GM1 Census

Understanding Our Global Community

Census Impact By the Numbers

Current Global GM1 Community Registrants

165

Total registered patients

36

Countries represented

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What is the GM1 Census?

The GM1 Census is a comprehensive research study conducted by the Cure GM1 Foundation to collect information about patients and families affected by GM1 gangliosidosis worldwide. This study aims to examine patient population data, including subtypes, diagnostic journeys, and associations between genetic variants and clinical symptoms.

Who can participate?

  • English speakers who are 18 or older
  • Parents of a child with a diagnosis of GM1 gangliosidosis that was confirmed by a doctor or another healthcare professional
  • Legal guardians or authorized representatives of adults with GM1 gangliosidosis

Participants of all ages are eligible for this study, but the person completing the survey must be 18 or older.

Why is the GM1 Census Important?

The Cure GM1 Foundation’s mission is to fund research for the benefit of all those who suffer from GM1 gangliosidosis. This study directly helps advance research by:

  • Understanding Disease Patterns: Examining correlations between genetic variants (genotype) and clinical symptoms to better understand how GM1 affects different patients
  • Mapping the Diagnostic Journey: Learning about patients’ experiences getting diagnosed to help improve the process for future families
  • Identifying Common Symptoms: Collecting data about symptoms across the patient population to guide research priorities
  • Building Comprehensive Data: Creating an accessible database to share with the GM1 community and researchers 
  • Supporting the GM1 Community: Generating insights into the natural history of GM1 gangliosidosis; providing valuable information to researchers studying potential treatments; and building a stronger, more informed patient community

ENROLLMENT PROCESS

This study is IRB approved and all data is stored on a HIPAA compliant platform.  The enrollment process includes a detailed consent form.

Step by step process:

  1. First of all, set up a CRID, a clinical research ID for each registrant (see more info below)
  2. Locate and scan diagnostic genetics report
  3. Complete Online Form: Complete the consent form and online survey
  4. Upload Documents: Provide genetic test results while completing the survey
  5. Review and Submit: Verify your information before final submission
What is a CRID?

The Clinical Research ID (CRID) is a tool that gives you control of your own research participation. CRID enables patients to create their own Unique Universal ID for clinical research. GM1 families can actively contribute to the research community while maintaining privacy and control over how their data is used to advance our understanding of GM1 gangliosidosis.

How does it work?

  • You create a CRID for your child with GM1
  • You decide which GM1 researchers and studies to share it with
  • Researchers can securely access, merge, and share your research data across multiple GM1 studies
  • Your personal and health information remains protected while advancing GM1 research
Take the survey

Mail info@curegm1.org if you have questions.

Getting Started

  1. Review this information thoroughly and consider whether you want to participate
  2. Gather your information:
    • Your child’s genetic test results and diagnosis details
    • Information about symptoms, severity, and medical history
    • Details about your diagnostic journey and current care team
    • Any required authorization documents
  3. Generate your CRID at www.theCRID.org if you don’t already have one
  4. Complete the consent process and comprehensive survey when you’re ready

Essential Documents

  • Genetic Test Report: Confirmation of GM1 gangliosidosis diagnosis with specific variant information
  • Medical Records: Recent specialist reports, particularly from neurologists or geneticists
  • Guardian Documentation: If registering an adult patient, proof of legal guardianship or power of attorney

Helpful Information to Have Ready

  • Symptom Timeline: When symptoms first appeared and how they’ve progressed
  • Treatment History: List of medications, therapies, and their effectiveness
  • Healthcare Team: Names and specialties of doctors involved in care
  • Family History: Information about other affected or carrier family members
  1. Consent Process: Review and provide digital consent before beginning
  2. CRID Setup: Generate or provide your Clinical Research ID at www.theCRID.org
  3. Survey Completion: Complete the comprehensive online survey via REDCap covering:
    • Your child’s medical history and diagnosis details
    • Detailed symptom assessment and severity ratings
    • Your diagnostic journey and timeline
    • Current care team and previous research participation
    • Your priorities for future research focus
  4. Document Upload: Upload genetic reports and any required authorization documents

Remember:

  • Participation is completely voluntary
  • You can withdraw at any time
  • Your information helps advance research for the entire GM1 community
  • There are no costs associated with participation
Take the survey

What you need to know

Basic Information

  • Patient Demographics: Name, date of birth, sex, ethnicity, city and country of birth
  • Family Information: Information about siblings (age, sex, and whether they are affected)
  • Clinical Research ID (CRID): Your unique identifier for linking research data across studies

Medical History and Diagnosis

  • Pregnancy and Birth
  • Diagnosis Details
  • Diagnostic Testing
  • Genetic Information
  • Family Genetics

Symptoms and Severity of Each Symptom

Diagnostic Journey

Research Participation History

Optional Participation

  • Future Contact: Whether you’d like to be contacted by Cure GM1 to get more involved
  • Mailing List: Whether you’d like to be added to the Cure GM1 mailing list

Your privacy and data security are our highest priorities.

Data Security Measures

  • HIPAA and GDPR Compliant: All data is stored on platforms that meet strict Health Insurance Portability and Accountability Act (HIPAA) and General Data Protection Regulation (GDPR) standards
  • Encrypted Storage: Information is stored using secure, encrypted databases
  • Limited Access: Only authorized study researchers at Cure GM1 Foundation and select authorized users (such as the analytic team and institutional review board) have access to identifiable information
  • Secure Transfer: When data needs to be shared internationally, secure transfer methods are used with confidentiality requirements

How We Protect Your Identity

  • De-identified Sharing: When information is shared outside the study team, it is de-identified or pseudonymized to minimize the likelihood of determining participant identity
  • Minimum Necessary Information: We only collect personally identifiable information that is necessary for the study
  • Group Protection: When potentially re-identifiable data (such as genetic variant and country information) is published, we ensure it involves at least three individuals with similar characteristics to minimize re-identification risk

Your Rights and Control

  • Voluntary Participation: Participation is completely voluntary and you can withdraw at any time
  • Data Access: You can request to see your data and receive a copy of your survey responses
  • Withdrawal Options: You can withdraw your consent by emailing info@curegm1.org

Privacy Policy: Full details about data use are available in the Cure GM1 Privacy Policy

Research Applications

  • Symptom Analysis: Understanding common symptoms within the GM1 community
  • Natural History Studies: Learning how GM1 progresses over time in different patients
  • Genotype-Phenotype Correlations: Examining relationships between specific genetic variants and clinical characteristics
  • Healthcare Improvement: Identifying medical professionals and centers with GM1 experience for future family referrals

Data Sharing

The Cure GM1 Foundation may share de-identified information with:

  • The Food and Drug Administration (FDA) and other regulatory agencies
  • Governmental agencies in other countries
  • Outside laboratories and data storage companies working with researchers
  • Other research doctors and medical centers participating in related studies

CRID Benefits

  • Once you share your CRID with us, we may provide it to other researchers studying GM1 gangliosidosis, allowing them to:
  • Avoid duplicating data collection efforts
  • Link de-identified data across studies you choose to participate in
  • Build more comprehensive datasets for research

The primary risk is related to data privacy:

  • Data Breach Risk: Despite extensive safety measures, we cannot guarantee that your information will never become exposed, though this risk is very low
  • Cyber Security: There’s a possibility of unauthorized access or system breaches, though every precaution is taken to minimize this risk
  • Unforeseen Risks: There may be other privacy risks we haven’t anticipated

Important Insurance Considerations:

  • US Federal law does not protect against genetic discrimination by life insurance, disability insurance, or long-term care insurance companies
  • If you have a known genetic diagnosis, health insurers may use this information for eligibility or rate determinations

Study Oversight and Contact Information

Research Oversight: This study is overseen by North Star Review Board, an independent group that reviews research studies for safety and ethics.

Questions or Concerns:

  • Study Questions: Contact the research team through the Cure GM1 Foundation
  • Data Withdrawal: Email info@curegm1.org
  • IRB Questions: Contact North Star Review Board at info@northstarreviewboard.org

Important Notes

  • No Medical Advice: This study does not provide medical advice or replace consultation with your healthcare providers
  • No Contact with Clinicians: Your healthcare providers will not be contacted regarding your medical records
  • No Medical Record Integration: This information will never be incorporated into medical records
  • International Participation: This study recruits participants from countries around the world
  • Data Storage: Your data will be stored and accessed in the United States via US servers

Need Help?

Reach out to info@curegm1.org if you need assistance with:

  • Technical Issues: Help with online forms or document uploads
  • Questions: Understanding any part of the process