Recruiting

Research Studies

Discover the latest research studies and opportunities in KCNQ2-related disorders. Learn about ongoing studies and who can take part, and explore how you may be able to contribute.

Preview - Recruiting Research Studies

your voice, your impact

Recruiting Research Studies

See KCNQ2 studies Browse clinical trials

families can help by

  • Sharing medical histories
  • Providing blood or tissue samples
  • Joining registries
  • Answering surveys about daily life

KCNQ2 research in action

Before new treatments can be tested, researchers work behind the scenes in labs and models. This early phase helps scientists understand how the KCNQ2 gene affects brain cells, develop models (in cells or animal systems), and test ideas for potential treatments.

Families may be invited to contribute by sharing medical histories, providing blood or tissue samples, or joining registries.

not sure where to begin?

Get research-ready, learn the types of studies, and find a simple way to decide what’s right for your family.

Start your research journey

made for our community

KCNQ2 studies

Studies focused on KCNQ2-related disorders. Most can be done from home.

Citizen Health logo

Digital natural history study

Citizen Health

Uses medical records to collect meaningful information on how a change in the KCNQ2 gene has affected a person’s life. It includes records across multiple hospitals and providers where a participant has been seen.

What’s involved
One-time form to complete
Language
English
Who can take part
Anyone whose medical records are in English. For US families, document upload is automated. Outside the US, records in English are uploaded manually.
Enroll with Citizen Health Learn more about the study
Cook Children logo

Observational study

KCNQ2 Portal and Phenotype

Clinical records often lack the depth needed to capture the full experience of neurodevelopmental disorders. By sharing your daily observations, you’ll help create a valuable dataset that highlights the age-specific features of KCNQ2-related disorders, setting the stage for improvements in diagnosis and treatment.

What’s involved
A 10-minute virtual consent, a 20-minute online survey, and an optional virtual interview
Language
English
Who can take part
Any English speakers
Complete the form to take part
KCNQ2 Speech and Feeding Study logo

International outcome study

KCNQ2 Speech and Feeding Study

An international project examining speech, language, and feeding outcomes in people with KCNQ2-DEE. By better understanding communication and feeding, the team hopes to improve prognosis, identify who needs support, and develop more targeted speech therapy.

What’s involved
A 1-hour virtual speech and feeding assessment, and 2.5 hours of online surveys
Languages
English, French, German, Spanish, and Dutch
Who can take part
People with KCNQ2-DEE, from 6 months old to adult
Share your interest

broader epilepsy & DEE trials

Clinical trials

These trials study treatments for wider groups, such as developmental and epileptic encephalopathies (DEE). Some accept people with KCNQ2. Check each trial’s eligibility with your neurologist.

Currently enrolling

X-ACKT Study

Xenon Pharmaceuticals Inc.

Phase
Phase 3
Study medication
Azetukalner (XEN1101)
Type
Small molecule
Who
People who have had primary generalized tonic-clonic seizures (PGTCS) for at least 1 year
Age
12 years or older

ClinicalTrials.gov listingStudy website

Enrollment closed

EMERALD Study

Praxis Precision Medicines

Phase
Phase 3
Study medication
Relutrigine (PRAX-562)
Type
Small molecule
Who
People with developmental and epileptic encephalopathies (DEE)
Age
2 through 65 years old

ClinicalTrials.gov listingStudy website

we’re here to help

Heard about a study we haven’t listed?

Email [email protected]. We can help check whether it’s legitimate and share it with the community.

Research: Where to Begin Email our research team