After his son Andrew was diagnosed with KCNT1-related epilepsy at nine months, Justin West reached out to Sharon Terry, president and founder of Genetic Alliance, with a simple question: What could he do, as a father of a child with a rare disease, to better advocate for his son and the community of families impacted by this disease? West had added his son to an existing patient registry, met other parents, but wanted to do more.

His timing couldn’t have been better. Terry had recently been contacted by a pharmaceutical team that was considering focusing on Andrew’s disease. Within a short amount of time, West became a key player in progressing research into his son’s disease by sharing data and insights. West teamed up with two other parents and is now co-founder and Chief Medical Officer of the KCNT1 Epilepsy Foundation.

Data is the currency in the rare disease community

KCNT1-related epilepsy is an ultra-rare, infant-onset seizure disorder caused by mutations in the KCNT1 gene. Some cases lead to severe seizures and encephalopathy. Children with KCNT1-related encephalopathic epilepsy typically start missing their normal developmental milestones within months of the beginning of the seizures. Many children never learn to walk or talk.

Resources and support from Genetic Alliance and a secure data platform from Luna helped the foundation elevate its advocacy work. Through data sharing, the organization could mobilize research into the disease.

“Sharon taught us a long time ago that our data is currency. It was a perspective I didn’t have before,” West said.

Pharmaceutical companies who want to treat a disease ultimately need access to patients and their data. KCNT1’s patient registry is designed so the data isn’t owned by one pharmaceutical company or researcher. Study participants can offer the data to any group “…so our kids have the greatest number of opportunities to have people research their disease and develop therapies as opposed to a single entity owning and controlling access to that data.”

The registry also reduces the redundancy and burden on families having to submit the same health data and information multiple times for each group of scientists and drug developers.

Another lesson was the valuable insight patients’ families could provide to those researchers and drug developers.

“Being a partner in research, along with owning and controlling the registry, also provides the KCNT1 Epilepsy Foundation an important seat at the research table.”


Providing practical recommendations for complex research design

“I knew nothing about epilepsy, neurology, or genetics, but I know my kid,” West said. He recounts a seminar he attended with other parents for a natural history study of the disease. “Being a partner in research, along with owning and controlling the registry, also provides the KCNT1 Epilepsy Foundation an important seat at the research table.”

When Biogen introduced plans for the first natural history study for KCNT1-related epilepsy, West was thrilled but had some concerns. Initially, the concept was to have a single clinical center in the northeast where each family would travel with their child to see a single clinician every six months for two years.

“My response right off the bat was, ‘That’s absolutely never going to happen.’ Our kids are complicated,” he said. “Andrew has 15 different medications. He travels with oxygen and a pulse oximeter. He hadn’t really left the house other than to be hospitalized during the first two years. The idea that I would put my child and all his equipment on a plane to cross the country, then drive another few hours, just made no sense.”

Because parents were at the metaphorical table, West and the KCNT1 Epilepsy Foundation could make the natural history study remote. With COVID unknowingly on the horizon, the remote aspect ultimately saved the study. If the trial had moved forward as initially imagined, it would have had “basically zero compliance,” he said. “And without a natural history study, our kids would ultimately never get to a clinical trial. It was a key moment.”

A health study that delivers lived experiences and insights

The Foundation was invited to participate in an exercise that surfaced “top concerns” for its patient population using Luna’s Community Driven Innovation methodology.

“Pharma tends to focus on really easy biomarkers or endpoints—like in our case, seizures,” West says. “But the top concerns survey showed that our No. 1 concern was development.”

He explained that if a drug were developed that only reduced seizures by a certain percentage but didn’t help children achieve a developmental milestone, parents wouldn’t be as interested. “You have to find out what’s important to us as parents. Is it our kid’s constipation or their inability to eat? Is it their inability to hydrate? I think we were very lucky we were at the research table.”

With a successful patient registry and foundation to invite research partnerships, West shares his advice for other advocates:

  • Start a foundation. A single family may mean well, but with a foundation, you will have structure, organization, and a louder concerted voice from which to be heard and drive the health priorities that are important to your community.
  • Form relationships. Reach out to the experts in the field, introduce yourself and push to get their attention. There are thousands of rare disorders, and advocates are all fighting for the same small community of researchers.
  • Learn as much as you can. Learn from the experts, those at other foundations, other parents, and other rare disease organizations.

“All we could ever hope for is to have some sort of treatment in our children’s lifetime,” West says. “I think that the first opportunity for the KCNT1 community to have a directed therapy is within reach with Biogen. Our ability to ultimately access that trial has been facilitated by getting to know and work with Genetic Alliance and Luna.”

To learn more about conducting community-led research on the Luna platform, visit Communities or contact

About Luna

Luna’s suite of tools and services connects communities with researchers to accelerate health discoveries. With participation from more than 180 countries and communities advancing causes including disease-specific, public health, environmental, and emerging interests, Luna empowers these collectives to gather a wide range of data—health records, lived experience, disease history, genomics, and more—for research.

Luna gives academia and industry everything they need from engagement with study participants to data analysis across multiple modalities using a common data model. The platform is compliant with clinical regulatory requirements and international consumer data privacy laws.

By providing privacy-protected individuals a way to continually engage, Luna transforms the traditional patient-disconnected database into a dynamic, longitudinal discovery environment where researchers, industry, and community leaders can leverage a range of tools to surface insights and trends, study disease natural history and biomarkers, and enroll in clinical studies and trials.