Your first step in participating in research and studies should be to create a CRID identifier (Clinical Research ID). Think of the CRID as your passport in the research world. It allows your data to “travel” safely between studies, hospitals, and scientists, enabling collaboration while protecting your identity. Patients can share their CRID identifier with investigators on research studies that support the CRID they are participating in. By sharing your CRID (KCNQ2 Research ID), researchers can then reuse, merge, and share your research data without using your personal identifiable information. This helps create a dataset for an individual vs. a variant. For more information, you can read this recent publication.

To create your CRID today, visit https://thecrid.org. You can watch the video below to see how quick it really is. It takes 2 minutes!

Introduction to the Clinical Research ID

Clinical trials are research studies that test new treatments to determine if they are safe, effective, and appropriately dosed. In the United States, the Food and Drug Administration (FDA) reviews clinical trial data before approving a drug for public use.

Why Clinical Trials Matter

Clinical trials are essential for advancing medical knowledge and improving patient care. For rare conditions like KCNQ2-related disorders, clinical trials help determine whether potential treatments are safe and effective for our community.

Who Can Participate

Each clinical trial has specific eligibility criteria, such as age, diagnosis, medical history, or prior treatments. These guidelines ensure that the study results are accurate and that participants are kept safe.

What to Expect

If you take part in a clinical trial, your care team—doctors, nurses, and other health professionals—will closely monitor your health. You may have more medical visits and tests than usual, and you may sometimes need to travel to a study site. 

Benefits and Risks

Participating in a clinical trial may offer early access to promising new therapies and provide expert medical attention. Even if you don’t personally benefit, your participation helps advance research for others affected by KCNQ2.

However, new treatments may not always be better than standard care, and unknown side effects can occur. Some costs related to participation—like travel or certain medical expenses—may not be fully covered by insurance, so it’s important to check with your healthcare provider and insurer beforehand.

Off-Label Use

Sometimes, approved drugs are prescribed for uses not listed on their FDA label—this is called off-label use. It is legal and common in rare disease treatment, but it may not always be covered by insurance. Patients and families should work with their doctors to understand potential benefits, risks, and costs before pursuing off-label treatments.

You Can Read More About Clinical Trials Here.

Observational studies do not test treatments. Instead, they collect data that helps researchers understand how KCNQ2-related conditions develop and change over time.

Main types include:

• Patient Registries: Secure databases where individuals or caregivers share information about symptoms, treatments, and experiences.

• Natural History Studies/Longitudinal Studies: Long-term projects that follow participants over time to see how symptoms progress.
  Example: KCNQ2 Natural History Study at Boston Children's and Citizen Health

• Trial-Readiness Studies: Designed to identify what outcomes are most meaningful to families and how best to measure them.
  Example: Current research on KCNQ2-DEE outcome measures presented at ISPOR Europe 2024.

Why it matters: These studies make sure future treatments focus on what truly impacts families’ lives.

Some projects focus on tools and technologies that help families and researchers collect, organize, and share valuable data.

Examples include:

• Citizen Health Platform: Securely stores medical records and videos for approved KCNQ2 studies.

• Seizure Tracker App: Helps track seizures, sleep, and wellness for easier reporting to care teams.

These supporting studies strengthen the entire research ecosystem, turning family experiences into progress for future treatments.

Observational studies do not test treatments. Instead, they collect data that helps researchers understand how KCNQ2-related disorders develop and change over time.

Once scientists have enough data from early and observational work, they begin testing potential treatments. These studies explore whether a therapy, device, or behavioral approach is safe and effective.

Examples of KCNQ2-focused studies:

• XEN496 Clinical Trial — a pediatric formulation of ezogabine developed to treat KCNQ2-DEE (Xenon Pharma).

• Personalized “N = 1” Studies — highly individualized treatment programs for unique KCNQ2 variants, using precision genetic approaches.

What to expect: Participants may receive the new treatment, a comparison therapy, or a placebo. Every trial follows strict safety rules and informed-consent procedures.

• Your Rights and Protections: Participation is always voluntary. You can withdraw at any time. Privacy and data security are protected through strict protocols.

• Informed Consent: Before joining any study, you’ll receive full details about the purpose, risks, and what will be asked of you.

• Making the Choice: Learn about study types, talk with your care team, and decide if and when participation feels right for your family.

Learn more about current opportunities at kcnq2cure.org/research.