Community Roadmap
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
Citiizen: 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.
Create an account using our link
Give permission
Upload images of your ID & genetic report
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
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. 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.
Be part of the solution:
Participate in Observational Research Studies
Observational research studies are an essential tool for designing clinical trials. They ensure that the patient perspective is understood, and your data provides valuable insights into the natural history of a disease. This can help identify potential treatment options. In this webpage, we will discuss the importance of patient centered, observational research studies in designing clinical trials.
Observational research studies don't test potential treatments. Instead, participants stay on their normal treatment plan. Researchers observe participants and track health outcomes over time. They can be a one-time study looking at past data, or can be ongoing or longitudinal study like in our Research Registry. Participation could be as simple as a single blood draw or filling out a questionnaire. Unlike interventional studies, you can be in more than one observational study at the same time because the studies do not involve any changes to your regular treatment plan.
You have the power to help researchers understand how KCNT1 starts and progresses. This can transform the way new treatments are developed and tested. Together, we can change the future of KCNT1 related disorders.
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!
Why Participate in Research?
clinical trials
An interventional study tests (or tries out) an intervention -- a potential drug, medical device, activity, or procedure -- in people. It is also commonly referred to as a clinical trial. Clinical trials are research studies performed in those with a medical condition like KCNT1 related epilepsy. They scientifically evaluate questions such as:
Does this investigational drug work?
Does it work better than another medicine already available?
Does it cause any side effects?
Are there any other benefits that could improve patient quality of life?
Is there a new way to use an existing treatment?
Without volunteers, clinical trials cannot exist and we would not be able to find new treatments. Families who participate in clinical trials are on the cutting edge of helping us to find better treatments and cures.
Should I Participate In A Clinical Trial?
The main purpose of clinical trials is to “study” new medical products in people. It is important for people who are considering participation in a clinical trial to understand their role, as a “subject of research” and not as a patient.
While research subjects may get personal treatment benefit from participating in a clinical trial, they must understand that they:
may not benefit from the clinical trial,
may be exposed to unknown risks,
are entering into a study that may be very different from the standard medical practices that they currently know
To make an informed decision about whether to participate or not in a clinical trial, people need to be informed about:
what will be done to them,
how the protocol (plan of research) works,
what risks or discomforts they may experience,
participation being a voluntary decision on their part.
Learn more here on things to consider before you participate in a trial.
KCNT1-Specific Trials
Clinical Trials For KCNT1-related Epilepsy
Currently there are no trials designed specifically for KCNT1 related epilepsy or related disorders. There are several companies who are testing treatments in their labs, so they are designated as pre-clinical. 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.
Recruiting STARS Phase 3 Staccato Alprazolam Study >> Recruiting
The STARS Phase 3 Staccato Alprazolam Study is designed for people ages 12 and over who experience clustered or prolonged epileptic seizures lasting more than 3 minutes. It tests an inhaler containing an investigational drug to see whether it could help people who experience prolonged epileptic seizures.
Are 12 years of age or older
Have focal or generalized epilepsy, or a combination of the two
Have experienced at least 2 prolonged seizures within the past 3 months
Have an adult who can act as a study partner to assist you throughout the study
SKYWAY Phase 3 Soticlestat (TAK-935) Study for persons with LGS diagnosis >> Recruiting
This anti-seizure medicine slows down the activation of the enzyme cholesterol 24-hydroxylase (CH24H). It has the potential to reduce seizure susceptibility and improve seizure control. It is currently in phase 3 studies for those with Lennox Gastaut Syndrome.
The aims of the study are:
to learn if Soticlestat, when given as add-on therapy, reduces the number of major motor drop seizures in children, teenagers, and adults with Lennox-Gastaut Syndrome.
to assess the safety profile of Soticlestat when given in combination with other therapies.
Participants will receive their standard antiseizure therapy, plus either tablets of Soticlestat or placebo. A placebo looks just like Soticlestat but will not have any medicine in it. Participants will take soticlestat or placebo for 16 weeks, followed by a gradual dose reduction for 1 week. Then, participants will be followed up for 2 weeks.
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. Check back often for new posts. Last updated 4/18/23
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
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/