CDG Research Survey

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.

Other (please specify) :

Rows	Never	Rarely	Sometimes	Often	Always
Feeding/nutrition challenges
Sleep difficulties
Mobility limitations
Communication challenges
Medical care needs
Pain/discomfort

Rows	1	2	3	4	5
Improving early and accurate diagnosis: Developing better diagnostic tests and reducing the time to diagnosis.
Developing effective treatments or a cure: Research into new medications, therapies, or a cure for the disease.
Managing symptoms and improving quality of life: Research on therapies or interventions (medical or supportive) to reduce symptoms and improve daily functioning and well-being.
Understanding the disease’s causes and progression: Basic research to understand the genetic causes, disease mechanisms, and how the condition progresses over time.
Improving healthcare coordination: Finding best practices and developing protocols for coordinated care (e.g., between specialists, primary care, and services) to ensure comprehensive management of the disease.
Providing supportive services for patients and families: Developing better support programs (such as physical therapy, educational services, mental health counseling, or respite care for caregivers) through research and evaluation.

Please describe any additional important research topic(s), if any:

Other (please specify):

Other type of research (please specify):

Other (please specify):

Rows	1	2	3	4	5
1. The overall research process
2. Academic researchers or research institutions
3. Biotech and pharmaceutical companies
4. The Food and Drug Administration (FDA) or your country’s equivalent regulatory agency

Other (please specify):

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

Introduction: Thank you for taking part in this important survey.
This effort goes beyond scientific discovery - it’s about improving the lives of real people and families affected by rare diseases, including Congenital Disorders of Glycosylation (CDG). Your perspective as a physician or researcher is essential to identifying and prioritizing research areas that truly matter to the patient community.

By sharing your insights, you will help shape a research agenda that is not only scientifically rigorous but also aligned with the urgent needs of those living with these conditions.

The survey is anonymous and should take approximately 10–15 minutes. Please respond based on your professional experience and expertise.

Instructions:

There are multiple sections including background information, research priority rating, and open-ended questions for your insights.
For questions asking you to select one option, please choose the single best answer. For questions with a rating scale, use the provided scale definitions for consistency.
Open-ended questions allow you to elaborate on your perspectives; feel free to provide as much detail as you deem relevant.
If a question is not applicable to you (e.g., CDG-specific questions and you do not work on CDG), you may skip it as directed.

Privacy: All responses are confidential and will be analyzed in aggregate. No identifying information will be collected, and results will only be used for research priority-setting purposes.

Other (please specify):

Rows	1	2	3	4	5
Understanding basic disease mechanisms
Improving diagnostic methods and reducing delays
Developing new treatments and cures
Repurposing existing drugs
Managing symptoms and improving quality of life
Natural history studies
Enhancing care coordination and integrated care
Provider education and training
Patient/family involvement in research design
Data sharing and collaborative research networks
Research on long-term outcomes and aging with CDG
Development and validation of biomarkers for CDG
Developing biomarkers for clinical trial endpoints

Rows	1	2	3	4	5
Researchers effectively engage patients and families in priority-setting and study design.
Current research agendas reflect patient and family priorities.
Research funding is aligned with patient-identified priorities.
Research ethics processes support meaningful family involvement

Rows	1	2	3	4	5
Academic research institutions
Biotech/pharma companies
Overall research process
Regulatory agencies (e.g., FDA) Foundations or non-profit funders

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.

Yes — please write it here:

CDG Research Survey

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

Section 1: Participant Information

Section 2: Family Needs and Challenges

Section 3: Research Priorities

Section 4: Research Participation and Engagement

Section 5: Additional Comments

Aligning Scientific Vision: Researcher Perspectives on Priorities in CDG Research

Part 1: Background Information

Part 2: Research Priorities in Congenital Disorders of Glycosylation

Part 4: Collaboration and Engagement

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

About Me

What Matters to Me ❤️

How I Want to Be Involved 🤝

How You Feel 💭

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.