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Your Participation Powers KCNT1 Research and Treatments

Your Participation Powers KCNT1 Research and Treatments

Every registry entry, survey, and study moves us closer to better care and cures!

Understanding Clinical Research

Clinical research is medical research that involves people. It helps scientists answer important questions and develop new treatments, devices, or ways to improve care.

Every study is different, and it’s important to understand the type of study before you decide to participate.

Two Main Types of Clinical Research

Observational Studies

  • Researchers collect information about participants but do not assign a new treatment or intervention.
  • Examples: registries, natural history studies, biomarker studies, surveys, reviewing EEGs and medical records, or collecting blood or other samples.
  • Why they matter: They create baseline data needed to design and launch clinical trials. Families can usually participate in multiple observational studies at once.
  • Enroll in the KCNT1 International Registry, complete symptom and quality-of-life surveys, or consent to securely share medical records, blood and tissue samples, and EEGs.
Learn More About Participation

Clinical Trials (Interventional Studies)

  • These test whether a new treatment works, what side effects it may cause, and how it compares to current therapies.
  • Researchers test a new treatment, device, or procedure to see if it is safe and effective.
  • In a clinical trial, participants are randomly assigned to receive either the investigational treatment, a medical device, or something to compare it against—such as the current standard of care or a placebo.
  • Trials go through phases (I–III) to answer questions about safety, effectiveness, and comparisons to current options.
  • Why trials matter: They provide the evidence regulators like the FDA need to approve new therapies.
Trial Participation

Why Your Participation Matters

Your story, data, and questions shape the future of KCNT1 treatments. In rare diseases like KCNT1-related disorders, families are often the first—and sometimes the only—source of critical insights.

Every survey completed, sample shared, and trial joined moves us closer to better care and cures.

Current Observational Studies

KCNT1 International Registry (coming soon)

Who can participate: Anyone with a KCNT1 variant

What’s involved: Series of online surveys (Coming soon)

Link

Citizen Health Natural History Study

Who can participate:

  • U.S.: Citizen Health will request records
  • Global: Upload medical records (must be in English)

What’s involved: One-time form + medical provider updates

Link

Danish ADSHE EMR Study

Who can participate: Caregivers or those with ADSHE diagnosis due to KCNT1

What’s involved: Medical history interview & EMR analysis. Email us at Research@KCNT1epilepsy.org

Blood and Tissue Donation – Biosample Repository

Who can participate: Parents who wish to provide blood or other biospecimens

What’s involved: Fill out the form.

Link

Biomarker Study (coming soon)

Who can participate:

What’s involved:

EEG Collection (coming soon)

Who can participate:

What’s involved:

KCNT1-Specific Clinical Trials

Currently there are no approved clinical trials designed for KCNT1, but several therapeutics are in the pipeline. Announcements are expected soon.

By joining a trial, you are not only trying something new for your child—you are contributing to research that could change the future for others like them. It’s a deeply personal choice, and this guide is here to help you understand all aspects of that decision.

Your Role Is More Than Just a Participant As a parent, you know your child best. Your observations, questions, and feedback are incredibly valuable to the research team. You are a partner in the process.

You’ll help collect data—like seizure logs, behavior changes, or improvements in communication—that help researchers understand whether a treatment is really making a difference.

Actio Biosciences

Therapy: ABS-1230 small molecule

Phase: Phase 1 – The FDA approved testing in healthy adults. Trials are expected to enroll in 2026.

Class: Small molecule

Target: KCNT1

Delivery: Oral

Learn More

Servier

Therapy: ASO

Phase: Not recruiting yet.

Class: ASO

Target: KCNT1

Delivery: Intrathecal

Atalanta

Therapy: ATL-201

Phase: Preclinical

Class: di-siRNA

Target: KCNT1

Delivery: Intrathecal

Undisclosed

Therapy: Small molecule or ASO

Phase: Preclinical

Target: KCNT1

Delivery: Oral or Intrathecal

Other Clinical Trials

Currently there are no approved clinical trials designed for KCNT1, but several therapeutics are in the pipeline. Announcements are expected soon.

Lundbeck

Therapy: Bexicaserin

Phase: Phase 3

Class: Small molecule

Target: 5-HT2C

Delivery: Oral

Status: Enrolling

Learn More

Frequently Asked Questions about Clinical Trials:

Dive deeper into common questions about participating in clinical research and trials.

Can I participate in more than one study at the same time?

You can often participate in multiple observational studies because they don’t involve experimental therapies. For clinical trials, you must ask the trial’s Primary Investigator, as some studies prohibit participation in another trial simultaneously to ensure data integrity.

Who is eligible to participate in a clinical trial?

Each study has specific inclusion and exclusion criteria, which are carefully designed based on the research goals and safety considerations. You may qualify for one trial but not another, depending on factors like age, diagnosis, medical history, and current medications.

If I am eligible for a trial, how do I enroll?

Contact the study organizers or research coordinator listed on the trial announcement. They will guide you through the process, which typically involves a screening process to confirm eligibility, followed by informed consent and scheduled eligibility tests.

What if I don’t qualify for a clinical trial?

Don’t be discouraged. Stay connected with your doctor, patient advocacy groups, and KCNT1 community. Research is rapidly evolving, and more studies are opening all the time. Your eligibility criteria may change, or new trials with different requirements may emerge in the future.

Safety & Ethics: How do I know if a study is safe?

Clinical trials are highly regulated and undergo rigorous review by Institutional Review Boards (IRBs) or Ethics Committees to protect participants’ rights and safety. Researchers must adhere to strict protocols and monitor participants closely for any adverse effects.

Safety & Ethics: What are my rights and responsibilities?

As a participant, you have the right to informed consent, privacy, and to withdraw from the study at any time without penalty. Your responsibilities typically include following study instructions, reporting side effects promptly, and attending scheduled appointments.

Safety & Ethics: Can I share my experience publicly?

You are generally free to share your personal experience participating in a study. However, you should not share confidential study information, such as unpublished results or specific details that could identify other participants, without explicit permission.

What to Expect: What is informed consent?

Informed consent is a process where researchers provide you with comprehensive information about the study, including its purpose, procedures, risks, benefits, and alternatives. You must understand and voluntarily agree to participate before any procedures begin.

What to Expect: Will my medical care change?

Your existing medical care may or may not change during a study. Some trials require participants to pause or adjust certain medications, while others allow current treatments to continue. This will be clearly outlined in the informed consent process.

What to Expect: What happens during a clinical trial?

During a clinical trial, you will have regular visits for assessments, tests, and to receive the investigational treatment or placebo. These visits monitor your health, the treatment’s effects, and any potential side effects. The schedule varies by trial phase and design.

What to Expect: How long do clinical trials last?

The duration of clinical trials varies widely, from a few months to several years, depending on the phase, disease, and the nature of the intervention. You will be informed of the expected duration during the informed consent process.

Finding Trials: Where can I find out about clinical trials?

Reliable sources include clinical trial registries like ClinicalTrials.gov, the KCNT1 International Registry, patient advocacy organizations, and your treating physician. Always verify information with official study contacts.

Finding Trials: Can I join if I live outside the U.S.?

Clinical trials are often global collaborations with sites across multiple countries. Eligibility is guided by each study’s protocol and local regulations in participating regions. Please review the trial listing for current locations and contact details—the study team can advise on options for your country or region.

Finding Trials: Can I join if I live outside the U.S.?

Clinical trials are often global collaborations with sites across multiple countries. Eligibility is guided by each study’s protocol and local regulations in participating regions. Please review the trial listing for current locations and contact details—the study team can advise on options for your country or region.

Finding Trials: Do studies cost money to join?

Participation in clinical trials is generally free, and often, study-related medical care and investigational treatments are provided at no cost. Some studies may even cover travel expenses or provide compensation for your time. This information is clearly stated in the consent form.

Finding Trials

  • Visit www.ClinicalTrials.gov for a searchable database of U.S. and international trials.
  • Check the KCNT1 Trials & Studies Portal for studies specific to KCNT1.

Disclaimer

We gratefully acknowledge many organizations for educational resources we have provided here: SCN2aFamilies, Global Genes, Dravet Syndrome Foundation, International Rett Syndrome Foundation, Angelman Clinical Trials, LGS Foundation, NIH, HHS, FDA, and others.

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