This week we are going to highlight Pillar 4 – Accelerating and Preparing for Clinical Trials in our Roadmap to a Cure 2.0. We will feature a 2022 Science Summit presentation titled, “Clinical Trial Basics: What Parents Need to Know About Trial Participation” presented by Jennifer Panagoulias, our head of regulatory and policy as well as the co-director of ABOM. This talk was extremely helpful in breaking down the basics of what a clinical trial is and providing useful questions to consider and ask for anyone interested in enrolling themselves or a loved one in a clinical trial.

Clinical trials can either be “observational,” where individuals are observed without an intervention, in order to provide information and/or measure a symptom like the Natural History Study, or a trial can be “interventional” where individuals are assigned some sort of potential treatment like a drug or a device. There are typically three trial phases in a clinical study.

• Phase 1 focuses on safety of the drug and is often the first time it has been tested in humans
• Phase 2 focuses on safety and efficacy of the drug (does the drug do what I want it to)
• Phase 3 confirms the safety and efficacy in a robust group of individuals, usually a much larger number than what is done in a phase 1, 2 or 1/2 (a combination of 1 and 2).

Often there is overlap in rare disorders between the three phases as the population is quite small. A large component of studies in the early phase focuses on exploring dose ranges and safety of those doses. Important questions for you to ask are:

1. Which dose group is my child enrolled in?
2. Can you tell me about the safety in the earlier dose groups?
3. Can you tell me about what was found in the animal studies as it relates to safety?

What about control groups in clinical trials? There are several types of control groups including: 

• Placebo (non-active or “dummy” treatment)
• Sham (a pretend procedure that gives the appearance of an intervention) and;
• Historical (external reference) data that could have been gathered from a natural history study or other control groups from other studies that were conducted and shared 

The treated group will be the “active group” that receives a drug. Controls are used to minimize bias in a study and help to compare outcomes between treatment groups when the disease is not predictable or does not behave the same in every individual. They also help to understand the safety of the drug and establish if the drug has benefit, especially when endpoints are often subjective (e.g. parent questionnaires, parent reported, surveys, etc). Important questions to ask here are:

1. How many individuals are in the placebo group compared to the active group?
2. How long will my child have to be on the placebo?
3. Will my child eventually be offered the drug if assigned to placebo?
4. When will I be told what group my child has been assigned to?

Another important aspect of clinical trials is the key information that needs to be covered in an informed consent form as well as risk expectancy depending on early or later stages of clinical trial enrollment. For more information, watch the whole talk here:

In this talk, Jennifer ended discussing some of the logistics involved in enrolling for clinical trials including eligibility criteria, correct points of contact, and sources of clinical trial information. She ended the talk with the question every parent has – Should I enroll my child in a clinical trial? This question can ultimately only be answered by you, your family, and your doctor on the study that knows the background of this drug candidate. Time should be allotted to consider all factors and prepare questions prior to enrollment.