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Jennifer McNary

Jennifer McNary

Jenn McNary is a trusted voice in the rare disease community, as a mother, public speaker and fierce advocate. Jenn has unique experience in the drug development field, as a parent of children enrolled in the clinical trials, an advocate engaging with the regulators and as a consultant helping to develop programing for patients. Currently, Jenn is consulting in the biotechnology space with an expertise in caregiver/patient engagement, including bringing the patient voice to drug development and solving barriers to access. Her other activities include serving as the Founder of One Rare, a non-profit formed to meet the needs of young adults with rare and chronic conditions and raising her four children in Massachusetts.

Recent posts by Jennifer McNary

3 min read

Luck Fupus: Life with lupus is not a cakewalk

By Jennifer McNary on Oct 19, 2020 7:04:42 PM

One of the most exciting parts about being a patient advocate is the chance to connect with fellow advocates. MarlaJan Wexler, a well-known lupus advocate and superhero, was kind enough to virtually sit down with us to share her story.

In the beginning….

Though lupus is often called an invisible disease, 39 year old pediatric cardiology nurse MarlaJan Wexler is an incredibly visible Lupus advocate. 

She was diagnosed with Lupus in 2008 at the age of 27 though she suspects her symptoms began much earlier. She went to her PCP for occasional joint pain, rashes and fatigue, but chalked them up to being a hard-charging nursing student who also worked full-time and partied a bit too much (hello, early twenties!); didn’t eat healthy; or sleep enough. 

It wasn’t until after MarlaJan’s honeymoon that it became apparent too much sun and fun had kicked off what turned out to be her first Lupus flare. UV light can trigger disease activity, and she became very sick mere weeks after returning from her honeymoon.

“My body literally rejected my marriage,” MarlaJan laughs as she describes her divorce foreshadowing the future. Unfortunately, after this initial flare and eventually being diagnosed, she realized Lupus was a real disease and she needed to take it seriously. 

Becoming an advocate 

The first time MarlaJan felt a sense of connection to another patient with Lupus was when a woman read her blog online and reached out from across the ocean. She had decided to put herself out there in hopes people would read her story. 

“Everything I was putting out there was how she felt and she just thanked me. Even if that was just one person, it made a difference and made her feel like she wasn’t the only person facing this.“ MarlaJan says after this, everything snowballed. She created various social media pages and founded her advocacy organization, Luck Fupus to make sure there was reputable data from reliable sources for those with Lupus

In 2014, MarlaJan won the WEGO Health Hilarious Health Advocate award, ultimately finding her place on stage sharing her story and in the broader patient community. “I felt completely isolated my whole life…and then (through this award process) I’ve connected with so many people with a smorgasbord of various diseases.” She went on to say, "As much as being sick sucks, it took me down this path that I never knew existed and that I never would have thought for myself."

 

MarlaJanWW

MarlaJan’s Mission

Now that MarlaJan is firmly entrenched in the advocacy space, she uses her platform to connect with other patients. She’s especially passionate about the need for consideration of women's reproductive choices before starting on a therapy that may limit the ability to have children safely in the future. When a patient is first diagnosed, she recommends all patients prescribed immunosuppressive therapy talk with their care team about their fertility risks and options. Similarly, MarlaJan is passionate about ensuring that all patients have access to relevant and reputable sources of medical information so they can make better informed choices about their care. 

MarlaJan’s Call to Action

In today's climate where several Lupus medications are being viewed as potential therapies for COVID, MarlaJan knows all too well that some patients are dealing with an additional, unforeseen complication: limited access to the lifesaving medications they so often depend upon. “Regardless of the fact that hydroxychloroquine has been found to not be beneficial in the treatment of COVID, many [Lupus patients] people are still having so much trouble getting their medications.” 

Access issues aside, MarlaJan also wants the broader community to know that more voices are needed in the Lupus community. “There are 1.5 million Americans living with it [Lupus] and over 5 million people in the world living with it. It’s not a rare disease. We need more voices.” 

At this point in the interview, one of MarlaJan’s two cats, Professor Puddin’ Pop, made an unexpected cameo. We would be remiss if we neglected to mention the earlier cameo by MarlaJan’s other cat, Dunkin Nonuts, a charming and spirited tabby. 

If, like us, you can’t get enough of MarlaJan’s story and message, check out her blog, https://www.luckfupus.com/ 

For more information about Lupus and resources for those living with Lupus, check out these links;

Topics: LupusAwareness
6 min read

Lessons from a Pandemic: Quarantine is a Gift and Medical Testing is Love

By Jennifer McNary on Sep 29, 2020 5:21:37 PM

SMA Awareness

Ask just about anyone across the globe what was the worst thing to happen to them in 2020 and they will concede it was Covid-19. Medable Patient Advisory Council member Khrystal Davis doesn’t see things the way most of us do. For her and her family, the Covid-forced quarantine means more time together with her husband and five children. 

Khrystal learned, startlingly, the value of time with family in 2011 when her youngest baby was diagnosed with Type 1 spinal muscular atrophy (SMA), a genetic neuromuscular disease characterized by weakness of the skeletal and respiratory muscles. SMA is a rare disorder occurring approximately one in 11,000 births, and about eight million Americans are genetic carriers. It robs children of strength by affecting the motor nerve cells in the spinal cord, and impacting their ability to walk, eat, and breathe. SMA is the leading genetic cause of death for babies.

At the time, there were no approved treatments for SMA. 

“We were shocked,” said Khrystal. “We went home with our eight-week-old son and cried all night. We let it all out, and grieved. But then we decided we were going to make the most of our time with Hunter so we took him to the zoo the very next day.”

The Davis’s did not fall apart (at least, not for long) and did not accept defeat. “The doctors told us that Hunter would lose his ability to move, swallow, and eventually, breathe. It was gut-wrenching but we decided to pack as much into his remaining time with us as we could,” added Khrystal.

Khrystal and her husband, Curtis, chose hope rather than despair and – incredibly – got to work.

“Curtis connected with an SMA researcher who had a compound that had gone through preclinical studies but it was shelved,” explained Khrystal. “We acquired the chemistry for that compound and hired a company to manufacture it. Next, we went to Mexico because Hunter didn’t have time for the regulatory rigor of the FDA. His disease was breaking down motor neurons every day.”

Eight weeks after Hunter’s diagnosis, he received his first treatment and became the first SMA patient in the world to ever be treated. 

At the time, a similar treatment was in clinical trials in the U.S. but it was unavailable to Hunter. Thanks to the 21st Century Cures Act and the FDA’s increasing regulatory flexibility with n of 1 trials, it’s becoming increasingly easier to treat patients like Hunter fast. This wasn’t possible nine years ago. 

The Davis’ flew from St. Louis to Mexico every six weeks for five years until Hunter crossed over onto an expanded access program (EAP) for a similar treatment in the U.S. shortly before its approval. Hunter responded extremely well to his treatments in Mexico and grew strong, crawling on his belly, sitting up unassisted, and was just about to start therapy for walking in a harness for the first time. Suddenly, Hunter came down with pneumonia and that would prove to be a lasting setback.

Hunter survived but the damage caused was too severe for his motor neurons to ever fully recover. 

“He was two years old and we had such hope but we would never realize the same gains that we had from the treatment as we did those first 24 months,” Khrystal said. “This is why I am now such a passionate advocate of pre-symptomatic diagnosis and treatment. If not treated right away, patients are unable to rebuild the motor neurons as they age. Once they are gone, they are gone forever.”

Today, at the age of nine, Khrystal says that Hunter is the happiest of her five children. And, as promised when he was first diagnosed, the Davis’s have packed as much living as possible into Hunter’s life, taking him all over the world including China, London, Canada, Mexico, Spain, and Portugal. He still loves to see the animals at the zoo, and – of course – is a big fan of Disney. 

Hunter is wheelchair-bound and cannot talk very easily but communicates using a device he controls by looking at a screen that ‘talks’ for him. “It was life-changing, though it has taken some time to learn how to use it,” smiled Khrystal. “Even so, he has outpaced his mother in mastering the device!”

Khrystal is now one of Texas’s leading advocates for SMA specifically and rare disease more generally. “What we learned from Hunter is that treatment approvals and research was not progressing fast enough so I reached out to a grassroots organization called Families for the Acceleration of SMA Treatments and we secured a landmark meeting with the FDA in Washington DC about the only SMA treatment in clinical trials in the U.S. called SPINRAZA. We had four requests.”

The FDA responded with overwhelming support and took fast, decisive action. By July 2016, the FDA announced that the current treatment met the primary endpoint so the placebo trial for Type 1 babies stopped and all babies crossed over on to the effective treatment. In August, the FDA and Biogen worked to launch an EAP for the treatment for Type 1 SMA patients – consisting of more than 65% of all SMA patients – under age 18 across all 12 trial sites.

On December 23, 2016, Khrystal and all SMA patients received the greatest Christmas gift: FDA approval of SPINRAZA. It was the fastest drug approval in the history of the FDA.

“Patients and their caregivers finally had new hope, so we wanted to get the information out quickly,” said Khrystal. “Various organizations worked together to educate top neurologists and spread the word through educational campaigns, social media, and various patient groups and communities.”

They thought their work was done when the FDA approved SPINRAZA but that was not the case. “We quickly learned that FDA approval doesn’t guarantee access.” FDA approval means that patients can take an approved treatment, but it doesn’t mean payers will cover it. 

Khrystal and the rest of the group have also challenged payers’ to cover SPINRAZA for SMA patients pursuant to the broad FDA label. Collaboration with regulators, researchers, doctors, biotech, and advocacy groups, she said, is crucial.  “We have witnessed the research industry and FDA come together, and the overwhelming collaborative effort that it takes to get a treatment to patients. It’s the only way we will move forward on any of our goals,” Khrystal explained.

Newborn Screening Crucial for Rare Pediatric Disease Treatment

August was SMA awareness month, and September is newborn screening awareness month. “It’s perfect that newborn screening month follows SMA awareness month. SMA is the leading genetic cause of infant mortality when left untreated. It’s a great example for the need of newborn screening.” 

Khrystal, founder and president of the Texas Rare Alliance, now works tirelessly to advocate for newborn screenings for rare diseases. “We’re revamping Texas’s newborn screen program, not just for SMA but for all rare conditions as they are included on the Recommended Uniform Screening Panel (RUSP). This is crucial to affording access to pre-symptomatic treatment and to ensure the least permanent damage is done by any of these diseases,” she added.

Through her tenacity and endless persistence, Khrystal and the Texas Rare Alliance helped secure legislation that now provides the necessary funding for newborn screening of all new conditions in Texas so doctors can automatically include a condition that raises the cost of the newborn screening and still test for it. 

“Texas is nearly RUSP-compliant, which is so vital to helping prevent the onslaught of symptoms for rare diseases on babies. It needs to be done nationwide. The rare disease community needs to come together and make all states recognize how this small step can mean all the difference,” Khrystal said. “We’re not done yet. We want to make sure Texas is RUSP-compliant, and educate our Senators, Representatives, and their health policy staff on the need for an implementation requirement. Max Bronstein helped secure an implementation requirement in California in 2016, making it the first RUSP-compliant state.” 

Khrystal now serves on the Texas Newborn Screening Advisory Committee. She also regularly speaks and advocates on the importance of strengthening newborn screening programs. Her ultimate goal is to work toward securing newborn whole genome sequencing which she believes affords an opportunity to democratize the diagnosis and eliminate the diagnostic odyssey for most rare diseases. “An important step is to provide whole genome sequencing to critically-ill NICU and PICU patients with unknown etiologies.”

Today, thanks to the relentless work and courage of so many SMA patients, advocates, doctors, and researchers, we have three FDA-approved treatments for SMA. “We had nothing less than a decade ago,” said Khrystal, “now there are three options. That’s what I want for the entire rare disease community where only 5% has even a single approved treatment.”

Khrystal is focusing her advocacy on newborn screening and the pursuit for newborn whole genome sequencing. “I believe newborn screening is crucial to treating rare pediatric conditions. Babies can be tested shortly after birth and is the key for many early-onset conditions.” 

As the Davis family learned from this gut-wrenching journey, nothing good comes from anger. They continue to struggle with physical, mental, and spiritual challenges that most cannot imagine but they haven’t stopped living as full of a life with Hunter as possible. They push forward. They choose hope. It’s not surprising, then, that as the rest of the world bemoans the temporary inconveniences thrust upon us by the pandemic, the Davis’ see good.

 

# # #

Hunter Davis is one of many patients living with rare diseases, many of which have no known cure or treatments. Medable will continue to highlight stories of patients and caregivers like the Davis family, as we encourage the industry to invest resources into rare disease research. Please follow our Patient Advisory Council via blog and LinkedIn for regular updates.

Topics: SMAawareness
7 min read

Foresight is 20/20 - Drug Development's Future

By Jennifer McNary on May 12, 2020 11:32:02 AM

COVID-19 has taken us all by storm, and as a result, much of the world has come to a grinding halt.. As you can imagine, this includes the clinical trial universe, as well. Healthcare resources are being diverted, rightfully so, to combat the pandemic. Suddenly, the world is clamoring for what many in clinical research have aspired to for years - expedited clinical trials leading to treatments to patients faster. Perhaps the coronavirus is gifting us a glimpse into the future of drug development.

Existing Trials: Adapting in Real Time

Globally, there is a pandemic unfolding, rippling across countries and targeting everyone in its path. No one - not Hollywood, athletes, politicians (or their spouses), royalty - is safe, but the eldery and the immunocompromised seem to be particularly vulnerable to the virus causing serious or life-threatening problems. Hospital systems are stressed domestically and on the verge of collapse in other parts of the world. Pharmaceutical companies are beginning to ration their resources, delaying start-up or enrollment to lessen the burden on existing healthcare sites.

For clinical trials that are able to move forward, study teams are scrambling to minimize disruption, both to get existing patients treated and maintaining the trial’s integrity in the face of an unparalleled disruption. Veer too far off course, and current and future patients suffer costly, potentially life-threatening delays. To prevent this, adjustments to standard operating procedures have to be made, whether the slow-to-adopt-change world of clinical research wants to or not.

The FDA has, very quickly, issued guidance on conducting clinical trials during this pandemic. It reads as a sort of wish-list of potential operational advances in clinical research:

  • “Since trial participants may not be able to come to the investigational site... sponsors should evaluate whether alternative methods for safety assessments (e.g., phone contact, virtual visit, alternative location for assessment, including local labs or imaging centers) could be implemented”
  • “The need to put new processes in place or to modify existing processes will vary by the protocol and local situation.”
  • “Sponsors and clinical investigators are encouraged to engage with IRBs/IEC as early as possible when urgent or emergent changes to the protocol or informed consent are anticipated…FDA recommends consultation with the appropriate review division regarding protocol modifications for the collection of efficacy endpoints, such as use of virtual assessments, delays in assessments, and alternative collection of research-specific specimens, if feasible.”
  • “The implementation of alternative processes should be consistent with the protocol to the extent possible, and sponsors and clinical investigators should document the reason for any contingency measures implemented.”
  • “Changes to policy and procedures could address, but not be limited to, impact on the informed consent process, study visits and procedures, data collection, study monitoring, adverse event reporting…”

 

Think of ways to bring the study to the patient.

Consider how to be flexible.

Engage early with stakeholders.

Accept variance will happen; proactively address, and then record why.

The notoriously reserved clinical research industry is now faced with a decision: adjust your strategy or drop out of the race altogether. Instead of resisting change, adapt and adjust. This is what the future of clinical research will look like - more agile, less rigid; more adaptable, less authoritarian; more personalization, less one-size-fits-all. Most importantly, more human.

COVID-19 Trials: The Future is Now

While existing trials struggle to find their way through this uncertain time, the barriers to clinical research have come down for COVID-19 studies. As of March 23, 2020, there were already five completed studies for COVID-19, and by the time you read this, there’s likely to be more. Notably, there are 113 studies somewhere between “Not yet recruiting” and “Active, not recruiting”, with 62 in recruiting/enrolling/active status. Considering that the World Health Organization wasn’t notified until the very end of 2019 about this new virus, and the average study start-up time is north of 7 months, the swift response to this global pandemic has been unprecedented.

Why has the COVID-19 reaction been so drastically different from “normal”? Was it the life sciences industry changing their standard operating procedures to adjust for the surge in demand for health care? Was it capitalism - and consumers - pushing for a product that a market was literally dying for? Or was it the world collectively realizing that the typical barriers to innovation were not nearly as important as getting treatments or vaccines to patients as quickly and safely as possible? And, importantly, what are we learning about the pace at which clinical research can be done?

First, the caveats - COVID-19 is unlike anything in the modern medical world, so every stakeholder in the drug development process is likely willing to bend on strict adherence to dogmatic Standard Operating Procedures. Many of the trials are for either existing compounds (eliminating the need for a Phase I study) or for diagnostics, both of which accelerate the startup timeline. Physicians and governments are desperate for ANYTHING that could help.

That being said, this is the same clinical research world that regularly regurgitates the following median numbers - seven years, $750 million+, and a success rate of 1 in 5,000, all to get one drug to market. In Duchenne Muscular Dystrophy, it took 8+ years to get exon skipping from mouse models to the approval of Exondys51, the first treatment approved in the United States for DMD. Approval for new sunscreen ingredients languishes, some for the better part of two decades. Even Merck’s hyper-accelerated timeline for Keytruda approval - less than 5 years, an unheard-of number in oncology treatment - was still glacially, frustratingly slow to those who could not access the drug.

 

The COVID 19 trials were enrolled and complete stunningly quick because:

  • Populations of patients were easily identified - this illness could affect ANY and EVERYONE, and potential cases were being brought forward on a daily basis,
  • Time was THE most critical factor; the normal back-and-forth during study start-up was plowed over with compromise,
  • Existing compounds already had safety data, thereby allowing researchers to skip time-consuming early-phase trials, and
  • Pressure was applied universally - from governments, health care facilities, and most importantly, potential patients - to get treatment.

 

The catchphrase “we are all patients” has never been more applicable, and every stakeholder in this specific development process worked collaboratively to make these trials happen, and happen quickly. Technologies already exist that facilitate all of the above FDA considerations (and a slew of new ones are appearing to specifically address COVID-19), yet adoption prior to 2020 was slow and deliberate. Now, the leadership team at Medable has been actively promoting and incorporating decentralization of trials for COVID-19, getting a trial mobile app live in Italy in under two weeks. Drive through testing has shown mobile healthcare is deployable on a large scale. Virtual trials are on the horizon. Clearly, we can do better than we were - we are now.

Key Takeaways From COVID-19

There are numerous positive things to take from the response to the current pandemic and push forward as our world slowly comes out of its hibernation.

 

The US FDA can have flexibility in standards. There remains a shortage of diagnostic tests for the detection of COVID-19. In response, the FDA allowed some labs to begin using validated tests before the regulators had finished their review. We will (hopefully) find out soon if the same acceleration will occur if and when a treatment is found; the FDA continues to work with the public and private entities researching those treatments. It is important to balance the rigorous standards for efficacy and safety with the demands for improved and accelerated healthcare.

 

Guidance that is well-crafted and useful to both patients and sponsors was able to be published in less than 30 days. Too often, this guidance is delayed. The rare disease community has been waiting over 18 months for the new rare disease drug development guidance. The FDA needs more resources to accelerate the rate of product development.

 

Embracing digital medicine and digital health tools will continue to drive healthcare modernization and mobilization, while simultaneously working to remove man-made barriers to effective and efficient clinical research practices. The world is now pilot-testing-by-necessity many of the technologies that sound great in presentations, but have been largely kept on the sidelines by risk-averse trial sponsors and sites.

 

Trial design will continue to evolve, and the use of non-traditional trials - virtual, decentralized, direct-to-patient, whatever they are called - should become more commonplace, as sponsors realize they can reach broader patient populations in more effective ways. Trials will be brought to patients, instead of the other-way-around.

 

Deadly illness is deadly illness, whether a pandemic or a fatal disease. The urgency with which we develop therapies needs to mimic the response and flexibility shown with COVID-19. Let’s not let this crisis - and the accelerated pace of research it forced - go to waste.

Topics: telemedicine decentralized trials