Stay connected. Sign up for our newsletter to hear about new studies, surveys, and research findings.

Know your variant. Keep a copy of the genetic test report that names the KCNQ2 change (also called a variant or mutation). Ask your neurologist or genetic counselor whether it is loss-of-function or gain-of-function. Many studies and future treatments depend on this. Our KCNQ2 Genetics page explains the terms.

Record a baseline. To know if a treatment helps, researchers need to know where things started. Track seizures, sleep, feeding, and development in a journal or app. Short phone videos of seizures, movement, and communication are especially helpful to share with your care team and researchers.

Gather medical records. Request copies from each hospital and provider, or download them from a patient portal like MyChart. Include EEG reports, MRI reports, genetic results, and a current medication list. Citizen Health can collect and organize records for you (United States only for now; see Citizen Health and Ari above).

Know where to look for studies.

• Our Recruiting Research Studies page lists current KCNQ2 and DEE opportunities.
• Your neurologist may know of studies, or may be a researcher.
• ClinicalTrials.gov lists studies worldwide. Search “KCNQ2,” “neonatal epilepsy,” or “developmental and epileptic encephalopathy.”
• Other families and social media can share leads. Check with your doctor before acting on them.

Heard about a study we haven’t listed? Email research@kcnq2cure.org. We can help check whether it’s legitimate and share it with the community.

Research happens in stages, and families can help at every one. Observational studies learn from your experience; interventional studies test a treatment.

1. Lab research
2. Observational studies
3. Clinical trials
4. Approved treatment

Lab (preclinical) research. Scientists study how KCNQ2 changes affect brain cells, using cell and animal models. Families can help by donating blood or other samples.

Patient registries. A registry collects information from many people with the same condition so researchers can find and learn from them.

Natural history studies. These follow how KCNQ2-related disorders change over a lifetime, showing drug developers what matters most and how to measure improvement. KCNQ2 examples: Citizen Health (medical records; US only) and KCNQ2 Portal and Phenotype (caregiver survey).

Outcome and trial-readiness studies. These build the tools that show whether a treatment is working. KCNQ2 examples: the KCNQ2 Speech and Feeding Study and the ORTAS toileting survey from COMBINEDBrain.

Bio-repositories (biobanks). These store donated samples such as blood, urine, or plasma for future research. KCNQ2 example: the KCNQ2 Biorepository with COMBINEDBrain. Some families also choose brain tissue donation after a loved one dies, a generous gift that continues to help others.

Interventional studies and clinical trials. These test whether a drug, device, or therapy is safe and works. Some broader epilepsy and DEE trials accept people with KCNQ2. See Recruiting Research Studies.

Individualized (N-of-1) treatments. A therapy designed for one person’s specific variant, measured against that person’s own baseline.

A clinical trial tests a new treatment in people to learn whether it is safe and whether it works. Every trial follows a written plan, called a protocol, reviewed by an ethics board.

Sponsor

The company or group that runs and pays for the trial

Principal investigator (PI)

The doctor who leads the trial at a site

IRB

Institutional Review Board, an independent group that protects participants

Eligibility criteria

Rules for who can join, such as age, diagnosis, or current medicines

Placebo

An inactive look-alike treatment used for comparison

Randomization

Participants are assigned to groups by chance

Blinded

Participants, and sometimes doctors, don’t know who gets which treatment

Open-label extension

A follow-up period where everyone may receive the study drug

the four phases

In rare diseases, phases are sometimes combined because there are fewer participants.

Learn more: NIH: Clinical Research Trials and You · ClinicalTrials.gov: Learn About Studies · Global Genes RARE Resource Hub

There is no treatment yet approved specifically for KCNQ2-related disorders. Several approaches are being studied, and the right one may depend on whether a person’s variant is loss-of-function or gain-of-function.

Small molecule medicines. Pills or liquids, like most everyday medicines. Researchers are studying “Kv7 openers,” which help the potassium channel open and may calm overactive brain cells. Some are in trials for broader epilepsy groups, and existing medicines are being studied for specific variants.

Antisense oligonucleotides (ASOs). Short strands of genetic material that change how much protein a gene makes. For KCNQ2, ASO work aims to lower the protein made by the changed copy of the gene. Usually given by lumbar puncture every few months. Read our post on gene therapies.

Gene therapy. A one-time treatment that delivers genetic material to brain cells. Some approaches aim to quiet the changed gene and add a healthy copy at the same time.

Gene editing. Tools such as CRISPR that change the genetic code directly. This is early-stage research for KCNQ2.

Devices. Neurostimulators such as VNS, RNS, or DBS are used for some people with hard-to-control seizures.

how a new medicine gets approved

1. 1Lab researchIdeas tested in cells and animal models
2. 2Preclinical safetySafe enough to test in people
3. 3IND approvalRegulator allows human trials
4. 4Clinical trialsPhases 1–3: safety, dose, benefit
5. 5Regulatory reviewFDA reviews all the evidence
6. 6ApprovalDoctors can prescribe; safety tracking continues

This often takes 10 years or more. Families help speed it up by joining registries and natural history studies early. See the latest on our Clinical Trials page, in Q2 Quick Notes, and in the FDA’s drug development guide.

Joining a study is a personal decision, and it’s harder when you’re deciding for a child. Your goals and comfort with risk may differ from your doctor’s, or even from other family members’. That’s okay. Start with your goals, then ask these five questions.

Bring these questions to your consent meeting: HHS Questions to Ask (English PDF) · Spanish PDF. Examples of participant bills of rights: UCLA and the NIH Clinical Center.