What Does it Mean to be in a Clinical Trial?
Clinical research is medical research that studies people to understand health and disease. Clinical research helps improve the way doctors treat and prevent illness. Through clinical research, researchers learn:
- How the body works
- How illness develops in people, such as how diseases get better or worse over time
- How the body handles a possible treatment
- Which behaviors help people stay healthy and prevent illness, and which behaviors raise the chance of illness
The goal is to use science to improve people’s health care and health over time. The participants who join and take part in clinical research studies may or may not get any benefit for themselves.
What are the types of clinical research?
There are 2 main types of clinical research:
- Clinical trials, also called interventional studies
- Observational studies
Both may try to learn more about an intervention, which may be a drug, behavior, or medical device. The main difference is clinical trial participants are assigned to get an intervention, but observational study participants are not assigned to get an intervention.
Clinical Trials
Clinical trials are research studies in which researchers assign participants to get one or more interventions to test what happens in people. Because of this, clinical trials are also called interventional studies. Often, the intervention is investigational, which means it is not approved for doctors to prescribe to people.
In some clinical trials, researchers assign participants to interventions randomly. This means that researchers assign the participants by chance. Usually, participants (or their doctors) don't choose what intervention they will get when they join a clinical trial.
Observational studies
Observational studies are research studies in which researchers simply collect information (called data) from participants or look at data that was already collected. The data may be about participants’ health, habits, or environments. In observational studies, researchers do not assign participants to get an intervention. If there is an intervention, participants were already using it as part of their regular health care or daily life.
Often, researchers use observational studies to look at (observe) the different ways people behave and how it affects their health. Some observational studies use patient registries. A patient registry is an organized collection of data that patients agree to give. Researchers can use a patient registry to quickly access data provided by hundreds, or thousands, of similar patients.
from https://clinicaltrials.gov/study-basics/learn-about-studies
How the CHD2 Community Can Prepare for Upcoming Trials
Get organized. Keep your loved one's medical records up-to-date and easy to access. This includes your genetic report, diagnosis letter, seizure logs, medications lists, and recent medical summaries
Plan for logistics. Talk with your family, school, and employers early about time and travel that may be required. Some trials involve frequent clinic visits or may require overnights, long distance travel, etc. Have a plan for childcare, transportation, and work flexibility.
Stay informed.
- Sign up for updates through CCC's patient registry
- Look for opportunities on CCC's website
- Attend webinars and information sessions
Ask questions.
- What exactly will my loved one experience at each visit?
- How will the study protect my child's safety and privacy?
- Are there travel stipends or family supports available?
Prepare emotionally. Trials can be exciting but also emotionally demanding
| Phase | Purpose | Focus for Families |
| Phase 1 | Establishes safety and demonstrates how the therapy behaves in the body. | May include older children or adults first; involves close monitoring and frequent visits. |
| Phase 2 | Explores early signs of benefit and refines dose or delivery method. | Often the first time younger children can participate; helps identify optimal dosing. |
| Phase 3 | Confirms efficacy compared to placebo or current care. | May require longer participation and travel; results can lead to FDA review. |
| Phase 4 | Tracks long-term safety and effectiveness after approval. | Conducted once therapy is available; monitors real-world outcomes. |
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How CCC is Preparing for Clinical Trials
Conducting Natural History Study. Heather Mefford, MD, PhD’s team at St. Jude Children’s Research Hospital and Kelly Knupp, MD’s team at Children’s Hospital of Colorado are planning an in-person CHD2 Natural History Study that we anticipate will begin seeing patients by the end of 2026. The study design is being informed by all of the important data that families have provided through CCC surveys and entered into RARE-X, Simons Searchlight and Citizen Health over the years. The new data that will be collected in this study will help us better understand CHD2-related disorders and also provide the data for clinical trials about what happens to patients without targeted treatments and why treatment is critical.
Developing Clinical Guidelines. Under the leadership of Charuta Joshi, MD, of UT Southwestern Medical Center, CCC is conducting a Delphi Consensus Guidelines project to develop clinical guidelines for CHD2 to help clinicians know the best lines of treatments and care for individuals with CHD2 haploinsufficiency.
Provide Learning Opportunities. CCC will provide online webinars and workshops for our community to better understand how to prepare for and participate in trials and studies.
Coordinating and Collaborating. CCC will continue to bring together CHD2 researchers and clinicians from around the globe to share their knowledge and collaborate to develop innovative approaches to treating CHD2 haploinsufficiency.
Raising Money. CCC aims to raise additional funds to support families who need travel support to participate in studies. If you are in a position to underwrite financial support, please reach out to laura@curechd2.org.
Have you or your loved one been diagnosed with CHD2?
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