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.

Hands of different skin colors

What Makes Your Skin Healthy?

The health of your skin is impacted by a wide variety of factors and can have mild or dramatic effects on your daily life. By looking at individual genetics, family history, lifestyle decisions, environmental factors, and overall wellness, scientists can better understand how each of these factors impacts skin health.

Join our Skin Health Study to share research data.

As the body’s largest organ, your skin helps regulate temperature, retain fluids, and keep harmful bacteria out. In addition to the effects of aging and our own genetics, our skin is constantly battling ultraviolet radiation and pollution; undergoing cuts, abrasions, and burns; fighting off infections and inflammatory reactions; and a host of other elements.

In fact, there are more than 3,000 skin conditions known to the field of dermatology that span from life-threatening diseases such as melanoma to benign conditions like skin tags.

What can you do to keep your skin healthy?

Pay Attention to Your Body

Are they freckles or moles? How prone are you to sunburn? Does your skin react to certain allergens?

Knowing your skin can give you the best chance to take care of it. Recognizing new growths, moles, discoloration, or textures can be the first sign of a dermatological issue or a serious ailment.

For example, a symptom of diabetes is a skin condition called necrobiosis lipodica, which manifests as a shiny porcelain-like appearance that may become itchy and painful. Signs of hepatitis, liver disease and gallstones can make the skin turn a yellow hue.

Know Your Family History

Do you have family members with a history of skin cancer or psoriasis? While it’s important to keep track of major family medical details, knowing ancestry and other family history can help you prepare and advocate for certain tests and screenings for yourself. Sharing this information with your clinician can help you get access and insurance coverage for tests you may not otherwise be offered.

Consider Lifestyle and Environmental Factors

Drinking water consistently is good for your skin by keeping it hydrated. Using sunscreen protects the skin from damaging UV rays. Bad habits that can also affect your skin include poor sleep, poor diet, and smoking. Smoking can damage collagen and elastin, the fibers that give your skin strength and elasticity.

Do you live in a location that has high pollution or where it has a high amount of sunlight? Cold weather can cause the blood vessels to narrow causing skin discoloration, as well as reduced sebaceous gland secretion causing dry skin.

Your skin is incredibly delicate while also being strong and resilient. Determining all the different factors that go into making it the first line of defense while also one of the beautiful unique parts about us is what makes it special.

Understanding more about the genetics, lifestyle, environmental factors and overall health can help scientists determine their impact on skin health, progress research into skin conditions, and develop management and treatment of those conditions. 

To advance the science of skin, join the skin health study.


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.

Close-up of Young Boy

Luna and Partners Work to Accelerate Therapies for Hunter Syndrome


We believe medical studies should be done in a truly collaborative way, where people living with the disease are treated as the experts, and researchers study the information streams that reflect the true lived experiences of the families.

Advocacy organizations—the National MPS Society and Genetic Alliance—partnered with Luna to achieve this goal. In early December, we started enrolling participants in a health information-sharing and medical-discovery digital community that begins in the homes of families living with Hunter syndrome. The program is called 100 Patient Project: Unlocking MPS.

As a father of two children with a rare genetic disease, my heart goes out to families living with Hunter syndrome. We are absolutely dedicated to changing the way individuals engage with research—and how research can partner with advocacy organizations.”

Joe Beery
CEO of Luna

This program demonstrates a study framework where all parties are better served while enhancing research goals. This design ensures the clinical and behavioral features and key endpoints are incorporated into the drug discovery process. This can only happen when families—those who live daily with the disease and know the lived experience best—have a seat at the table as partners.

In conjunction with Takeda Pharmaceutical Company, this partnership will advance the understanding of Hunter syndrome and help develop therapeutic interventions for patients with this rare genetic disease.

Participants will share what matters most to them about living with Hunter syndrome. The program provides an opportunity for individuals to engage with a genetic counselor and control the use of their data throughout the study. Access to these data streams, including whole-genome sequencing (WGS), medical history, and patient-generated health data, will form the basis for discovery and development.

Developing a Family-centered Study Design

“We are excited to work with Takeda in exactly our sweet spot. It is we who know these families and their affected children the best. They look to us for support and long-term solutions,” said Terri L. Klein, CNPM, president and CEO of the National MPS Society.

Klein said the organization is happy to be an integral partner in the study, which will engage and support patients with Hunter syndrome and their families throughout the process.

The National MPS Society and Genetic Alliance play a leading role in this program to ensure a family-centered study design–one that is consistent with their needs, wants and lifestyles. The study framework will allow for patients to participate virtually, which reduces the burden on families.

Dawn Barry
president and Co-Founder of Luna

“This allows greater participation from more diverse populations, expedites study recruitment, and amplifies the statistical power for discovery—creating unique benefits for both participants and researchers,” said Sharon Terry, president and CEO of Genetic Alliance. The nonprofit advocacy organization is providing engagement and regulatory expertise for the program. For more than three decades, it has developed and deployed tools that allow families to be in charge of their health to drive research.

Understanding Hunter Syndrome

An inherited disease that occurs almost exclusively in males, Hunter syndrome, also known as Mucopolysaccharidosis type II (MPS II), is a lysosomal storage disorder. It is caused by mutations in the iduronate 2-sulfatase (IDS) gene, which affects every organ of the body.

Conducting WGS will support better understanding Hunter syndrome’s natural history, disease heterogeneity, and the contribution of IDS mutations and genetic modifiers outside of IDS to disease presentation.

More than 600 IDS disease-causing mutations have been implicated in Hunter syndrome. While some mutation types are typically associated with neuronopathic disease and cognitive impairment, single-nucleotide mutations show variable association with other disease manifestations.

Although the age of onset, disease severity, and rate of progression of Hunter syndrome varies significantly, initial symptoms usually become apparent in children from two to four years of age. There is currently no cure for this condition.

“This project exemplifies the interdependency between research and the patients and families who we hope will one day benefit from potential breakthroughs that result from the program,” said Dan Curran, M.D., Head, Rare Genetics & Hematology Therapeutic Area Unit at Takeda. “We have had the privilege of working with the National MPS Society and the global Hunter syndrome community for many years as part of our ongoing commitment to delivering novel therapies, disease education and support resources to those affected by this rare lysosomal storage disorder. We are proud to partner together to create more patient-centered discovery programs.”

To learn how Luna can help your organization bring together individuals, communities and researchers to produce powerful insights, contact us at info@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.


Feature Spotlight: Member Accounts

Making what’s important to you easier to find

We’ve made some changes to your member account. Now it’s easier for you to find your studies and see information from your communities and registries.

Member Dashboard

View tasks like “Contribute Data” ready for you to complete

Access studies you’ve joined. You can also access your studies by clicking on the “My Studies” tab

Find additional resources and information on conditions or diseases of interest to you using Disease InfoSearch

Review all the data you’ve shared and patient portal connections you’ve made by clicking on the “My Data” tab at the top of the dashboard

Access your notifications, settings, and logout from the side menu under the colored avatar in the top right of the dashboard

Community/Registry Pages

Your communities and registries each now have their own page devoted to their content. So you can easily find everything related to them all in one place.

View all the studies your community has available

Access special permissions you’ve granted your community organizers

Community/registry-specific messages on the community pages so you can see just the messages from your community or registry

Log in today to see what’s new on your dashboard

Coming Soon: More improvements to your member account are headed your way

A formal messaging center where you can more easily read all your notifications and important messages from study coordinators and community organizers

What’s Staying the Same

Luna remains focused on providing a regulatory compliant platform where you can feel good knowing your data is secure and confidential.

Log in today to see what’s new on your dashboard


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.