infertility

Unanswered Questions Led Recurrent Pregnancy Loss Association to Build a Community Registry with Luna

After Megan Hanson and her husband Ben decided to start their family, they were elated to find out they were pregnant after only two months of trying. Unfortunately, Megan experienced a miscarriage. After processing their grief, they tried again. And again. After experiencing six miscarriages, Megan and Ben still had no answers as to why.

“We went through all the treatments. We saw all the specialists. We got all the procedures. We took all the drugs and still ended up losing every pregnancy,” Hanson said. “We were always able to successfully get pregnant, but we just were never able to stay that way. It was heartbreaking. And when we would sit down with our care team and ask if there was anything that could be done differently that would lead them to believe the next pregnancy would be any different. They weren’t able to offer anything in terms of protocols or treatment regimens or testing.” 

Hanson started to talk to other people like her and learned more about recurrent pregnancy loss. Her research uncovered that having multiple miscarriages is a condition affecting about 2% of couples, and half of all cases have no explanation. The lack of answers and support led her and Ben to establish the Recurrent Pregnancy Loss Association (RPLA).

Bringing together those affected by recurrent pregnancy loss

“That was really our motivation for wanting to start RPLA,” Hanson said. “We both believed that when communities can come together and speak with one voice, they can be powerful partners for the medical and scientific community to move the field forward.”

Founded in 2019, RPLA is dedicated to research into causes of recurrent pregnancy loss and potential treatments, as well as to providing support and resources to those affected. Hanson also shares her story through RPLA to increase awareness of the impact of miscarriage and fertility challenges on women and families. 

“We both believed that when communities can come together and speak with one voice, they can be powerful partners for the medical and scientific community to move the field forward.”

MEGAN HANSON, CO-FOUNDER OF RECURRENT PREGNANCY LOSS ASSOCIATION

In just about a year’s time, RPLA joined the Genetic Alliance’s PEER Consortium, gathered a scientific advisory board, launched a research grant with the American Society for Reproductive Medicine Research Institute, and began to regularly provide support and information on clinical studies to their members.

Underpinning all this important work is the RPLA Community Registry, supported by the Luna platform. RPLA invites members to share their lived experiences with pregnancy loss as well as de-identified medical data for RPLA research collaborators who are examining the causes of recurrent miscarriages or treatments for recurrent pregnancy loss. The registry will continually build and become a data stream where answers to their members’ top priorities may be found.

A community of experiences

Hanson views members of RPLA not as patients, but as individuals with a shared, deeply personal experience. This individual-centered approach is a different type of advocacy, in that it brings people together who have experienced heartbreaking symptoms, have no known common disease or genetic condition, and are turning to each other for answers. 

“Recurrent pregnancy loss is unique from a diagnosis of infertility, but as a group of people who experience multiple miscarriages, the underlying causes are really varied,” she said. “It’s a pretty heterogeneous group that would experience this condition. That diversity can make research exceedingly difficult for such a small group,” Hanson said, “especially when a small population is further divided into additional subgroups.” 

She reached out to scientists and doctors to ask why it was so challenging to conduct research in this field of recurrent pregnancy loss. Over and over again, Hanson heard that the challenge was recruiting participants from an already small population for research. “They needed access to a bigger pool of information,” she said. With RPLA’s network, how could they help advance research? 

Answering the challenge of high-quality information at scale is precisely what the RPL Community Registry aims to achieve. 

Launching the RPLA Community Registry

Using the tools and platform of Genetic Alliance and Luna, RPLA is uniting individuals who have experienced multiple miscarriages into a data-sharing community where their privacy is protected and the individuals themselves control how their data is used. RLPA research collaborators “visit” the data to conduct studies. Together, they will listen for the right questions to ask, generate new hypotheses to test, as well as work to improve care, better understand why recurrent pregnancy loss happens, and determine how it can be prevented. 

“That’s what we’re really hoping for with the registry—that when we come together and pool our information and share our experiences and data, it will allow a lot more questions to be asked and ultimately answered a lot more quickly,” Hanson said.

Gathering information on demographics, health conditions, and pregnancy history is just the start. The next step is selecting research partners who can help find the right questions to ask the community. “There are so many opportunities for research and understanding of recurrent pregnancy loss that can be gained through the registry,” Hanson said. 

In addition, they also want to uncover any long-term consequences associated with multiple miscarriages. “While losing a pregnancy is difficult,” Hanson said, “it could also have a much bigger impact on women’s overall health than people realize.”

Launching a community registry quickly and with confidence using the Luna platform

“The registry is person-centered, where the participants own their data and have control over how it’s used,” Hanson said. “That was really attractive. That’s really what you want when you’re developing this type of community-led initiative. You want your community to truly have a voice.”

RPLA is currently welcoming individuals from around the world to join the registry. So far, the response has been incredible, she says. The next step is to reach out to obstetrics and gynecology offices and fertility clinics to increase awareness of the registry. Over the next several months, additional engagement opportunities and questionnaires will be launched to the community.

“Being able to regularly report back to the community on our progress and results will be really important,” she said. “Both to solidify our voice and harmonize as a group, increase engagement, and ensure people feel that they’re part of a movement that will make a difference.”

For such a young advocacy organization, RPLA has already pushed the community forward in terms of support and research. For other groups considering developing their own research questions or IT infrastructure, Hanson recommends looking for supporting organizations and technology that can get them up to speed quickly and strategically, and preserve budget for other areas that only the advocacy group can do.

“My advice is to join Genetic Alliance’s PEER Consortium and let them help you. There’s no need to recreate the wheel,” Hanson said. “Genetic Alliance and Luna already know how to do it well.”

To learn more about conducting community-led research on the Luna platform, visit Communities or contact collaborations@lunadna.com


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.

table meeting

Patient Community Provides Insights for KCNT1-Related Epilepsy Research

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.”

JUSTIN WEST, MD
CHIEF MEDICAL OFFICER, KCNT1 EPILEPSY FOUNDATION

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 collaborations@lunadna.com


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.

When Advocacy Leads Research: The Rise of Community-led Initiatives

When Dorothy Poppe began to learn about Chiari malformation and syringomyelia after her son George was diagnosed in 1991, she was surprised at the lack of high-quality evidence in the medical literature.

Chiari malformation is a rare disease in which the brain tissue extends into the spinal canal. Increased and improved imaging technology has uncovered a higher number of diagnoses in the past several years, though, making it less rare than it was once believed.

Lack of Chiari malformation research motivates advocate’s beginnings

Unfortunately, the dearth of research for Chiari malformation and syringomyelia is only marginally better today. A recent literature search identified over 5,000 publications on the topics—none of which included Level I evidence. “Chiari malformation was identified in the late 1800s and the very first randomized control trial in its study was completed just last year,” Poppe said.

Poppe, the executive director of the Bobby Jones Chiari & Syringomyelia Foundation (Bobby Jones CSF), is dedicated to raising awareness and finding treatments for Chiari malformation, syringomyelia, and related disorders.

“We knew a community-led research initiative would work, but it was just a matter of finding a way to make it happen”

DOROTHY POPPE
EXECUTIVE DIRECTOR, BOBBY JONES CSF

Creating collaborative, community-led research

Working with prominent researchers and physicians at the time, Poppe aimed to collect information about the type and severity of symptoms patients with Chiari malformation and syringomyelia were experiencing. They sent out a mailed survey to all the patients in their database. 

“The nonprofit organization I was working with at the time had a mailing list of about 1,000 patients,” she said. “We received an unprecedented 397 responses.” 

That was the first major sign that a collaborative, community-led research project was needed for this rare disease community. “Ever since then, we knew it was possible to focus research in a patient-centric way, and it’s become a driving ambition in our work,” Poppe said. “We knew a community-led research initiative would work, but it was just a matter of finding a way to make it happen.

Dorothy Poppe
Dorothy Poppe, executive director, of the Bobby Jones CSF, has been a driving force for the organization.

The organization entered the Genetic Alliance’s PEER system (People for Engaging Everyone Responsibly) through a Robert Wood Johnson grant. Poppe said that the Genetic Alliance has been a true partner, walking them through the Institutional Review Board (IRB) processes, survey building, and long-term planning.

The organization’s medical advisory board has also been helpful in combating the feeling of ‘imposter syndrome,’ keeping them on track and validating certain decisions. 

Luna provides platform to advance research in Chiari malformation

By partnering with Luna, the organization feels secure that their members’ data is safe and being used responsibly for their research, a promise that Luna co-founder Dawn Barry extended to Poppe. 

“I remember meeting Dawn Barry at Genetic Alliance’s 30-year anniversary conference, and knowing from that moment that the partnership would be mutually beneficial and forward-thinking.”

Luna harmonizes genomic data, medical data, and very importantly, the lived experience, especially for communities like Bobby Jones CSF. Good science includes representative information for people-centered discovery. That’s why we created Luna.”

DAWN BARRY
CO-FOUNDER AND PRESIDENT, LUNA

“Luna harmonizes genomic data, medical data, and very importantly, the lived experience, especially for communities like Bobby Jones CSF,” said Barry. “Good science includes representative information for people-centered discovery. That’s why we created Luna.”

The Bobby Jones CSF registry community is focused on developing hypothesis-generating studies in Chiari, syringomyelia and related disorders, specifically in areas that matter most to patients, Poppe said. “Our goal is to develop research that sparks future study that yields high-quality Level I evidence. Ideally, the registry will also actively participate in and contribute to those future studies in a meaningful way.”

Part of their research includes questions important to patients with Chiari malformation, but highly controversial in the neurosurgical world. 

One of those studies focuses on the so-called “5-mm rule” in Chiari malformation treatment. The 5-mm rule has come into question because it does not accurately predict symptom severity or treatment success. Current practice determines a patient to have a Chiari malformation if their cerebellar tonsils are located at 5 mm or greater below the foramen magnum, or the opening at the top of the spinal canal. Researchers hope this study can help them determine whether or not this rule has impacted the likelihood of accessing neurosurgical Chiari care over the years.

Join the “Impact of the “5-mm rule” on surgical intervention overview” study. 

Poppe offers advice to other communities interested in conducting advocacy-led research.

  • Build a solid base of support from patients, caregivers, clinicians, and researchers with whom you’re going to work before beginning. They will be a large portion of your support base. Your other base of support will grow from your work in the PEER system. 
  • Genetic Alliance and Luna will be there when things get technically difficult, but your fellow communities are there to support you in a meaningful way when you need that extra boost.

“We’re still trying to find our ‘place’ among Chiari, syringomyelia and related disorder research. For now, we’re focusing on the areas in which we can make the most impact: giving special reverence to topics that greatly affect patients and caregivers on the day-to-day.”

To learn more about conducting community-led research on the Luna platform, visit Communities or contact collaborations@lunadna.com


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.

New Patient Registry Launches Aicardi-Goutières Syndrome Research

A new patient-led drug discovery community aims to study a rare neurodevelopmental disorder called Aicardi-Goutières syndrome (AGS) and support the development of therapeutic treatments for this devastating disease.

Luna, in partnership with Aicardi-Goutières Syndrome Americas Association (AGSAA) and Genetic Alliance, is working to assemble the program in collaboration with Biogen, Inc.

Learn about the AGS Patient Registry.

The program will engage patients and their families, patient advocates, and pharmaceutical partners to create a patient-driven trial design— with patients and their parents as the stewards of their data—with the goal of incorporating the optimal clinical and behavioral features and the most desired trial endpoints in the drug discovery process. Luna’s proprietary Community-Driven Innovation technology will align families and researchers on their key priorities and needs.

Using Community-Driven Innovation technology

“Luna is excited for Biogen and AGSAA to use our Community-Driven Innovation (CDI) methodology to create an actionable, living data set that supports communities that use it,” said Dawn Barry, Luna president and co-founder. “By pairing how people think and live with empirical data, CDI can guide where to spend energy to answer people’s priorities, surface new research opportunities to develop interventions, and discover where existing products can help individuals.”

Luna’s proprietary CDI technology will align families and researchers on their key priorities and needs. The AGSAA will administer the patient registry, with input from partners in academia, the clinic, and industry.

With committed community engagement and thoughtful stewardship of our data, we will finally have what we need to tell our story and begin to write a different ending.”

DEVON CORDOVA
AGSAA VICE PRESIDENT

“Over my 26 years in advocacy, I have worked with hundreds of advocacy organizations, maybe thousands. Working with the passionate parents at AGSAA is an exciting experience for me,” said Sharon Terry, Genetic Alliance CEO. “We showed them a rocket ship, and they jumped in and took the controls. Their capacity to advance their cause faciley and quickly has both astounded and moved me. I love their passion, their savviness, and clarity of purpose. These parents will make a tremendous difference.”

New program provides power to share research

The program gives the AGS community the power to shape clinical studies that have the potential to answer their needs more quickly and efficiently. This framework, constructed from deep dives into AGS’s digital world and real-world interviews with parents and patients, helps guide researchers toward the most accurate observations and endpoints that will be built into the study design to increase participant engagement and retention, to ensure interventions meet the goals and needs of patients, to capture real-world and patient-reported insights, and to facilitate comprehensive, longitudinal study.

The framework also enables children and their parents to participate in studies from the comfort and safety of their homes, thereby reducing the hardship on families, increasing participation, and expediting research.

“This partnership represents an incredible opportunity to not only document and validate the lived experiences of families grappling with Aicardi-Goutières syndrome, but actually use these hard-won insights to shape the future of research and treatment options,” said Devon Cordova, AGSAA vice president. “With committed community engagement and thoughtful stewardship of our data, we will finally have what we need to tell our story and begin to write a different ending.”

Learn more about how to determine eligibility to participate and join the AGS study.

What is Aicardi-Goutières syndrome?

AGS primarily affects the developing brain and immune system of infants and toddlers, most often resulting in profound developmental delays, lifelong physical impairments, and persistent neurological changes. Most newborns with AGS do not display any signs or symptoms at birth but go on to develop severe brain dysfunction within the first two years of life, often after months of typical development and good health. In AGS, the body’s immune system turns on itself in a destructive way, targeting myelin, or white matter, in the brain and significantly impacting the nervous system.

Additionally, immune dysfunction associated with AGS can affect many other organs of the body, sometimes in a life-threatening manner. This can include the lungs, the liver, the heart, the skin, blood cells, and the kidneys. Because the signs and symptoms of the disorder are similar to those of a congenital viral infection, AGS is extremely difficult to diagnose.

Although rare, increasing awareness of AGS has revealed higher prevalence than previously ascertained. In order to manage severe progression and improve quality of life for affected individuals and their families, both early identification and timely access to emerging treatments are essential interventions.


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.