Community

Patients – The True First Authors of Disease

by Luna

What does it take to get attention and establish credibility as a patient community with a complex, understudied disease? For the Arachnoiditis & Chronic Meningitis Collaborative Research Network (ACMCRN), it was a scientific abstract describing information they gathered from their community of patients about living with Arachnoiditis, a debilitating condition that significantly impacts the lives of those affected. The leaders weren’t surprised by what the data said – they live with this debilitating disease themselves – but the newfound credibly with the research and medical community by speaking through a tool of science really changed their trajectory.

Lori Verton co-founded ACMCRN in 2017 to unite a professional community – inclusive of patients, healthcare providers, and researchers – to establish evidence-based clinical guidelines for the medical community to better serve people suffering from Arachnoiditis. Lori was a clinical research associate in pulmonology before becoming disabled with Arachnoiditis, likely from a botched spinal tap. The severe disabilities associated with Arachnoiditis forced her to leave her work in virology, but that certainly didn’t stop her from working: her goal now is to build a community and conduct studies. Lori felt scientific abstracts and publications were the realm of PhD researchers, but knew diversity and scale were critical elements of quality clinical research and that registry infrastructure was foundational to quality research.

“Early on, ACMCRN didn’t have a medical advisory board but I always felt that if we could get a one paper or abstract out, I might be able to prove that we were serious,” said Lori. Sadly, Lori’s trusted research partner and ACMCRN co-founder, Dr. Terri Lewis, passed away leaving Lori to push bravely forward in scientific writing alone. “Once we got an abstract out, suddenly, we had credibility. We added an epidemiologist who is an experienced PI, and two MDs to our research team who will help determine our three year research strategy,” shared Lori, with gratitude for all that Terri contributed prior to her passing. “In the meantime, we are recruiting from our international community and affiliates to build our patient registry.”

About Arachnoiditis

Arachnoiditis is not well understood, often underdiagnosed, and underrecognized by the medical community, with no cure, only treatments. Arachnoiditis can result from various factors, including invasive medical procedures and certain contrast agents. It leads to chronic pain, neurological symptoms, and a reduced quality of life for individuals and their families.

Importantly, ACMCRN wants you to recognize that Arachnoiditis is not a rare, historical disease, but a pressing health issue that continues to affect many today.  Living with Arachnoiditis poses a myriad of challenges for affected families.

Firstly, it often leads to a lack of understanding and support within the family unit, as this condition is not widely recognized. Secondly, the quest for proper medical treatment can be demanding, involving the search for physicians willing to prescribe medications like steroids and potent NSAIDs, which can carry inherent risks. Additionally, the financial burden is a significant concern, as many individuals with Arachnoiditis lose their livelihoods due to the condition. Lastly, the frustration of enduring years-long waits, if at all, for a proper diagnosis.

A Path to Legitimacy, Awareness, and Hope

Eve Blackburn is ACMCRN’s vice president of patient engagement. Eve developed severe Arachnoiditis from a spinal fusion surgery in 1996. It took over 20 years for her to get an official diagnosis.

“When I was diagnosed, there was just one doctor focused on Arachnoiditis. I don’t think Arachnoiditis is a rare disease, and I believe this registry is the final key to proving that. I’ve personally helped 20 people in just my own state get a diagnosis,” said Eve. “The research and collaborations with doctors and academics that will happen as a result of having this registry will bring hope. I’m sure we will also find synergies and interconnections across other conditions and diseases. This work brings legitimacy, awareness, and hope.”

Patients are Research Leaders

Technological disruption happens when a new piece of technology changes the way consumers, businesses, and industries operate. In the case of Luna, we want patients to disrupt the research model and take their position as lead operators.

“We are considering this big data, new research method that hadn’t been available to patient communities before. We were really limited to doing research at a university or tertiary care hospital before this technology because of IRB requirements. Now that we have the people who run trials on board, and a helpful rare disease network, we can do this with technology,” said Lori. “The Luna platform is essential for this. We are getting around the higher education requirement to drive research, especially when we have the patients already recruited.”

Now, ACMCRN has encountered a new challenge:  they need a much larger medical advisory board.

“Our epidemiologist team member has gone through the last three to five years of research articles – about 133 of them – and will be contacting the corresponding authors to join us in collaboration in the Luna research environment, in patient engagement, or maybe to join our Board. We look forward to working together on our research priorities, including the possibilities for biomarker development.”

In scientific publications, the first author position is a coveted spot. No matter how long the list of collaborating authors, the first author’s last name will be remembered, promoted, and mentioned in every future citation of the work. First author credit signifies the individual that has provided the greatest intellectual contribution. We look forward to a future where individuals like Lori and Eve – living with the disease they are also leading advocacy for – powered by disruptive technology, assume their rightful position are first authors.

Resources and More

Arachnoiditis & Chronic Meningitis Collaborative Research  Network
https://www.acmcrn.org/about-arachnoiditis

Dr. Terri Lewis Memorial Fund
https://www.acmcrn.org/terri-lewis-memorial

Click to join the ACMCRN 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

The Struggles of Our Superheroes Reveal Their Real Strength: Dr. Catalina Lopez-Correa

by Luna

Seeing our superheroes struggle can be difficult. It’s a view behind the ironworks and cladding. It’s intimate. And frightening. After all, if they too stumble and fall, what fate befalls the rest of us? But seeing that struggle is something else as well: It’s revealing. And it’s there, beneath the perfect sheen, the real strength shows.

You couldn’t create a more ideal life sciences superhero than Dr. Catalina Lopez-Correa if you tried. What makes her extraordinary is that she possesses both the “I” courageous attitude AND the “us” inclusive empathy. She advocates for diversity in research AND represents it. She’s led pioneering research efforts AND implemented innovation in practice. She promotes understanding your genetics AND was among the first to explore her entire DNA sequence. She’s worked across academia, pharma, biotech, AND nonprofits. She’s catalyzed partnerships nationally AND internationally in seven countries. Catalina is the real deal, walking the walk with an aura that’s just so incredibly human.

What happens when a superhero – the one harnessing the power of science and technology to protect the rest of us – is diagnosed with breast cancer? 

“People are watching how you are facing this. Do you want to be public about this? Do you want to show that you are Superwoman, that cancer is nothing, that you can just work through it, no big deal,” Catalina sarcastically said, “or do you want to be human and show that you are really taking care of yourself and concentrating on your health?

Image of Catalina Lopez-Correa
Dr. Catalina Lopez-Correa

At the urging of her oncologist, and with deep appreciation for the personal resources and support of her employer, Catalina decided to take a one-year medical leave and focus on herself. True to Catalina’s ambitious core, she also set goals: to use this journey – as a patient – to normalize and reduce the stigma of cancer, and try to find the positive in it.

Catalina’s decision to be public and document her cancer journey took serious contemplation. As a gay, Latina, female in science, she’s experienced her fair share of being treated differently, faced barriers in how people perceive her, AND has achieved remarkably in advancing her career and visibility as a thought leader in life sciences.

“It took me three days of thinking of posting a picture on Twitter where I felt I looked very vulnerable. Sure, people say nice things, but they also say nasty things. Putting yourself out there in a completely different light, being so vulnerable… People are sending love and that’s great, but is hard to see yourself like this. But, I believe there is a need for researchers and industry to hear the voice of the patient in different way.”

The patient journey has much room — and opportunity — for innovation. Despite “patient-centricity” being a phrase nearly every player in medicine regularly uses, Catalina described an experience of anxiety and ambiguity. Life science leaders often talk about a smooth flow from getting a diagnosis to defining the type of cancer through genomics, then treating precisely, successfully. As Catalina is experiencing now, what is shared from the podium at a conference is different than the reality.

“That period between getting diagnosed, testing for your biomarkers, and understanding what’s next is terrible,” she said. “You enter this black box where even doctor’s aren’t answering your questions. There’s a huge information gap filled with anxiety. When there is anxiety, people naturally look to any support they can find. The modern-day crowdsourcing through Facebook and elsewhere on social media can lead to its own problems,” according to Catalina. “There is a vastness of anecdotes, where everyone is just posting, and so much of it is just plain wrong.”

Catalina describes patient-centered care as care that is built with the mindset and goals of the individual as paramount. And it all begins with research.

“A big piece still missing in research is the patient perspective. We [researchers] say it and we keep on trying to incorporate it, but I think we are still doing it as a check box,” Catalina said. “But now I see it for myself – to understand the journeys (and not everyone will have the same journey), to understand and relate to the impact of the side effects, to understand the impact and variability of genomics, you simply need to know the patients much better.”

“Everyone is getting the same three markers – estrogen receptor, progesterone receptor, and HER2 receptor – to determine treatment. Now what?” Catalina said. “Where can the patient find decision-making support to understand how these amazing biomarkers and genomics are guiding treatment? How can treatment be personalized, and what does each treatment mean for prognosis, recurrence, their own goals as a person?”

Catalina embraces her cancer journey, specially the time to put herself first and experience the innovations in cancer care that she has helped pioneer. But, she is acutely aware that many women – without degrees in biosciences, financial resources, medical contacts, a supportive community, and more – will struggle from the myriad flaws in the system. She didn’t use the word but I heard it: injustice. The injustice is weighing on her.

Learn More and Follow Catalina

On X (formerly known as Twitter):
@clopezcorrea

On LinkedIn:
www.tlajfundforcomplexdisease.com

Medium:
Dr. Catalina Lopez-Correa On Her New Book, Barriers For Women In STEM, and The Power Of Mentoring

Click to join the Cancer Innovation 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

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.

Privacy and Security

Privacy-Preserving Technologies and Rights-Based Privacy Regulation Compliance

by Luna

There has been increased interest over the past decade over what to do with the growing volume of digital information collected on individuals that are potentially used or sold by companies and governments. This interest is even more heightened when health data is involved and how this data might be used in ways contrary to the interests or values of individuals. In parallel, new data protection laws have passed in many parts of the world and increasingly in several states within the United States that express the control of data privacy as a human right.

It is commonplace to merge the concepts of data privacy and security, even though each has a unique role. Data security is the step taken to prevent unauthorized access to data. A common security approach involves data encryption that requires user-specific information to decrypt the data back to its original form. Privacy-preserving technologies, or PPTs, are a newer class of technologies that support the distribution of encrypted data that can be selectively decrypted to reveal some or all of the data that is encapsulated. PPTs are especially exciting for the sharing of genomic data so that only some of the data is made available to a researcher, which presents a lower risk to the individual for subsequent data misuse.

A common data privacy policy is the right to rescind one’s consent and to have the individual’s data deleted, also known as the “right to be forgotten.”

Data privacy, in contrast to data security measures, is a set of policies that are applied to secure data. These policies typically govern the data collected, the purpose for which the data is collected, and the informed consent granted to the researcher to study the data. A common data privacy policy is the right to rescind one’s consent and to have the individual’s data deleted. This is also known as the “right to be forgotten.”

Security-based protections such as PPTs and privacy-based protections are very different in how they are implemented. With security-based approaches, data are distributed to researchers that are approved to access the data. Once access is granted, the control of the data is lost. Over time there can be many copies of the data that have been granted to multiple researchers, as shown in Figure 1A.

Figure 1A. Once permission is granted data is distributed to uncontrolled environment(s)

In contrast, privacy-based approaches maintain control of each piece of data within an environment that supports the removal of the data if an individual’s consent is withdrawn. Under the privacy-based approach, an individual has a virtual string on their data that supports the pulling back of their data at any time, as shown in Figure 1B.

Figure 1B. Use of permissive data is used within an environment that enforces privacy policies.

The question of which approach is better rests largely on the regulatory environment in which the research is being performed. In Europe, compliance with the General Data Protection Regulation, or GDPR, requires that the data rights of individuals persist when they share their sensitive personal data, such as health data. In states such as California, the California Privacy Rights Act (CPRA) that has come into law in 2023 requires similar protections for individuals. For historic datasets, databases, and biobanks that include genomic data, the use of PPTs has provided a more secure way to distribute such sensitive personal data.

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.