Cure GM1 presently has four initiatives to support natural history and sample collection for GM1.
Census, Natural History, Data Sharing and Biobank
In order to support drug development and research, Cure GM1 has multiple initiatives that support research and drug development. Families can participate in these efforts to ensure that GM1 is research-ready!
From the research perspective, these are very separate endeavors, both in design and deliverables, but their shared purpose is to gather and share data from many patients to inform research and advance the knowledge of GM1, so that ultimately those impacted by GM1 can receive better care.
These are critically important building blocks in the drug development process.
Every Family Matters in GM1 Research
Research is the foundation for finding treatments and a cure for GM1 — but it cannot happen without YOU.
With a disease as rare as GM1, every family who participates brings us one step closer to breakthroughs. Your story creates the roadmap scientists need to develop new therapies.
Why Your Participation Matters
Show We Exist
Help researchers and pharmaceutical companies understand the size of our community
Drive Progress
Your data and samples enable breakthrough discoveries and clinical trials
Privacy Protected
All data is anonymized and used solely to advance GM1 research
How You Can Participate
Join the GM1 Census
What it is: A comprehensive research study to collect information about patients and families affected by GM1 gangliosidosis worldwide.
Why it matters:
- Strengthens our voice and visibility
- Shows researchers and pharmaceutical companies the size of our community
- Helps attract funding and resources for GM1 research
- Connects families with clinical trials and new treatment opportunities
- Maps diagnostic journeys to improve the process for future families
How to participate:
- Set up a CRID (Clinical Research ID) for each registrant
- Locate and scan your diagnostic genetics report
- Complete the online consent form and survey
- Upload genetic test results
- Review and submit
Takes approximately 15-20 minutes. Quick and easy to navigate!
About the Study
The GM1 Census examines patient population data, including subtypes, diagnostic journeys, and associations between genetic variants and clinical symptoms. This IRB-approved study helps researchers understand disease patterns, identify common symptoms, and build comprehensive data to share with the GM1 community and researchers worldwide.
Who can participate:
- English speakers who are 18 or older
- Parents of a child with doctor-confirmed GM1 gangliosidosis
- Legal guardians or authorized representatives of adults with GM1
Participants of all ages are eligible, but the person completing the survey must be 18 or older.
Data Protection & Oversight:
- IRB approved and HIPAA compliant platform
- Overseen by North Star Review Board for safety and ethics
- International participation welcome
- Data stored securely via US servers
Need help? Contact info@curegm1.org for assistance with technical issues or questions.
Combined Brain Biorepository
What it is: Donate blood or urine samples that scientists use to study GM1 and test treatments.
Why it matters:
- Preserves valuable biological samples that scientists need to study GM1
- Helps researchers develop and test new treatments
- Enables breakthrough discoveries that wouldn’t otherwise be possible
- Provides hope for future generations
- Samples are available to researchers worldwide
What’s collected: Blood samples (processed for plasma and finger stick) and urine samples
How to participate – You can donate at:
- Roadshow events at conferences across the US
- Free home collection – a phlebotomist comes to your home!
- During medical procedures – coordinate with your doctor in advance
💰 Cost: Home collection is covered by Cure GM1. Roadshow collection is free (travel not covered). Medical procedure collection typically has no cost.
Participation is completely FREE!
About COMBINEDBrain
COMBINEDBrain is the Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders, a non-profit organization devoted to speeding the path to clinical treatments for people with rare genetic neurological disorders by pooling efforts, studies, and data.
How it works:
- Biospecimens can be contributed from home or at events
- Samples are stored in the COMBINEDBrain Biorepository
- Available for select biomarker projects and interested researchers
- Researchers may request access to samples for GM1 studies
- All samples are de-identified to protect privacy
For more information or questions about biorepository participation, email Roadshow@combinedbrain.org
Natural History Studies & Data Sharing
In addition to the Census and Biorepository, Cure GM1 supports multiple natural history initiatives to gather and share data from many patients to inform research and advance knowledge of GM1.
Why natural history studies matter:
- Support drug development and research readiness
- Establish meaningful clinical endpoints for treatment trials
- Create comparator control datasets for regulatory filings
- Increase knowledge and understanding of GM1 progression
- Reduce the need for duplicative studies, saving time and resources
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xCures Real-World Evidence Natural History – Pilot Study
xCures is a company that consolidates medical records from anywhere, normalizing and structuring them into a comprehensive, searchable dataset of all of a patient’s clinical data. This collaboration is led by Cure GM1 and is an IRB-approved study.
Key advantages:
- Electronic health records (EHR) can be collected with appropriate consent
- No in-person visits required
- Can collect both historical and current data
- Technology originally developed for oncology, adapted for rare diseases
Study listed on clinicaltrials.gov (NCT06539169)
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GM1 Natural History Data Sharing Initiative
The aim of this initiative is to build a forum for collaboration and aggregation of natural history data that will increase knowledge of GM1 and establish meaningful clinical endpoints and a comparator control dataset suitable for clinical treatment trials and regulatory filings.
The GM1 Natural History Data Sharing Collaborative includes:
- A global collaborative group and network of disease experts
- Organizations and individuals conducting natural history studies in GM1
- Partnership with the Critical Path Institute
- Universities with natural history data
This effort aims to reduce the need for new natural history studies and to reduce waste of resources and time by aggregating existing data.
Learn more: View our recent poster on this initiative
Note: These natural history initiatives are research-focused and managed through specific study protocols. For questions about participation in these studies, please contact info@curegm1.org
Your Participation Accelerates Progress
Together, we are building the evidence base that will attract researchers, secure funding, and accelerate clinical trials for GM1. Every family’s contribution matters.
Questions? Contact us at info@curegm1.org
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