Case Studies
Case study 1:
Identifying an unrecognized secondary diagnosis
Overview
Prader-Willi syndrome (PWS) is a complex genetic disorder beginning in infancy that can affect appetite, metabolism, brain function, behavior, and growth. The wide range of symptoms presented in PWS—and many other rare diseases—can mask the secondary clinical features of a condition. Our partnership with the PWS community revealed an associated disease that was not previously part of its clinical description. Our evidence ultimately unlocked new opportunities for patients to have a better quality of life.
The Excessive Daytime Sleepiness (EDS) connection
Parents of children with PWS talked and shared in social media groups. “My child is sleepy.” “She passed out again in the middle of the day.” “He’s always napping.”
These parents noticed that their child’s sleepiness was peculiar, but the doctors didn’t ask about it. Should they be concerned? Was it a problem that could be fixed?
The PWS community is not unique. Not only do many rare diseases go undiagnosed for years, but once diagnosed, their syndromic nature can make it difficult to identify secondary diagnoses or more subtle features of the disease itself.
We leveraged our proprietary analytics engine Krystie™ to confirm what many parents in our community suspected:
The parents knew and spoke about it, but it was barely mentioned in the medical literature.
Our evidence translated into huge gains for the PWS community. We contributed to peer-reviewed publications that highlighted the importance of sleep in PWS. We focused the medical community and pharmaceutical sponsors on this unmet need in patients with PWS. We connected children with neurologists, and because of that connection, many were diagnosed with narcolepsy/cataplexy.
TREND was instrumental in connecting families with neurologists who treat EDS in children with PWS.
“TREND built a bridge between the PWS community, medical professionals, and the pharmaceutical side of things,” said one physician. “Identifying patient language was the first step in identifying a much larger need.”
At the time, pitolisant was only available in Europe for the treatment of adults with narcolepsy. However, because of our evidence, the PWS community was granted a personal importation of pitolisant. Children with PWS and narcolepsy/cataplexy now had access to this life-altering medication. Members of the community collected patient experience data on our platform, and these data were used by Harmony Biosciences to inform the novel clinical trial design of pitolisant for children with PWS.
Patients. Communities. Active listening. Concrete outcomes.
“TREND built a bridge between the PWS community, medical professionals, and the pharmaceutical side of things.”
—A pediatric sleep specialist
Real world impact
- More children with PWS connected with neurologists and were given a secondary diagnosis of narcolepsy/cataplexy.
- The Chion Foundation was established to identify treatment options for this underrecognized aspect of PWS.
- TREND and the Chion Foundation partnered to bring pitolisant (a therapeutic approved in Europe to treat narcolepsy) to the US-based PWS community through personal importation.
- TREND was granted a one-on-one meeting with the FDA to discuss patient experiences. The Director of the Center for Drug Evaluation and Research proposed conducting a pharmacokinetic study on pitolisant in patients with PWS through FDA personal importation.
- US-based company Harmony Biosciences used data gathered by TREND, as well as FDA feedback, to inform the novel clinical trial design of pitolisant for the treatment of PWS-related cataplexy.
- The PWS community used social insight data to receive insurance coverage for the off-label use of pitolisant.
- TREND and community partners were granted an FDA Critical Path Innovation Meeting to discuss cross-disease basket trials for the treatment of PWS-associated EDS.
- Manuscripts and white papers documenting unmet needs in PWS, pitolisant treatment, and insights from PWS caregivers were published in peer-reviewed journals. Sleep abnormalities were documented as a prominent clinical feature of PWS.
Case study 2:
Improved clinical trial design and recruitment
Overview
Creating a bridge to patients
More than 2 years after launching their phase 2 clinical trial to study WAKIX in patients with PWS, Harmony Biosciences faced significant obstacles. Recruitment was low and connecting to families who were interested in participating proved difficult.
As trusted members of the PWS community, we used social data to identify the challenges to clinical trial recruitment. We learned that many families were not aware that Harmony Biosciences would cover the cost of travel to any test site, nor did they know that the eligibility requirement of participating in a daytime sleep study had been removed. We identified several communication barriers that prevented Harmony Biosciences from reaching their recruitment goals.
Leveraging these insights, we partnered with Harmony Biosciences to form a recruitment strategy and communicated all relevant information directly to thousands of community members.
Cate McCanless, Chief Corporate Affairs Officer at Harmony Biosciences, noted that TREND’s partnership was crucial in getting the clinical trial off the ground. “TREND created a much-needed bridge between patients and our organization. We needed a partner that already had the element of familiarity. Someone who understood the challenges of the community and could clearly communicate to patients and families what they could expect. What they provide is truly a concierge service.”
With the instrumental help of TREND, Harmony Biosciences met their enrollment requirements early and were able to follow through with their study on schedule. Harmony Biosciences continues to evaluate WAKIX in pediatric patients with PWS in this phase 2 study.
“We needed a partner that already had the element of familiarity… What they provide is truly a concierge service.”
—Cate McCanless,
Chief Corporate Affairs Officer at Harmony Biosciences
Real world impact
- Our technology allowed the PWS community to track their experiences with WAKIX. Social listening tools revealed initial success with the therapy, providing Harmony Biosciences with evidence for a second indication.
- We connected Harmony Biosciences with sleep specialists at Texas Children’s Hospital/Baylor College of Medicine. We served as a liaison between Harmony Biosciences and families who, with our help, carefully tracked their experiences with WAKIX.
- Real-world insights from these families helped to inform research in a peer-reviewed study published in the Journal of Pediatric Pharmacology and Therapeutics. This was the first time that sleep abnormalities were documented as a prominent clinical feature of PWS.
- Harmony Biosciences used patient insights to develop unique protocols to study the safety and tolerability of WAKIX in children with PWS, while concurrently designing a broader study to determine the efficacy of the medication in people with PWS.
- Harmony Biosciences leveraged our deep connection with the PWS community to reach families who had already expressed concen abot sleepiness in PWS, accelerating clinical trial recruitment.
- Harmony Biosciences continues to explore their treatment in pediatric patients with PWS in a phase 2 study. Their early connection with the PWS patient community accelerated clinical trial recruitment.
Case study 3:
Credibility through evidence
Overview
Hypoxic ischemic encephalopathy (HIE) is brain dysfunction that occurs when the brain does not receive enough oxygen or blood flow for a period of time, resulting in a range of symptoms including seizures and organ damage. This can happen prior to birth, during birth, or during childhood. In 2019, the advocacy group Hope for HIE asked TREND to analyze seven years’ worth of real-world conversation data from Facebook. TREND’s insights kickstarted a new era for Hope for HIE as an organization.
Opening doors
Hope for HIE started as a Facebook group in 2010 and was confirmed as a nonprofit organization in 2014. Around this time, Betsy Pilon, Executive Director, reflected that the medical community approached their organization with a certain degree of skepticism. “Many organizations start and fail,” she noted. “The hesitancy from the medical community was definitely a barrier to connection.” Six years later, Ms. Pilon was referred to TREND by a parent in the HIE community to analyze the collective Facebook interactions of their community. Soon, everything changed.
The community voice report uncovered a community lexicon, strategies for disease management and burden, and areas of community interest, including initial injuries that result in HIE, seizures, and epilepsy. The analysis gave Hope for HIE a credible tool to foster conversations, leading to a significant increase in visibility for the organization and meaningful collaborations with researchers and clinicians.
“The community voice report opened so many doors for us,” Ms. Pilon explained. “When we said we had a cohort of 4500 families—bigger than any cohort that has ever been studied in HIE—it really helped people understand the breadth and reach of our organization. To have data analysis with charts and graphs to support what so many of our community members already knew was a pivotal part of our growth.”
Following the release of the community voice report, Hope for HIE was able to present at conferences, contribute to published journals, get involved with the Neonatal Seizure Registry, organize educational events with renowned physicians, and ultimately connect families to better resources.
“The community voice report helped us evolve from a Facebook group to a respected organization that is making a real difference in the HIE community,” Ms. Pilon reflected. “It has been a game changer in our organizational growth, on our path to fulfill our mission.”
“The community voice report helped us evolve from a Facebook group to a respected organization that is making a real difference in the HIE community.”
—Betsy Pilon,
Executive Director
Real world impact
- Hope for HIE’s wealth of patient-based evidence enabled us to identify predominant diseases burdens, management strategies, and unmet needs of the HIE community.
- Hope for HIE shared the community voice report with the larger HIE community, attracting the attentions of physicians, pharmaceutical companies, and the FDA.
- Hope for HIE partnered with a clinical stage rare disease company to ensure that the study design and core outcome measures for clinical trials aligned with what is most important to the HIE community.
- Neurology Social Services Network selected Hope for HIE as a pilot partner to fill a gap reported by families in the Child Neurology Foundation’s network.
- HIE medical specialists connected with families through educational events organized by Hope for HIE.
Beyond these case studies, there’s plenty more real-world evidence in action.