Community

Standing on the Precipice — Parents of PANS/PANDAS Patients Shunned by the Medical Establishment Unite

by Luna

Alissa Johnson is a mom and an expert in public health policy. After several years working with state legislators and legislative staff on a variety of issues, Alissa started her own consulting firm, Johnson Policy Consulting, with a special interest in advancing policy solutions to promote the health and wellbeing of children and families in areas like newborn screening, heritable disorders, and insurance discrimination.

In 2019, a complex illness dramatically altered the life of her 11-year-old daughter, Louisa. In that moment, Alissa became the parent for whom she had worked to support for so many years.

“Following my professional experience, it was just astonishing for my child to become ill overnight,” Alissa said. “I had an even greater understanding and empathy for the parents who would testify to legislative committees on the horrific changes that occurred in their children that led to severe disability or death.”

Louisa, affectionately known as “Lulu” by her friends and family, was a happy, healthy, extremely social, straight A student who danced and played guitar. In second grade, Lulu had an abnormally high heart rate (tachycardia). By 6th grade, this condition progressed from being concerning to keeping her from simply walking alone in school at times, let alone running the bases in a softball game. Halfway through 6th grade, Lulu had a different body: an infection impacted her body’s ability to regulate normal functions (dysautonomia). Lulu’s heart rate swung between extremely high and extremely low, she had severe gastrointestinal issues and wasn’t eating, she had no energy, and ultimately her severe pain and difficulty swallowing led to hospitalization. Numerous tests were administered, and everything came back normal. After a week, Lulu returned home. A week later, Lulu was back in the hospital for another week. Following the second hospital stay, Alissa went to her pediatrician to address Lulu’s persistent sore throat. This test came back positive for strep throat. Just a few months later, following a flare-up of neuropsychiatric symptoms, Lulu had a diagnosis of PANDAS.

Understanding PANS/PANDAS

Pediatric Acute-Onset Neuropsychiatric Syndrome (PANS) and Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS) are conditions that often affect children, causing a sudden onset of obsessive-compulsive disorder symptoms, severe anxiety, headaches, joint pain, and other neuropsychiatric symptoms. These conditions are thought to be triggered by an immune response to infections, such as strep throat or other environmental factors. PANS/PANDAS can significantly impact a child’s life, causing challenges – often severe – in daily functioning and emotional well-being.

“I really cannot express how extremely isolating and horrific the conditions of PANS and PANDAS are,” Alissa shared. “For many of the parents, the only refuge they have is the community of other families who are going through these unbelievable life circumstances.”

While there are established guidelines for PANS/PANDAS treatment, significant barriers exist, including access to care, clinical diagnosis without a physical biomarker (although, thankfully, researchers are currently working to identify candidates), and physicians’ lack of acceptance of the condition. Without access to proper, holistic care, parents find themselves in an unpredictable cycle of reacting to health changes through hospitalizations and emergency room visits.

“Going to the emergency room with a child experiencing such a complex illness like PANS/PANDAS can be really disappointing, frustrating, and sometimes frightening. All too often, the children and the parents are treated as though they are criminals,” Alissa revealed. “There is a lack of acceptance of PANS/PANDAS which seems to stem from a lack of understanding amongst the medical community. But rather than being curious and asking, ‘How can we help this child who is clearly suffering but we don’t understand it?’ Rather than wanting to dig in and say, ‘How can we improve the life of this child and this family?’ Instead, there is a tendency to blame the child and blame the parent. When physicians resist accepting these realities, it just leads to more pain and suffering beyond the pain and suffering you are already experiencing at home. It’s excruciating.”

Parents often describe teachers, doctors, caregivers, and other authorities blaming the parents or the child for the various neuropsychiatric symptoms.

The Power of Community to Drive Research

Alissa admits that she was fortunate to have resources, domain expertise, and a network of professional connections – even within her own family – that she could leverage to access care. Even then, she faced extremely challenging circumstances.

“Most hospitals will not accept these patients. Even in some highly regarded institutions, when my daughter was in complete crisis, we were told to go home and consult with a care team,” Alissa shared. “With a child that sick, even with the resources we had, it’s very difficult to get in a car and drive two states away. For single parents, people living in rural communities, families with multiple sick kids…the situation is near impossible, and we need to help them.”

“I don’t think there is a way for anyone to truly understand how devastating the circumstances are under which the children and their families are living unless the PANS/PANDAS patient community shares that with others. The most critical people who need to understand are researchers and physicians”.

Fortunately, there are growing opportunities to unite a collective voice of the community and expand research.

“Luna and Genetic Alliance provide a unique opportunity for families to engage with researchers to share their experiences, aid in raising awareness, and advance science so that we can hopefully allow these kids to go on to live healthy lives, “ Alissa said. “The great attention to privacy protection of the information patients share is really important.”

The Road Forward

In July 2021, Lulu died at 14-years-old of complications from PANS/PANDAS. Her parents founded the Louisa Adelynn Johnson Fund for Complex Disease to support the efforts of researchers studying the conditions from which Louisa suffered, including dysautonomia/Postural Orthostatic Tachycardia Syndrome (POTS), neuroimmune disease, and other comorbidities. Subsequently, Alissa joined Amanda Peel Crowley and other parents as co-founders of the National Alliance for PANS/PANDAS Action (NAPPA), a coalition which serves as a lobbying group to increase federal funding for PANS/PANDAS research. On March 23, 2023, Amanda testified on Capitol Hill to Congress about the critical need for federal funding for PANS/PANDAS, and shared some of Lulu’s story.

“What motivates me to continue to be involved in the PANS/PANDAS community is that it’s just unconscionable that this continues to go on, and so many children are affected,” Alissa said. “There is not yet reliable epidemiological data, but we know there are a significant number of families out there and, even if there were only one, we cannot accept them being continually ignored and mistreated.”

Resources and More

Alissa Johnson​, Principal Consultant, Johnson Policy Consulting
www.policyconsult.com

The Louisa Adelynn Johnson Fund for Complex Disease
www.tlajfundforcomplexdisease.com

The National Alliance for PANS/PANDAS Action (NAPPA)
www.facebook.com/NAPPANationalAllianceforPANSPANDASAction

info@panspandasaction.org 

Click to join the PANS/PANDAS community on Luna today.

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.

Community

Leveraging Community Voice to Bring Effectiveness Back into Efficacy

by Luna

The drug development process centers on producing the desired effect, but has the process lost sight of who gets to define what the desired effect is? This got us to thinking about the difference between efficacy and effectiveness, especially in the age of calls for patient-centricity and inclusion of the patient voice.  Both terms are used in everyday language as well as technical terminology. These words are deceptively similar but, in drug development, one concerns a controlled process and environment (efficacy), while the other concerns the real world where people exist (effectiveness). Those are vastly different places, especially if you are a patient.  If a patient-centered ecosystem of individuals and advocates, pharma, and technology providers are to work inclusively in drug development, we believe it’s necessary to push for a primary focus on effectiveness so that interventions address our health priorities as we define them.

More and more entities, including regulators, biopharma companies, clinicians, policymakers, payors, and researchers, recognize the value and importance of patient reported outcomes (PROs) as an essential ingredient in developing treatments and interventions that improve people’s lives. Recently, the FDA has elevated PROs as a necessity in product validation in clinical trials and post-trials. Additionally, they have said that physical functioning MUST be measured in clinical trials. As individuals, families, and communities, it’s time to work together to ensure what is being measured aligns with what we want.

Recently, the FDA has elevated PROs as a necessity in product validation in clinical trials and post-trials. Additionally, they have said that physical functioning MUST be measured in clinical trials.

Groups can immediately act to collaborate within and across their communities and conditions to better surface and describe – quantitatively and qualitatively –common goals for treatments and overcoming the burden of disease. By preemptively establishing this – in a manner that meets the quality control and overall data rigor needed by researchers and industry to apply the information – groups can advocate for what effectiveness means to them and influence efficacy measurements.  Better yet, groups can help expand efficacy measurements beyond standard, often blunt physical measurements (e.g., reduction in number of seizures per day, increase in number of steps walked, etc.) into quality of life and other experience goals, which are increasingly becoming vital endpoints.

For example, Genetic Alliance, an organization which helps create and support advocacy groups, is launching a burden of disease study to assess the individual and population-level burden within and across diseases. The study will be administered on the Luna platform to ensure the upmost data privacy and control for all participants, and Genetic Alliance has partnered with QualityMetric, a leader in the development of validated instruments for PROs and Clinical Outcomes Assessments (COAs). The study will include QualityMetric’s SF-36v2® validated measurement instrument, a short questionnaire that measures physical functioning, bodily pain, general health, vitality, social functioning, and emotional and mental health.

Studies like this can serve to educate researchers on the burden experienced by you and people like you, drive researchers to find treatments that focus on the community’s view on critical areas of burden, identify unmet clinical needs and improper care management for your communities, and enable you to build your own custom, disease-specific surveys to the quality level required in clinical trials.

At Luna, we build technology to drive efficiency; efficiency to do the right things right the first time, and follow the fastest path to accurate answers and effective interventions for the people who need them most.

Start sharing your experiences today by joining the Cross Condition Burden of Disease study. Your experiences will form the foundation of a rigorous data set that enables researchers to focus on finding ways to ease your burden and understand the unmet medical need you and others with your disease have.
Join the Cross Condition Burden of Disease 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.

sickle cell
Community

As One Foundation Launches Study Registry for Sickle Cell Trait Carriers

by Luna

By 1986, nearly every newborn in the U.S. underwent screening for sickle cell disease, a potentially fatal and painful disease caused by a genetic mutation. A rare condition, sickle cell disease only occurs in people who inherit a faulty HBB gene from both parents. The mutation causes hemoglobin, the protein in red blood cells that carries oxygen through the body, to stick together—forming a sickle shape.

For those newborns who only have one faulty HBB gene, their parents may have received a letter from the hospital explaining their newborn has sickle cell trait. It may become a concern if they have children with another sickle cell trait carrier when they’re older, but otherwise, they should live a long and healthy life with no symptoms of sickle cell disease.

And that’s a problem, says Tomia Austin, PhD, As One Foundation’s executive director. 

“Sickle Cell Disease” by National Institutes of Health (NIH) is licensed under CC BY-NC 2.0.

Understanding sickle cell trait

Because of the lack of awareness and research, many children and young adults grow up not understanding they have sickle cell trait. In fact, in rare cases, individuals with only one HBB gene mutation can still fall ill or even die from sickle cell disease-like symptoms, especially at high altitudes, during extreme exercise, or during severe dehydration.

Devard Darling, president and founder of the As One Foundation, was inspired to create the organization after his twin brother, a college athlete, died due to complications of sickle cell trait. 

Darling asked Austin to lead the organization’s efforts to improve sickle cell trait literacy, not only for carriers and their families but also for the medical community. 

“A lot of what’s going on with sickle cell trait is just personal stories. People are living it,” Austin says. “Doctors don’t know what they don’t know about sickle cell trait. There’s not enough research being done for sickle cell disease, let alone sickle cell trait.” 

“I’m very proactive in telling potential participants that they own their data when they join the registry. Their health data belongs to them.”

Tomia Austin, PhD

In addition to educational webinars, social media, events, and outreach to other sickle cell-focused organizations, Austin says there is a high need for evidence-based programming.

Using Luna to develop a sickle cell trait registry

“I thought, ‘what if I could pull together a registry to capture all of these patient experiences with pain and symptoms’,” she says. After reaching out to Genetic Alliance in 2020, As One Foundation applied and received funding and guidance to build a registry.

The registry queries participants on pain, chronic fatigue, muscle aches, pain recovery, physical activity, and other information. Because sickle cell trait problems can occur during activities like mountain climbing and deep-sea diving, Austin says they try to capture those scenarios where the person may have had a reaction that, at the time, they may not have attributed to sickle cell trait. Gathering this self-reported data through the registry will be important to developing evidence-based results. 

Austin is currently enrolling participants in the Sickle Cell Hemoglobinopathy Pain and Symptom Registry with the goal of having it completed by the fall of 2023.  She’s already three-quarters of the way there. She’s eager to dive into the data and share the results with the sickle cell community in the hopes of generating more research interest. 

Learn about the Sickle Cell Hemoglobinopathy Pain and Symptom Registry

Have you or a loved one experienced symptoms caused by sickle cell trait? Were you told that sickle cell trait was nothing to worry about and you’d live a normal life? Share your experience through As One Foundation’s Sickle Cell Hemoglobinopathy Pain and Symptom Registry.

Research begins by knowing the right questions to ask

To help encourage participation, Austin is reaching out to collaborate with other sickle cell disease organizations. “The majority of caregivers to sickle cell disease patients are people who are living with sickle cell trait,” she says. In fact, although sickle cell disease is considered rare (1 case per 15,000 births), about one in 13 U.S. newborns with African ancestry are diagnosed with sickle cell trait. 

In addition to educating individuals on the complications of sickle cell trait, Austin is also open to talking about the historical or cultural issues when it comes to research studies in the Black communities.  

“I’m very proactive in telling potential participants that they own their data when they join the registry. Their health data belongs to them. If at any point they are not comfortable with the study, they can exit the process,” she says. “Having sensitive health information safe and secure on Luna is a benefit, as well as the fact that participants always control their own health data.” 

“I also tell them ‘This is your opportunity to have your voice heard.’”

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.

Community

A Success of Community-led Research with PXE International

by Luna

When Elizabeth Terry developed a strange rash-like condition on her neck, her mother did what most mothers would do—schedule appointments with the pediatrician, change laundry detergents, and try to determine why her child was having a reaction to an undetermined assailant. 

But it wasn’t an allergic reaction, it was a genetic condition that was later diagnosed as pseudoxanthoma elasticum (PXE), a genetic, slow-progressive disorder that affects the connective soft tissue of the body, causing loose, wrinkly skin. It can eventually result in vision loss and heart disease. 

It was only by chance that the Terry family lived a few houses down from a doctor who was familiar with the rare disease. Elizabeth’s mother, Sharon, took her to the appointment, along with Elizabeth’s younger brother Ian, in the hopes that he could make an accurate diagnosis. “Pseudoxanthoma elasticum,” he said, and then he glanced at Ian. “And he has it, too.” A biopsy confirmed the diagnosis.

An official diagnosis of PXE

With an official diagnosis, Sharon and her husband, Patrick, could look for research to understand the disease better, as well as doctors and treatments. Unfortunately, the research at the time predicted the siblings would soon succumb to the illness. 

“My mom and dad remember the Christmas of 1994 as the worst year of their lives because they thought both of their kids were dying,” Ian said. “Elizabeth and I remember that Christmas as the best of our lives because we got all the presents we could ask for.”

“She didn’t want other people to go through the fear that they went through…believing their kids were dying based on research that’s not remotely accurate.”

IAN TERRY

Over time, Patrick and Sharon decided that if the research on PXE wasn’t accurate, they would help mobilize patients, families, and researchers to increase understanding of the disease. The couple founded PXE International to accelerate research for treatment.

“She didn’t want other people to go through the fear that they went through,” Ian said. “Believing their kids were dying based on research that’s not remotely accurate.”

A model of shared research and advocacy 

The organization contacted a researcher at Jefferson Medical College to share their vision—a patient registry led by the advocacy group that would conduct research. 

“He kind of laughed and said, ‘Yeah, sure, bring me 400 people, and we can start the research.’” Ian said. It was a seemingly tall order for such a rare disease. “A year later, they had put together a group with about 2,000 to 3,000 people who had PXE.”

After growing up at PXE patient conferences and meeting others with the disease, Ian said it was a natural extension of his upbringing that he would move into advocacy himself. Now the senior user experience researcher for Luna, he is also invested in the collaborative work between Luna and PXE International.  

Learn about the PXE International Registry

The PXE International Patient Registry is the best way to provide experiences for studying pseudoxanthoma elasticum.

Research begins by knowing the right questions to ask

“Currently, the PXE study has more than 1,000 participants, and we’ve recently completed a biomarker study on Luna,” he says, contemplating how far the community-led research of the organization has progressed since its founding.  

“In the early days, PXE International conducted a study that was entirely in-person,” Ian says. “We’ve gone from filling out forms to registering 1,000 people on Luna and publishing our research soon, in a matter of months.”

One of the insights that have come to light through the registry is the appearance of modifier genes in PXE. The disease is defined by mutations in the ABCC6 gene, but the registry is finding some patients instead have mutations in the ENPP1 gene, as well as others.

“All of this interesting information we’ve been finding with Luna has previously been obscured this whole time because researchers haven’t been asking the right questions. You only get answers to the questions you know to ask.”

Sharon Terry explains it simply as a way to find answers more easily. “There is a popular cartoon of a person searching for their keys under a lamp post. The keys are right outside the circle of light. Luna allows PXE International to look where the keys are, rather than where the place that the light is already illuminating. If we know how to ask the right questions, we can get to the answers. Luna unleashes our power to ask the right questions and get to solutions faster and less expensive.”

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.

infertility
Community

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

by 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. 

Learn more about the RPL Community Registry and join the community

“Together We Can Change the Story”

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.