• Understanding Family Research Priorities in Congenital Disorders of Glycosylation (CDG)

  • CDG Research Survey

    Please select an option to get started.

  • Estimated time to complete : 20 minutes
    Target audience: Parents or primary caregivers of individuals diagnosed with CDG

    Thank you for participating in this survey. We value your perspective as a parent or caregiver of someone with a confirmed diagnosis of CDG. Your input will help CDG CARE understand what matters most to families and guide patient-centered research efforts. This survey is voluntary and should take about 20 minutes. All responses will be kept confidential and used only to inform research priorities and improve support for rare disease communities.

    Instructions: Please answer the following questions as accurately as possible. There are several sections covering background information, your family's needs and challenges, research priorities, and experiences with research. Some questions will have multiple-choice options (select the option(s) that apply), while others may ask you to rate items or provide a short written answer. If a question does not apply or you prefer not to answer, you may skip it. Thank you for your time and insights.

  • Section 1: Participant Information

  • Q1. What is your relationship to the person with CDG?
  • Q3. How would you describe the severity of the condition?
  • Q7. If it took more than 1 year to receive a CDG diagnosis, what were the main reasons for the delay? (Select up to 3)
  • Q8. What country/region do you live in?

  • Section 2: Family Needs and Challenges

  • Q9. What are the biggest challenges or unmet needs your family faces due to CDG? (Select up to 5)
  • Q10. How often does your family member experience the following?
    Rows
  • Q11. Which symptoms or issues have the greatest impact on your family member's daily life? (Select up to 5)
  • Q14. If a treatment or therapy could improve only one thing for your family member, what would matter most? (Select up to 3)
  • Q16. What is the smallest change in your family member's condition that would feel meaningful to your family?

  • Section 3: Research Priorities

  • Q18. How familiar are you with current research efforts for CDGs?
  • Q19. In your opinion, how important is each of the following potential research areas for improving the lives of those with this CDG? (1 = Not at all important, 5 = Very important)
    Rows
  • Q21. ​​Please list the TOP 3 research priorities that you believe should be addressed in CDG research over the next 5–10 years
  • Q22. What do you see as the biggest barrier to research progress in CDGs? (Select up to 5)

  • Section 4: Research Participation and Engagement

  • Q23. Have you or your family member ever participated in any research study related to CDG?
  • Q24. What types of research have you (or your family member) participated in?
  • Q25. Would you consider participating in future CDG research studies as they become available?
  • Q26. In what ways would you be willing to engage in CDG research?
  • Q27. What factors, if any, make it difficult for you or your family to participate in CDG research? (Select up to 3)
  • Q28. What research design elements would make it easier for your family to participate in a study? (Select up to 5)
  • Q29. How important is it to you that patients and families have a voice in shaping the focus of CDG research (for example, helping to decide which issues are studied)?
  • Q30. How much do you trust the medical and scientific research process to work in the best interest of patients and families affected by CDG?
  • Q31. On a scale from 1 to 5, how much do you trust that patient-centered values (e.g., respect, transparency, inclusion, responsiveness) are considered and retained throughout the following? (1 = lowest, 5 = highest)
    Rows
  • Q32. What are the main reasons for your limited trust in the research process? (Select up to 3)
  • Q33. How would you prefer to receive information about research findings or new research opportunities for this rare disease?

  • Section 5: Additional Comments

  • Aligning Scientific Vision: Clinician and Researcher Perspectives on Priorities in CDG Research

  • Estimated time to complete: 15 minutes
    Target audience: Clinicians and Researchers (basic, translational, clinical, data science) working in rare diseases, including CDG

    Introduction:

    Thank you for participating in this international survey.

    This initiative aims to identify the highest priorities for future CDG research by integrating the perspectives of clinicians, researchers, patients, families, and other stakeholders.

    Your responses will help identify scientific priorities, clinical knowledge gaps, and opportunities to strengthen collaboration across the CDG community. Results will inform future research initiatives, standards of care development, funding priorities, and collaborative programs.

    The survey is anonymous and should take approximately 10-15 minutes to complete.

    Instructions:

    • This survey consists of several sections, including background information, research priorities, clinical knowledge gaps, collaboration, and open-ended questions.
    • Please answer all questions based on your professional experience and expertise.
    • Unless otherwise indicated, select the single response that best reflects your opinion. For questions allowing multiple selections or rankings, please follow the instructions provided.
    • For rating-scale questions, use the response options consistently according to the scale provided for each question.
    • Open-ended questions provide an opportunity to elaborate on your perspectives. Please provide as much detail as you consider relevant.
    • If a question falls outside your area of expertise or is not applicable to your work, please select "Not applicable" when available or leave the question unanswered.

    Privacy: Your participation is voluntary, and all responses will remain confidential. Survey responses will be analyzed and reported only in aggregate. No personally identifying information will be collected, and the results will be used solely to inform future research priority-setting and strategic planning initiatives.

  • Part 1: Background Information

  • Q1. What is your primary role or position?
  • Q2. How many years have you been involved in CDG research?
  • Q3. How familiar are you with the day-to-day challenges experienced by individuals and families living with CDG?
  • Q4. Do you have personal experience with a rare disease community? (Select all that apply)
  • Q5. Do you currently conduct research on Congenital Disorders of Glycosylation (CDG)?
  • Q7. Country of residence:

  • Part 2: Research Priorities in Congenital Disorders of Glycosylation

  • Q8. Based on your expertise and perspective, please rate the importance of each of the following research areas for advancing CDG research over the next 20 years. Scale: 1 = Not important, 2 = Slightly important, 3 = Moderately important, 4 = Very important, 5 = Extremely important.
    Rows
  • Q9. From the research areas listed above, please select the five that you believe should be the highest priorities for CDG research over the next decade. (Select up to 5)
  • Q10. Clinical Knowledge Gaps Across Organ Systems. For each organ system below, please rate how urgently additional evidence and clinical guidance are needed to improve the management of CDG manifestations. When considering your rating, think about current evidence and guidance related to: diagnosis, monitoring, treatment, prevention of complications, and long-term follow-up. Scale: 1 = Little or no important knowledge gap, 2 = Small knowledge gap, 3 = Moderate knowledge gap, 4 = Large knowledge gap, 5 = Critical knowledge gap requiring urgent research and clinical guidance, N/A = Outside my area of expertise / Not applicable
    Rows
  • Q11. Based on your assessment above, which three organ systems should be the highest priorities for future clinical research and the development of international Standards of Care? (Select up to three)

  • Part 3: Patient Engagement

  • Q15. To what extent do you agree with the following statements? Scale: 1 = Strongly disagree, 2 = Disagree, 3 = Neutral, 4 = Agree, 5 = Strongly agree
    Rows
  • Q16. How important is incorporating patient and family perspectives when establishing priorities for CDG research?
  • Q17. Have you collaborated with patient advocacy organizations or family caregivers as part of your research? (Select one)
  • Q18. What barriers, if any, have limited your ability to collaborate with patient advocacy organizations or family caregivers in research? (Select all that apply)

  • Part 4: Research Ecosystem

  • Q19. Patient-Centeredness Across the Research Ecosystem. How confident are you that patient and family perspectives, needs, and priorities are meaningfully incorporated within each of the following research settings? Please rate each setting based on your experience and perspective. Scale: 1 = Not at all confident, 2 = Slightly confident, 3 = Moderately confident, 4 = Very confident, 5 = Completely confident, N/A = Not familiar enough to assess
    Rows
  • Q21. Which study design features or participation options would most help reduce barriers and facilitate patient and family participation in CDG research? (Select all that apply)
  • Q22. Would you be interested in actively contributing to the development of a CDG research agenda in collaboration with patients and families, clinicians, researchers, and funders? (Select one)

  • Thank you for completing the survey! Your responses will help shape future research and initiatives that are more aligned with the needs of patients and families in the rare disease community. Please click submit below to complete the survey.

  • My Voice Matters: What I Think About Research

  • Estimated time to complete: 15 minutes
    Who can answer: Patients diagnosed with CDG (on their own or with help)

    This survey takes about 15 minutes.
    You can do it by yourself or with help from someone you trust.
    There are no right or wrong answers. Just tell us what matters to you.

  • About Me

  • 1. How old are you?
  • 2. Do you need help to fill out this survey?

  • What Matters to Me ❤️

  • 5. Which of these things are important to you?
  • 6. What are 3 top things you want research to help with? 🔍
  • 7. Over what time frame should these research priorities be addressed?

  • How I Want to Be Involved 🤝

  • 8. Have you ever been part of a research study? 🧑
  • 9. Would you like to help with research in the future?
  • 10. How would you like to help with research? ✨
  • 11. Do you think people with CDG are asked what is important in research? 🗣️

  • How You Feel 💭

  • 12. Do you feel that researchers understand you?
  • 13. Has research helped make your life better?
  • 14. How do you want researchers to learn from you?

  • Your Message to Researchers 💌

  • Thank you for completing the survey! Your responses will help shape future research and initiatives that are more aligned with the needs of patients and families in the rare disease community. Please click submit below to complete the survey.

  • Thank you for completing the survey. Please click Submit below to record your responses.

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