Checkup time: How ResearchKit is being used to study rare diseases

Back in March 2015 when Apple announced ResearchKit, the Apple Watch was still a rumor. The idea was to leverage the power and popularity of the iPhone to give researchers a revolutionary new way to conduct medical studies. Rather than going out and finding people, heavily relying on folks geographically close to a specific university's research center, everyone with an iPhone was a potential patient for this grand experiment.

However, now the Apple Watch is here. More and more people are strapping things to their wrist and, because of it, are creating a vast amount of health-related data for potential research studies to use to learn about various diseases and health conditions. With Apple's WWDC just around the corner, and surely some kind of update on the ResearchKit platform due, we can't help but wonder how far ResearchKit studies have come - and where they're going.

Essential reading: Everything you need to know about ResearchKit

You could just look at the arc of Sage Bionetworks, which teamed up with Apple to create much of the ResearchKit code base. Sage is now involved in 16 different ResearchKit studies, making it one of the biggest non-Apple forces behind the effort. Some of these initial studies, like Parkinson's study mPower, are heavily reliant on the iPhone, even if it might make more sense to use a wearable in the future. For example, mPower uses the iPhone's gyroscope and other features to measure the dexterity, gait, memory and balance of Parkinson's patients.

The rest of these initial studies, like Sage's Mole Mapper Melanoma study, are survey based and are all about asking patients to keep track of their information, answer questions about their affliction and logging it into an app. It's just easier to do survey-based studies on a smartphone, and the data-based studies weren't built for a world where Apple Watch existed.

But that's changing. Lara Mangravite, president of Sage, tells Wareable researchers are trending toward using wearables in their studies since the opportunity to collect quantitative data is so great. In fact, Sage is currently developing its own ResearchKit study that uses the Apple Watch.

The big advantage of wearable-based studies, and why researchers are trending in that direction, is because they can enable more studies based on actual data, rather than just survey data-based studies rather than surveys. "You can ask how much exercise they get in a week, or you can quantitate that with a wearable. The second is just much richer data."

The Apple Watch studies

There are already a couple of studies that are built around using the Apple Watch to focus on health conditions. The American Apnea Sleep Association and University of California San Diego's SleepHealth app uses sensors in the Apple Watch to test your daytime alertness, letting you know how good your sleep quality is.

There's also EpiWatch from Johns Hopkins University, which uses an Apple Watch complication. When a participate senses a seizure coming on, they tap the complication and activate the app. EpiWatch uses the Apple Watch's accelerometer and heart rate monitor to track the seizure while also sending an alert to your family member.

Read next: What you need to know about CareKit

More recently, there's been Cardiogram from the University of California San Francisco. The study recently found that the Apple Watch could accurately detect the most common abnormal heart rhythm, atrial fibrillation, with 97% accuracy. Atrial fibrillation causes one in four strokes, so being able to identify the condition with accuracy is incredibly important.

All three of these studies were built to take advantage of sensors only a wearable could properly utilize. These studies are also more recent, built up in a world where Apple Watch exists.

These Apple Watch-reliant studies are few and far between, however, and many other ResearchKit studies are only beginning to integrate Apple's wearable. Two of these are the University of North Carolina's Postpartum Depression ACT app and Columbia University's Citizen Endo.

UNC's app initially started as a way to reach out to as many mothers as possible. "We wanted something that would be outside the usual procedure, where you have to recruit people that have to come to you and you end up with - in many ways - a very limited geographic restriction," Samantha Brody-Meltzer, director of the perinatal psychiatry program at UNC, tells Wareable.

The app basically let women consent to being a part of the study, and when they did that they would receive spit kits to test their DNA, which allows researchers to find out if there's a genetic disposition to postpartum depression. Many of the participants actually use the feedback from the app whenever they go to a doctor, and integrating the Apple Watch may personalize that experience further.

Brody-Meltzer tells us UNC is currently piloting an Apple Watch version of the study with 24 women at the university. Essentially, the Watch would allow researchers to understand how patients contract symptoms in real time, and would even integrate with CareKit, another Apple health platform that's focused on connecting patients and their symptoms to doctors. "This helps to increase the way patients understand what they're experiencing, how that's communicated to clinicians, how you can develop a personalized medicine approach to treatment," she says.

Citizen Endo, a study dedicated to uterus-affecting disease endometriosis, currently uses a heavily customized version of ResearchKit that surveys its participants. However, project manager Sylvia English tells us that it would love to integrate Apple Watch into its study. Part of the joy of that, she says, is to better utilize HealthKit and multiple apps.

"Data surrounding steps, sleep, nutrition - as people are using nutrition tracking apps - all of those things can feed into how a disease manifests or your experience of it," English says. "For example, if you're in a lot of pain you might not be moving as much so your step count would be low."

Hitting roadblocks

While integrating wearables into a ResearchKit study can be absurdly helpful, it's not always the right answer, as evident in a study into Sarcoidosis carried out at the University of Pennsylvania.

Sarcoidosis is a rare inflammatory disease that enlarges the lymph nodes, but because it's rare it makes it difficult for patients to seek answers. "A lot of the patients that we see with something like Sarcoidosis have to see four, five, six different doctors before they even find someone who knows enough about that disease to refer them to the right specialist. And then, because it's a multi-organ disease, they also need three or four different doctors," Misha Rosenbach, assistant professor of dermatology and internal medicine, tells us.

The Sarcoidosis app, then, is there to gather as much information as possible and then connect patients with doctors who can help them in their area. Because of the nature of the study, Rosenbach tells Wareable the researchers are unsure how wearables could help the study in the grand scheme of things.

However, he also notes that 10% of sarcoidosis patients have cardiac disease, and that they can suffer more problems because of it. So researchers have considered integrating the Apple Watch to better understand that aspect of the disease, but have run into an even bigger roadblock. While sarcoidosis affects everyone, it predominantly affects African-Americans in poorer communities.

Read this: 6 stories of lifesaving wearable tech

Thus, the demographics of people who have iPhones and Apple Watches, who tend to be more wealthy, don't line up with those who suffer from the disease, which makes attempting to use Apple Watch for research difficult. In fact, it's why the study is looking to break out into Android.

"We don't want to over-select people who have Apple Watches because that might not be representative of the overall patient cohort who suffer from sarcoidosis," Rosenbach says.

The researcher wishlist

The reason medical researchers love ResearchKit, and want to integrate wearables like Apple Watch into their studies, is because it allows them to gain valuable data on diseases and the way it affects their patients. The more data they gain, the better they can understand how to help patients and cure these diseases.

There have been rumors and murmurs that Apple is working on a series of smart bands for the Apple Watch that could track various pieces of health data, like a band that serves as a continuous glucose monitor. But what else could smart Apple Watch bands help track, giving these researchers even more data to better understand disease?

Hormones

Citizen Endo's Sylvia English tells us something that could track hormone levels would help its study.

"There hasn't been a study that takes regular readings of different hormone levels in a body within endometriosis, at least on a very regular basis so, for example, daily or multiple times a day. That would be something very interesting to see the natural hormonal variation day-to-day and see how that changes. As a researcher that would be very interesting to see, but also as a person that would be interesting to see how that would change with things like eating a meal."

Disease modulators

Sage's Lara Mangravite tells us there isn't one thing she'd want to track, since Sage has its fingers in so many different kinds of studies. Instead, she would focus on the more universal metrics.

"You know, what I see of universal interest in all the studies we're involved in is ways to identify modulators of disease. Things in our lives that have a universal affect on any health condition. And those are things like stress, and pain, and sleep. Those are very hard to quantify. I don't know that there's a way for a band to help with that, but I think a band that could help monitor the physiological science of stress would be highly useful."

Mood

UNC's Samanta Brody-Meltzer tells us that being able to track mood-based health triggers would be important for its study.

"There's all kinds of things that we'd want to track and understand. I think with mood and understanding how people experience mood symptoms and anxiety symptoms. The ability to understand sleep and sleep disruption is a very important area."

Glucose

While Penn's Misha Rosenbach doesn't have a health trigger that would help his study specifically, he does think the ability to track glucose in real time would be incredible.

"How hard it is for people to know what impact what they eat has on what's happening in their bodies. There are some patients who go drink a soda and don't realize how much sugar is in it. But if you have continuous monitoring and your watch beeps 30 minute after you drink a soda and it says your sugar is spiking it's going to have a positive feedback loop in terms of patient education and modification of behavior. The possibilities are possibly endless."