excluding sensitive data like ethnicity, country of origin, exact age, and sex unless essential. Age categories, pseudonymized identifiers, aggregated data, and secure platforms help minimize re-identification risks while enabling global data sharing. Regular privacy reviews and synthetic datasets further enhance confidentiality. Collaboration with patient advocacy groups ensures data-sharing practices align with patient priorities, fostering trust, transparency, and participation while advancing treatment development responsibly. A central, open-access CDG Data Portal should be created to aggregate all clinical, genetic, molecular, and biochemical data from global research efforts. Comprehensive datasets must be made available for analysis and comparison, enabling robust insights that inform research and therapeutic strategies. To enhance collaboration, standardized protocols for data collection, storage, and sharing should be implemented, ensuring compatibility and reproducibility across studies.

Expected Outcomes

The ecosystem should deliver transformative outcomes, including a unified global dataset, novel biomarkers, and AI-driven insights into disease pathobiology that accelerate therapeutic development. By combining patient engagement, innovative technologies, and collaborative networks, the initiative aims to create tailored therapies that significantly improve patient outcomes and quality of life.

Vision

Through collaboration, inclusivity, and the integration of advanced technologies delivering multimodal data, this ecosystem has the potential to redefine CDG research. By uniting patients, researchers, and industry leaders, the initiative seeks to overcome the complexities of CDG and move closer to a future where effective treatments and personalized care are accessible to all affected individuals.

Glycomine, Inc. (San Mateo, California), the developer of GLM101, an investigational mannose-1-phosphate replacement therapy, has provided an update on their clinical program in patients with PMM2-CDG.

Based on the positive preliminary findings generated in their ongoing GLM101-002 Phase 2 clinical study, Glycomine will be proceeding into a multi-center Phase 2b study in 2025. The planned Phase 2b study is expected to include sites in the US, Europe, and UK in patients 4 years and older, with a goal to confirm the findings of the ongoing Phase 2 study GLM101-002.

The GLM101-002 Phase 2 clinical study has enrolled 10 adult,5 adolescent and 4 pediatric patients with PMM2-CDG in the U.S. and Spain (ClinicalTrials.gov Identifier: NCT05549219). According to Glycomine, GLM101 appears to be well tolerated with no serious adverse events, and only mild to moderate adverse events reported to date. The primary endpoint in the study is the International Cooperative Rating Scale (ICARS) an ataxia assessment, for which promising preliminary results are reported, supporting the continued clinical development of GLM101 through the Phase 2b study. 

For more information, visit www.glycomine.com or contact info@glycomine.com