You can drive change by participating in research

Why Clinical Trials Matter

Clinical trials help doctors and scientists discover new treatments for rare diseases like KCNT1- related epilepsy. They give families a chance to be part of important research that could lead to better ways to treat seizures and improve lives.
Clinical trials don't just treat symptoms — they may change the future of the disease itself.

Joining a trial is a big decision. It helps researchers learn, and it gives families a way to contribute to hope for the future.

What Is a Clinical Trial?

A clinical trial is a structured research study where new treatments are tested to make sure they are safe and helpful. Participating in a trial is not the same as obtaining regular clinical care. It involves:

• Strict protocols and rules to ensure safety, being overseen by independent committees and federal regulations.

• There are risks and unknowns in trials:
  o Your child may experience side effects.
  o The treatment may help, but it may not be effective.
  o You might get a new treatment — or sometimes a placebo.

• Families should understand that joining a trial is joining research, not guaranteed therapy.

• Families can leave a trial at any time if they change their minds.

  Key Point:

  Clinical trials bring hope, but they are research. They are not guaranteed treatments.

  How Clinical Trials Are Planned

  Trials do not happen quickly. It takes years.

  • Planning a trial takes years and can be very costly, as it requires careful study design, getting funding, and IRB approval (a special review board that ensures patient safety).

  • Once approved, sites (hospitals) are set up for the trial, which can take an additional 6-9 months.

    Key Point:

    Planning takes time to make sure studies are safe, fair, and careful.

How Trial Sites Are Chosen

Not every hospital can run a clinical trial.

Sites are selected based on:

• Their experience in treating the disease.

• Their ability to manage the specific treatment safely.

• Whether the site is trained and equipped to safely conduct clinical research.

• Travel costs may be covered, but families should plan ahead.

• Sometimes families may need to travel to get to a trial site.

  Key Point:

  Sites are selectively chosen to keep children as safe as possible and collect good information.

Understanding Eligibility (Inclusion and Exclusion Criteria)

Trials use eligibility rules to decide who can be part of the study. Eligibility is determined by criteria that ensure participants’ safety and the integrity of the study. Common criteria may include:

• Age: Some trials only allow certain age groups.

• Seizure types and number: Some studies need children who have a certain kind of

  seizure or a certain number of seizures.

• Genetic mutation: Some trials require a proven genetic mutation.

• Medical history: Some health problems might prevent safe participation

• Some families may qualify for one trial and not another. Participation in one trial

  may exclude participation in future trials, depending on study design.

• Families should not relocate to participate in a trial until they are confirmed as eligible.

Key Point:

Exclusion criteria are rules that protect participants from risks or help ensure clean study results.

Baseline Data and Your Child’s Clinical History

Before starting treatment, trials typically collect baseline data — a snapshot of your child’s current condition, including seizure frequency, developmental status, and other key measures. This helps researchers measure true change. However, the baseline tracking period may be short – a few weeks or months. Also, families know their child’s patterns best and should communicate this to researchers.

As a parent, know your child's full history:

• Seasonal patterns (e.g., worse seizures in winter)

• Cycles of seizure worsening

• Other medical issues that affect seizures

  Knowing your child’s baseline is crucial to evaluate whether the treatment is having a real impact. Do you know what types of seizures your child has? Are there patterns?

• A natural history study helps researchers understand how the disease progresses over time without treatment, providing important context to interpret trial results. Have you participated in a natural history study or electronic medical records sharing program?

Key Point:

Sharing your child’s full history gives a better picture of real change during the trial.

Phases of Clinical Trials

Clinical trials have different phases. You should understand what phase you are enrolling in.

• Phase 1: Tests safety in a small group of people.

• Phase 2: Focuses on early signs of effectiveness and safety.

• Phase 3: Larger studies to confirm effectiveness and monitor side effects.

• Phase 4: After approval, continues to collect data.

Compassionate use: In some cases, patients may access treatments outside the trial if they cannot join, but this may skip phases.

Placebos, Randomization and Open Label

Some trials use placebo groups to determine the treatment’s true effect.

• Participants may be randomly assigned to either the treatment or placebo group.

• In some cases, after a placebo period, families can receive the treatment in an

  open-label extension phase.

• Families will be told whether a placebo is part of a study during the Informed

Consent process.

Informed Consent: What it Means for Families

Informed consent is an important process where families learn about the trial, including risks, benefits, and the study design. Parents must understand:

• They can ask questions about the trial at any time.

• They can leave the trial at any time if they choose.

• It is essential to make decisions based on a balance of hope and realism.

  Key Point:

  Informed Consent protects you and your child.

Time Commitment, Side Effects and Monitoring During a Trial

Like all treatments, there are potential side effects. Some side effects are mild, others more serious.
Trials may involve:

• Frequent clinic visits.

• Blood tests, brain scans, or other medical tests such as lumbar punctures.

• Filling out seizure diaries every day.

• Safety monitoring will be ongoing.

What to Expect Logistically and Emotionally

Logistical aspects family should prepare for:

• Frequent communication with the study team. This may be a separate team from your regular health care team, even if it is in the same hospital.

• Families may need to travel to trial sites.

• Expect extra medical visits and tests.

• Financial support for travel may be available.

  Emotional aspects:

• Trials can be uncertain — the treatment may or may not work, and side effects could occur.

• It’s important to have a strong support system and communicate openly with your team.

What Happens After the Trial Ends?

At the end of the trial:

• Some participants can continue the treatment through open-label extensions.

• In some cases, patients may be returned to standard care or offered the treatment

  through other options.

• There may be limited access to the treatment if it shows promise but is not yet approved.

Trial Endpoints and Measuring Progress

Endpoints are what the trial is measuring to decide if the treatment works. In neurological and epilepsy trials, the main endpoints may include:

• Motor seizures you can see (generalized tonic clonic, focal motor, etc) and can exclude types like atonic seizures.

• Developmental progress or changes in function over time.
Knowing your child’s baseline is crucial in comparing whether improvements are real, or just part of the natural progression of the disease.

• Natural history studies are key to understanding how a condition might progress without treatment.

Key Takeaways for Families

• Clinical trials are vital for discovering new treatments.

• Trials are carefully planned and monitored to ensure safety.

• Participation is a choice — it’s important to understand eligibility, risks, and what’s expected.

• Families should be aware of logistical and emotional factors involved in joining a trial.

• Data from baseline and natural history studies are critical for measuring true progress.