You can drive change by participating in research

Clinical trials are coming soon to the KCNT1 community.

Will you be informed?

At the KCNT1 Epilepsy Foundation, we’re committed to driving research forward through parent participation in both clinical trials and observational studies. By contributing real-world data and joining studies when possible, families play a powerful role in accelerating the path to new treatments.

We’re also here to help our community understand what it means to participate in a clinical trial. Clinical trials are research studies performed in people that test new ways to detect, diagnose, treat, or prevent disease. We will connect our community members with trial opportunities as they become available and provide clear, unbiased educational information to support informed decision-making. Please note: we do not provide medical advice and are not affiliated with or endorsing any one life science company.

More than 15 companies and academic labs are currently working on therapeutics specifically aimed at treating KCNT1-related epilepsy. This is a major breakthrough—because current, generic anti-seizure medications do not target the dysfunctional KCNT1-encoded potassium channel in the brain and have shown limited or no benefit in most affected individuals. We will be highlighting therapies designed to act directly on KCNT1, many of which are first-in-class approaches.

Scroll down to learn more about the companies investing in KCNT1 research, the scientific strategies they’re testing, and where each program stands in the research and development pipeline. You’ll also find guidance on how to become “clinical trial ready”—a key step in bringing new treatment options to life for our community.

THERAPEUTIC DEVELOPMENT PIPELINE

The pathway to developing a therapeutic can be divided into five stages: discovery and development, preclinical research, clinical research, drug review, and post-market safety monitoring. They are explained here (https://www.rettsyndrome.org/rett-research-ready/#foobox-3/0/foobox-inline-researchstages), with thanks to the Rett Syndrome Foundation. So far, therapeutics for KCNT1 have been developed through the discovery and preclinical phases, and have yet to progress to clinical trial.

Stage 1: Discovery & Development

Several companies and labs are in the discovery and development stage which spans basic research in the lab to animal model research. During this step a potential therapeutic is identified and tested in many ways in the lab to show that it works (called efficacy), and a most promising version of the therapeutic (often called the lead candidate) is chosen for next stages. This stage may involve 5-10 years of testing.

Stage 2: Preclinical Research & Development

After a lead candidate has been selected in the discovery stage, the candidate therapeutic must be tested more carefully and strenuously for safety and efficacy in cell culture and animal models. These tests follow regulatory agency mandated requirements. This stage can last 3-5 years and if successful, results in an Investigational New Drug Application (IND) application to the Food and Drug Administration (FDA), which is a request to begin clinical trials. To date, no KCNT1 therapeutic has moved from the preclinical phase to the clinical phase, though we hope clinical trials may initiate in late 2025.

Stage 3: Clinical Trials – Phase 1, 2, and 3

Once an Investigational New Drug (IND) application is approved by the FDA, the therapeutic enters the clinical trial phase, which involves testing in humans. These trials are conducted in three progressive phases.

  • Phase 1 involves a small group of healthy volunteers or affected individuals and is primarily focused on determining safety, dosage range, and side effects.

  • Phase 2 expands the testing to a larger group of affected individuals to evaluate efficacy and continue monitoring safety.

  • Phase 3 includes even larger populations—often hundreds of patients across multiple clinical sites—to confirm effectiveness, monitor side effects, and compare the drug to standard or placebo treatments.

For rare diseases like KCNT1-related epilepsy, patient recruitment is challenging and may require international collaboration and innovative trial designs. The full clinical trial process may span 5–7 years or longer depending on the availability of patients, trial design, and regulatory review. If successful, the company can then submit a New Drug Application (NDA) to the FDA for marketing approval.

Stage 4: FDA Review, Approval & Post-Market Monitoring (Phase 4)

If the Phase 3 results support the therapeutic’s safety and effectiveness, the FDA will review the NDA, which includes all data from laboratory, animal, and human studies. This regulatory review period typically takes 6–10 months. If approved, the therapeutic may be sold and prescribed to patients. However, the process doesn’t end here.

In Phase 4 (post-marketing surveillance), the therapeutic continues to be monitored for long-term safety, side effects, and effectiveness in the broader population. This stage is crucial for identifying rare adverse events that may not have appeared during earlier phases and may lead to updated warnings, label changes, or in rare cases, withdrawal from the market. For KCNT1, post-market studies could help identify long-term impacts on neurodevelopment or seizure burden and inform ongoing care strategies.

clinical trials

KCNT1-Specific Trials

Currently there are no trials designed specifically for KCNT1 related epilepsy or related disorders but hopefully, will be coming in late 2025 or 2026. There are several companies who are testing treatments in their labs, so they are designated as pre-clinical.  

INDs for 3 KCNT1-directed therapies should be filed in 2025:

1.ASO - Servier​

2. Divalent siRNA - Atalanta Therapeutics

3. Small molecule - Actio Bio

More information is coming soon!

 

Clinical Trials For General Epilepsy or Other Syndromes 

The following trials are not designed for KCNT1, however you might consider discussing them with your healthcare team.

Remember to read the details and discuss with your team, you may receive a placebo in some trials. Be sure to review the Informed Consent with your doctor.  

DEEpOcean Study for Bexicaserin - Lundbeck/Longboard Pharmaceuticals

Bexicaserin (LP352) is a selective serotonin receptor agonist drug that is under development for the treatment of seizures in individuals with developmental epileptic encephalopathies (DEEs) including KCNT1.

The DEEpOCEAN Study is a Phase 3 trial investigating the efficacy, safety, and tolerability of Bexicaserin in the treatment of seizures in children and adults with DEEs. Lundbeck/Longboard Pharmaceuticals is sponsoring the trial.

Site: 80 sites in 17 countries, including over two dozen in the US

Enrollment: 320 participants

More information: 

Please visit https://deepdeestudy.com/ for more information adn to see if your loved one qualifies

to take part in the study

Additional information can be fournd here: https://clinicaltrials.gov/study/NCT06719141

Status: *This study IS currently enrolling participants*

The KCNT1 Epilepsy Foundation does not endorse any clinical trial. We provide this as informational only.

We encourage you to discuss clinical trials with your healthcare team to decide it it is something you wish to consider for your child.

To Learn More or Search for Clinical Trials

 For more information about clinical trials, visit NIH, ClinicalTrials.gov

https://www.nih.gov/health-information/nih-clinical-research-trials-you/basics 

https://rarediseases.org/?s=&post_type=clinical-trial&order=DESC&orderby=relevance&posts_per_page=12&compare=AND

For information about clinical trials sponsored by private sources, contact:
http://www.centerwatch.com/

For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/

 

A Guide for Parents: KCNT1 Clinical Trial Readiness

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.

Observational Research:

Our Research Studies and Partners in Data Collection

One obstacle in developing drugs for rare diseases is a lack of patient data. So it is critical our KCNT1 patients participate in as many research studies as possible, this includes trials and obervational studies. An observational study is a type of study that observes an individual or group without any intervention or treatment. This section includes natural history and registry studies, as well as other observational studies.

Goals for our observational research  

  • to provide insights on disease progression to inform researchers and drug discovery effort (could ID new biomarkers or outcome measures) 

  • to understand what symptoms affect patients and families most 

  • to inform the FDA of the disease and what parents want from a treatment 

  • to help identify and select “clinically relevant” outcome measures for clinical trials 

Below are the current observational projects for KCNT1. We hope to get as many of you to participate as possible!

Your data is critical in the fight against pediatric epilepsy caused by the KCNT1 gene!

Natural History Studies and Registries

A natural history study looks at how a disease changes over time in a patient population. A patient registry is an organized system for collecting, storing, and disseminating information about people who have a disease. Some patient registries function or can be used for natural history studies and are often used to recruit patients for clinical trials.

  1. The KCNT1 Contact Registry or Family Contact List

  2. The KCNT1 Epilepsy Foundation Natural History or Firefly Study - on the NORD I Am Rare platform (coming soon)

  3. Partner, Citizen Health - U.S .- Citizen Health will request records. Global, medical records can be uploaded; must be in English

By contributing your data, you can make your voice and experience be heard. With studies that capture your family’s experience, called patient centered research, you will help us establish a robust knowledge base that our researchers, clinicians, and biotech partners can rely on as we progress towards finding a cure. We have collaborated with multiple organizations to gather natural history data and biological samples from individuals with KCNT1 variants. Engaging in research studies is a crucial means of expanding our understanding of KCNT1 and expediting the development of future treatments and therapies.

As pharmaceutical companies get closer to applying for clinical trials, they may have specific data needs. Some of you may be contacted to participate in additional studies.

Learn more about why observational studies are important.

Why Participate in Research?

Be part of the solution: Get started today

Join the community

Step 1

Sign up for the KCNT1 Epilepsy Foundation Family Contact List.

Contact Information for all families and their warriors. This provides our official count of warriors. Include your location, variant and phenotype.

What: Online form

Who: All KCNT1 parent or primary caregiver, one parent per family.

Status: Ongoing

Enroll in Citizen Health

Step 2

Citizen: Help us understand more about KCNT1 to improve care. Share your health information in a few easy steps! Bonus: You get access to your records and can share with anyone.

Electronic medical record compilation for study comparison. Give permission to Citizen to collect your medical records in order to allow statistical analysis across all patient records for research.

  1. Create an account using our link

  2. Give permission

  3. Upload images of your ID & genetic report

  4. Contact info for neurologist and hospital. The more you add the better!

What: Medical Records study

Who: U.S. only, one parent per family

Status: Ongoing

Donate Blood or other tissues

Step 3

Biorepository through partner, COMBINEDBrain.

Library of biological specimens from KCNT1 patients and a parent or sibling, primarily form blood or skin samples and cerebral spinal fluid. Consent and agree to blood draw. Either at a healthcare provider’s office, lab or with appointment for home draw. Or, schedule blood draw and CSF to coincide with other procedure. We can also accept additional tissues and organs. Fill out our interest form or if there is an urgent situation and you wish to donate tissues or organs, email us directly.

What: Biobank

Who: U.S. only, persons with a KCNT1 gene mutation

Status: Ongoing

EEG Collection

Step 4

Biomarker study to look for unique EEG signals in KCNT1 patients.

Requesting EEG raw data from provider in a digital format. Hold for further instructions.

What: Registry

Who: ALL KCNT1 patients

Status: Ongoing

View Our Webinars

Watch our Webinar on the “Path to a Trial” on our YouTube channel. This presentation by Drs. Ali Rosenberg and Brad Bryan introduces the clinical development pipeline, the KCNT1 Epilepsy Foundation’s contributions to the clinical pipeline, a research and clinical trials overview, and what clinical trial readiness and our educational plan looks for the KCNT1 community. Important information includes overviews on the steps patients and families can take to be clinical trial ready and the role of caregivers in clinical trials. Future webinars will cover clinical trial basics, clinical trial preparation, addressing concerns, caregiver support, and the enrollment process.

Watch our Webinar on “Your Data: What We Know Today” on our YouTube channel. This presentation by Megan Wright and Dr. Brad Bryan shows what we’ve learned about our KCNT1 community by analyzing the data from our former Luna registry and the Citizen database, highlighting the importance of coming together to share electronic medical record data through these platforms. Megan shows data on how our community has grown and demographic information, and Brad shows what he’s gathered from the data about diagnoses, common procedures, medications, reasons for hospital admissions, and more.