How the rare disease company TREND Community is turning virtual conversations into evidence
Dealing with a rare disease is a frightening experience. It’s also a lonely one. In the rare disease space, particularly ultra-rare conditions where the number of known cases can be in the double digits or lower, families don’t usually have disease foundations fighting for treatments exclusively for their condition. Specialists are hard to find, and clinical diagnoses and treatments necessitate a Sisyphean game of hits and mostly misses.
It is not unusual for parents to wait years to find out why their son or daughter starts to decline both physically and cognitively, as is the case with Batten disease. And when the diagnosis is made it often comes with a cascade of dire facts.
The virtual listener
Facebook and other digital forms of communicating have thus become a lifeline for families hunting for answers and solutions to the myriad of symptoms. Though many rare diseases are sparked by a single genetic mutation—think of them as a typo in a vast tome—the consequences of that mistake are huge and often unbearable.
The virtual world of communication, where families would drop in with stories and advice, provided Philadelphia parents Maria Picone and Chris DeFelice much-needed hope and support after their daughter was diagnosed with Prader-Willi Syndrome (PWS), a genetic disorder that can cause obesity, intellectual disability and short stature. Doctors offered the grieving couple little comfort or hope when they delivered the news. They were told their daughter would never live independently or be able to raise a family.
“We were given all the really terrible things to expect—that she would live with a cruel and insatiable hunger, that we would have to lock our kitchen,” said Maria.
The vibe was much different in the social media groups that Maria turned to for guidance. Populated by families dealing with the same condition, Maria began to regain some hope, as she learned about the diets and therapies that would change her daughter’s life.
This experience prompted Maria and Chris, who already owned a digital health web technology company, to launch TREND Community. The organization’s multi-tasking mission is to evolve technology in order to listen to and understand the symptoms that people are living with, the things that they’re doing to manage their disease, and their most pressing unmet needs. One of the ways they are accomplishing this is by developing algorithms to leverage natural language processing and customized machine learning tools sensitive to the conversations playing out daily on social media sites.
“We are doing our best to turn anecdotes from the conversations into evidence,” says Maria.
TREND’s mission soon got the attention of Blair Van Brunt, whose daughter has Shwachman-Diamond Syndrome. The rare, life threatening, inherited bone marrow failure is characterized by extremely low white blood cell counts, poor growth, food absorption difficulties and, in some cases, skeletal abnormalities. Blair’s daughter was born in 1994, when molecular genetic testing was not available. “(Doctors) pulled out a book and said to me ‘We think this is the disease, and here is what’s going to happen…She will die quite young.” By connecting with other parents with SDS children, she, too, found out there was more to the disease than in the literature.
It was a difficult road at first. Blair’s daughter needed to be given pancreatic enzymes to replace the ones she wasn’t making. She spent her first six years in and out of hospitals because she didn’t make enough white blood cells to ward off infections. Eventually, she learned to live with the cells she was producing, says Blair. Then, at age 20, she began deteriorating. This year, she underwent a bone marrow transplant this fall to replace her damaged stem cells with healthy ones.
When her daughter was younger, Blair ran the Shwachman-Diamond Syndrome Foundation for many years and helped to start the SDS registry. The idea of social listening and leveraging conversations to identify patterns appealed to her because she had been telling bits of her daughter’s story for years, with little response. “Being able to see different trends from a patient and caregiver point of view was very powerful for me,” said Blair. in 2016 Blair joined TREND Community as Director of Community Development to help more disease communities realize the potential of their everyday conversations as contributions to science.
A Narcolepsy Finding
Eventually, the data being collected by TREND reached beyond families and got the attention of researchers and pharmaceutical companies, too.
If you think about it, rare diseases and disorders are actually quite common. At least 7,000 are known and the number continues to grow as research advances. They spring from errant genes that are passed on from generation to generation or occur spontaneously. Ironically, though, the symptoms provoked by genetic disorders are not unique to the mutation. Patients with Rare Disease A may share similar symptoms to those with Rare Disease B, and within a single rare disease population individuals do not necessarily exhibit the same symptoms.
PWS, which TREND has tracked extensively, illustrates how social listening can lead to unexpected medical outcomes. The two most studied symptoms of PWS are obesity and hyperphagia (insatiable hunger). But as Maria points out, her daughter exhibited neither. “She is definitely affected on some level by those things, if that makes sense, but she can be left alone with food accessible and she can manage her own diet even in public,” says Maria. “She’s likely to always struggle to maintain a healthy weight, but she’s not obese.”
What her daughter does struggle with is sleep; so do other children with the same condition. TREND’s social listening tools confirmed this, picking up a steady drumbeat of words associated with disordered sleep, such as tired, sleepy, fatigued. To learn more about the origins of this sleep disruption, TREND teamed up with sleep specialists Daniel Glaze, MD FAASM and Ameeben Patel, DO at Texas Children’s Hospital / Baylor College of Medicine to create a code book that describes what disordered sleep looks like from a clinical perspective in the PWS population. Then they trained their search engine to look for other words like head bobbing, balance issues, narcolepsy, cataplexy and apnea. Their retrospective analysis was able to use social media to identify a range of sleep problems in a large sample size of PWS. The findings were presented at scientific conferences and showed a definite connection between PWS and narcolepsy. “You can see now where social listening is starting to get more evidence-based,” says Maria.
In another instance, TREND’s data jumpstarted efforts to help PWS patients in the US access pitolisant, a drug approved in Europe for narcolepsy. This effort began with two immunologists whose son has PWS. As the boy entered puberty, he began having near-daily sleep attacks. The couple approached TREND to help them find a way their son could try the drug.
TREND and Chion Foundation (a non-profit started by the parents of the boy) used the Food and Drug Administration’s personal importation guidance, which governs the transfer of FDA-regulated products into the US, and put together a toolkit that instructed parents how to approach the FDA for permission to access the drug. They also found a German pharmacy willing to fill the prescription and ship the drug.
TREND invited families to track their experiences on the TREND platform and initiated a case study of three children with PWS. They found that after taking the drug, the children demonstrated “decreased daytime sleepiness, including those with cataplexy, and improved cognition, as evidenced by increased processing speed and improved mental clarity. Findings appeared this year in the Journal of Pediatric Pharmacology and Therapeutics.
This year, US-based company, Harmony Biosciences, purchased the rights to market pitosolant in the US. They are now working with TREND to design a clinical trial for PWS.
While much of its attention has focused on PWS, Trend is also working with families dealing with Angelman syndrome, Congenital Rubella Syndrome, Pitt Hopkins Syndrome, Limb-Girdle Muscular Dystrophy and several other rare diseases.
“We’re elevating the patient’s voice,” says Lucy Steinert, TREND’s Chief Strategy Officer. “and we believe that the amplification of patient voice will lead to more insights that can have an impact across diseases with similar symptoms.”