Discovery

KCNT1 Epilepsy Foundation, LunaPBC, and Genetic Alliance to Launch Patient-Led Discovery Program

by Luna

Program incorporates patient-driven study to inform research and drug development for KCNT1-related epilepsy.

SAN DIEGO and WASHINGTON, May 26, 2020 /PRNewswire/ — The KCNT1 Epilepsy Foundation, LunaPBC, and Genetic Alliance today announced a program to assemble a patient-led drug discovery community to study disease etiology and develop therapeutic interventions for patients with KCNT1-related epilepsy. The program is being launched in collaboration with Biogen, Inc.

The comprehensive program — inclusive of patients and families, patient advocates, patient-centric data stewardship, and pharmaceutical partners — is deploying patient-driven trial design to ensure the best clinical and behavioral features and trial endpoints are incorporated in the drug discovery process.

In a program kick-off meeting held in Washington, D.C., prior to the coronavirus pandemic, the organizations aligned around a number of key activities and, led by the KCNT1 Epilepsy Foundation along with patients and their families, began enrollment in the discovery community.

Epilepsy of infancy with migrating focal seizures was first described in 1995. Fifteen years later, KCNT1 gene mutations were identified as the major disease-causing gene of this condition. The data on this condition associated with KCNT1 mutations are heterogeneous and many questions remain unanswered including prognosis and the long-term outcome(s) especially regarding epilepsy, neurological and developmental status and the presence of microcephaly.

The program is focused on reshaping the role and experience of study participants by inviting patients and advocates as partners to help with program inception. This format helps guide researchers towards 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. As covered in MedCity News, this study framework also enables patients to participate without leaving the comfort and safety of their home thereby reducing the hardship on families, increasing access to more participants, and allowing the healthcare system to focus on COVID-19.

“The KCNT1 Epilepsy Foundation is forming a research community, founded on the fact that we parents have a lived-experience of this disease that must inform the research,” said Seth Greenblot, who founded the KCNT1 Epilepsy Foundation. “We are calling on all parents and their families to join us to accelerate the quest to alleviate our suffering.”

“Genomics data will be studied alongside longitudinal, patient-reported and real-world information to gain a clearer picture of the patient experience and ultimately better characterize the disease. Modern data stewardship is a key aspect of this process to ensure data is always increasing in depth over time and so that many collaborators can access the data for discovery,” said Dawn Barry, president and co-founder of LunaPBC, the management company behind health data sharing platform, LunaDNA.

“By incorporating what the patients see as important endpoints, observations, and quality of life goals, trials will better address the needs of these families,” said Sharon Terry, chief executive officer and president of Genetic Alliance. “I’ve been concerned that ‘patient-centric’ is becoming a buzzword, and not a reality. This collaboration is an exemplar for making it happen.”

TO JOIN AND HELP ACCELERATE DISCOVERY, VISIT KCNT1EPILEPSY.ORG To determine eligibility

LEARN MORE

About KCNT1 Epilepsy Foundation
The KCNT1 Epilepsy Foundation aims to provide accurate information for parents and physicians about KCNT1 Epilepsy disease mechanisms, symptoms and treatment options.  We are learning new things all the time, and work closely with researchers and clinicians to provide the most up-to-date information possible. Additionally, the Foundation works to bring the parent-patient perspective to researchers and industry as they work to bring clinical treatments to market.

About Genetic Alliance
Genetic Alliance, a non-profit organization founded in 1986, is a leader in deploying high tech and high touch programs for individuals, families and communities to transform health systems by being responsive to the real needs of people in their quest for health. The alliance is comprised of 10,000 organizations, 1,200 of which are disease and patient advocacy foundations and include community health programs, employee wellness programs, local nonprofits, religious institutions, and community-specific programs to grow and expand their reach and mission.

About LunaDNA
LunaDNA is the first health and genomic data platform owned by its community of personal health information donors. LunaDNA empowers individuals to share their health data for medical and quality of life research. As community owners in the LunaDNA platform, members share in the value created from health discoveries and medical breakthroughs. LunaDNA was created by the privately-owned Public Benefit Corporation, LunaPBC, founded in 2017 and headquartered in San Diego, California. The LunaPBC team, investors, and advisors are renowned in the patient-advocacy, health, and science fields, including several former chief executives of Illumina, industry academics, and financial executives.

The KCNT1 Epilepsy program page can be found at learn.lunadna.com/kcnt1.

For media inquiries, please contact media@lunadna.com.

Pharmacogenomics and FDA Regulations
Discovery

Here’s How Pharmacogenomics Is Changing Medicine For The Better

by Luna

There are currently more than 40 drugs approved to treat depression. For many patients, it can be an experience in trial and error to determine what drug or combination works the best with the fewest side effects.

In an ideal situation, your genetic profile could inform your doctor the best drug, along with the best dose. The good news is that this scenario is a growing and exciting field of research called pharmacogenomics. 

Pharmacogenomics describes how your genetic make-up could affect your response to certain drugs. This relatively new field combines the study of pharmacology with genomics, allowing researchers and clinicians to understand how individual genetics can be used to determine the best treatment in regards to efficacy, safety and other factors. Pharmacogenomics has found uses in cardiology, psychiatry, and oncology, among other therapeutic areas.

There are nearly 400 drugs approved by the U.S. Food and Drug Administration (FDA) that use pharmacogenomics in prescribing. In addition, there are non-human genetic biomarkers, including those found in your microbiome, that can affect how your body reacts to drugs like antibiotics.

One example of using pharmacogenomics in treatment is the use of CYP2D6, an enzyme metabolized in the liver. There are over 100 variations of this enzyme, with many dependent on ethnicity, that can affect toxicity and efficacy. For example, drugs that treat high blood pressure and depression can be personalized dependent on CYP2D6 pharmacogenetics, such as the dose, response and toxicity risk. It can also affect the efficacy of the breast cancer drug tamoxifen and the body’s metabolizing of codeine to morphine.

Psychiatry is one field where pharmacogenomics is gaining increasing attention. The Clinical Pharmacogenetics Implementation Consortium recommends clinicians not prescribe certain drugs to patients who carry variations of CYP2D6 or CYP2C19 associated with rapid or slow metabolism of these drugs. However, few clinical guidelines exist on when and how to provide patients genetic testing to determine if they carry these variations. It’s estimated that at least 8% of patients would benefit from this type of testing. However, research is still ongoing, and the relationship between these genetic variations and the effectiveness of antidepressants has not been confirmed.

While this medical information is useful when clinicians are prescribing medicine for their patients, direct-to-consumer genetic testing companies are now providing pharmacogenomic results directly to individuals.

In late 2018, the FDA approved the first commercial pharmacogenomics test, however, it cautioned that the test is not intended to provide information on an individual’s response to a specific medication or be used to make treatment decisions. Almost immediately, the FDA issued a statement on direct-to-consumer genetic tests that provide pharmacogenomic results, essentially recommending against changing treatment decisions based on results from these types of genetic tests.

The FDA is now looking at regulating consumer companies in this field, especially as more and more companies provide pharmacogenomic results in their client reports. The federal agency is concerned that as this field grows, patients may receive inaccurate or incomplete results that lead them to make poor or even harmful treatment decisions. In April, the FDA issued a warning letter to one company it said was illegally marketing its pharmacogenomics test to the public. 

“We are particularly concerned about pharmacogenetic tests that claim to predict patients’ responses to specific medications where such claims have not been established and are not described in the drug labeling and continue to warn patients and health care professionals that they should not rely on these tests for treatment decisions, ”said Dr. Jeff Shuren, director of the FDA’s Center for Devices and Radiological Health, in a recent press release from the FDA.

Similar to releasing genetic results without the nuances of a genetics counselor to help interpret the results, the agency is concerned patients will make treatment decisions based on tests that could be inaccurate.

However, several groups are questioning the FDA’s recent actions. 

Four mental health advocacy  groups recently sent a joint letter to the FDA citing that this recent decision could impede innovation and inflict harm on patients. Health care providers and patients, they say, should have all of the information, tools and resources to advocate for the best treatments for themselves. In addition, the American Clinical Laboratory Association issued a letter to the FDA, sharing that the recent restrictions could increase medical costs and impact care.

While the use of marketing pharmacogenomics is being debated, the obvious answer is the need for more confirmatory research where pharmacogenomics is being used in clinical decisions. That’s where LunaDNA can help. 

Individuals who securely and privately share their genetic results in the LunaDNA platform can contribute to research, which may include pharmacogenomic. Users can be rewarded for their participation in crowd-sourcing science, while helping to advance discoveries in this field.

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 Ideas Emerge in Alzheimers
Discovery

New Ideas Emerge in Alzheimer’s Research

by Luna

Take a look at any recent major news publication. Information about the latest scientific discovery or technological advancements can be found in nearly every issue.

Yet for a disease that currently affects over 5 million Americans and is projected to affect almost 14 million by 2050, shockingly little progress has been made toward effective treatment, let alone a cure. Alzheimer’s disease has perpetually puzzled researchers and healthcare providers alike, leaving the millions of people affected by the disease to wonder if there is any hope. 

Alzheimer’s disease (AD) is a multifactorial condition. This means no one single cause is responsible for development of the disease. While there are clearly both genetic and environmental contributions, the specific cause or tipping point likely varies from person to person. This fact alone makes identifying a silver bullet treatment plan very difficult. How do you effectively target a disease with a single treatment if the disease has multiple and varying causes? Additionally, AD can be challenging to diagnose, especially in the early stages of disease when available treatments may be the most beneficial. Many dementias look similar, although their underlying causes may vary dramatically. The lack of apparent progress towards treatments to slow progression and a prevention or cure could certainly be attributed to this combination of factors, at least in part.

Why is there not a cure for Alzheimer’s yet?

Although diagnosis and treatment of AD face a variety of challenges, there has been a significant amount of research focused on potential treatments and possible cures. 

Researchers were confident a treatment would be identified within mere decades. Unfortunately, the research performed, and subsequently published, all centered around the single, prevailing theory that beta-amyloid accumulation was the target. A recent investigative report published by STAT described how research that explored ideas outside this commonly held belief was discounted, unpublished and in some cases ended the careers of researchers desperate to find answers. Opportunities for novel discoveries, breakthroughs and unpopular hypothesizes rarely emerged due to this tunnel vision within the AD-research landscape. 

But can the lack of AD treatment or cures be solely placed on the shoulders of research suppression? Likely no. Funding for AD research has historically been significantly lower than many other common diseases. Until recently, National Institutes of Health (NIH) budgeting provided less than $500 million for research focused on AD and other dementias. In comparison, funding for AIDS research neared $3 billion and cancer research received more than nearly
$5 billion in funding. 

The funding disparity is fortunately lessening as significant increases in the NIH budget for AD have been made in recent years. Community-supported fundraising campaigns like the annual Walk to End Alzheimer’s are also a growing source of not only fundraising, but awareness of the disease. 

In light of these recent advances, it is easy to see how the combination of novel research suppression with lack of funding certainly contributed to the absence of significant discoveries over the past several decades. 

New ideas emerge in Alzheimer’s research

Fortunately, research focusing on different treatment targets is beginning to emerge. Scientists are now recognized and supported for their work around ideas that years ago would have been ignored at best, stifled at worst. Currently, there is early-stage research evaluating exciting and promising ideas, such as the use of vaccines to aid in prevention and gene therapy to help alleviate symptoms. And data collection focused on the variety of potential risk factors can also be used in a more person-centered way given the recent advances in daily health monitoring tools. 

Similarly, while there is limited scientific evidence, researchers continue to explore links between herbs with anti-inflammatory and antioxidant properties like turmeric on disease prevention and progression. 

Yet more is needed for research, and the missing piece may just be you. You as the patient. You as the caregiver. You as the unaffected. You can help advance discoveries in Alzheimer’s disease.

Dawn Barry, Board Chair of the Alzheimer’s Association San Diego/Imperial Chapter and LunaPBC™ Co-Founder and President explains “we must start getting everyone involved in research. Not just people affected but everyone in the ecosystem.” This is why LunaDNA is so passionate about providing you a safe and trusted place to partner with researchers.

“Your data is never sold to third parties and you always have the option of ‘unsharing’ your information,” Barry says. LunaDNA™ also provides a way to overcome the challenge of retrospective research, where data is only obtained after the disease has developed. Barry argues a better approach is to begin collecting information earlier, as “we have the best chance of finding markers if we begin to study and track health before disease onset happens.” 

Without people who are willing to participate, research would simply not exist. If you or someone you love is affected with AD, consider if research participation is right for you. 

The combination of increased patient and community participation, funding and the scientific community’s acceptance of a wider variety of research ideas is promising. Many are optimistic this combination of factors will finally move us closer to finding legitimate treatments for AD.  And perhaps these treatment breakthroughs will lead to the cure so desperately desired by the millions of people affected by AD every day.

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.