What are outcomes?

• Outcomes are used to determine if a treatment is effective or not.
• Outcomes may include how someone feels, what they can do, observable symptoms, or results of lab tests.

What is a Core Outcome Set (COS) and why is a COS used?

• A ‘Core Outcome Set’ is a small set of outcomes that are established as important and should be collected in every research study of the same disease.
• An established COS prevents studies from reporting only a selection of the outcomes that were measured. It is expected that they report on all outcomes in the COS.

Why is a COS important?

• If researchers measure different outcomes, it is hard to compare and contrast the effectiveness of interventions or treatments.
• A COS will help us compare CTD and GAMT deficiency studies to identify which treatments work best.

How can I contribute?

In multiple rounds of an online survey, we will show you a list of outcomes related to CTD and GAMT deficiency and ask you to rate how important each outcome is to you. The survey will be available in English, French, and Spanish. As a rare disease community, we need as many patients, caregivers, and clinicians as possible to participate!

Who is eligible?

• Adult patients (18 years or older) diagnosed with CTD or GAMT deficiency
• A parent or caregiver of a person diagnosed with CTD or GAMT deficiency
• A health care professional experienced in caring for patients with CTD or GAMT deficiency (e.g., geneticist, dietician, physical therapist, speech therapist, psychologist, neurologist, etc.)

What is the time commitment?

• You will be asked to complete 2-3 surveys within the next 3-5 months.
• Each survey will take about 1 hour to complete.
• After each survey you complete, you will be entered into a drawing to win:
  • One of five Amazon gift cards valued at $50 USD for the first survey round
  • One of five Amazon gift cards valued at $75 USD for the second survey round
  • If a third survey round is required, additional Amazon gift cards will be awarded

What is a Delphi Survey?

• A survey designed to gather opinions from multiple people and eventually reach consensus
• Delphi surveys are confidential to ensure that everyone has an equal say.
• Delphi surveys have multiple rounds (usually between 2 and 3). This means that participants get more than one chance to give their opinion.
• The figure below outlines the steps involved in a Delphi survey:

What happens in Round 1 of the Delphi Survey?

• The research team has developed a list of possible outcomes that we want to ask you about. We created this list after looking at many research papers, analyzing data from our CreatineInfo Patient Registry, and conducting focus groups with parents/caregivers of CTD and GAMT deficiency patients.
• In round 1, we will ask you to rate the importance of each outcome on a scale from 1 to 9.
• When you complete the survey, your ratings will be sent back to the research team along with the ratings from all other participants. We will then summarize the responses for each participant group (patients, parents/caregivers, and health care professionals) in a graph. These graphs will be included in round 2 of the Delphi Survey.

What happens in round 2 (and possibly round 3) of the Delphi Survey?

• We will ask you to complete the survey again. You will be given a reminder of how you rated each outcome last time. You will also see the summary graph showing how each group rated the outcomes. No one can see another individual participant’s ratings, you can only see the overall results for each group as a whole.
• Looking at your previous ratings and the summary graphs, we will ask you if you would like to stick with your original rating or change it. You are not under any pressure to change your rating if you don’t want to. It is perfectly fine for you to stick to your own rating even if you rated the outcome differently than the majority of the group.
• The research team will review the results from round 2 and decide if a 3rd round is needed. In that case, the steps above would be repeated in round 3.

What happens after the Delphi Survey?

• After the last round, you will be invited to discuss the results in a virtual meeting. You can decide later if you would like to participate in the meeting.
• At the end of this process, the research team will produce a report on the outcomes that patients, parents/caregivers, and health care professionals agreed were the most important outcomes. These are called the ‘core outcomes’ for CTD and GAMT Deficiency in children and youth.

This information is adapted from the Core Outcome Measures in Effectiveness Trials initiative, https://www.comet-initiative.org

Delphi Recruitment Poster 
Delphi Survey Information PDF
Delphi Survey Process Infographic

If you have questions please contact Emily at registry@creatineinfo.org