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Rare Disease Revolution: Changing Research Through an App

Ever since Apple rolled out its ResearchKit framework two years ago, valuable data collected from the iPhones of patients with Parkinson’s disease, breast cancer, and asthma who opt-in to use these applications has poured into medical centers investigating better ways to study and treat these diseases. The latest foray into mobile research technologies comes from researchers in Penn Dermatology, who recently launched a ResearchKit app focused on sarcoidosis, an inflammatory condition that can affect the lungs, skin, eyes, heart, brain, and other organs.

The app was developed by Dr. Misha Rosenbach, an assistant professor of Dermatology, and Daniel O’Connor, a fourth-year medical student. Patients can use the app to find links to resources like disease information and advocacy groups, and to find specialists in their area based on their phone’s GPS capabilities. They can also opt-in to a study which gives the researchers access a trove of information. That data is collected by way of optional monthly surveys and collecting select information from the iPhone Health app to identify disease-related trends.

When sarcoidosis is flaring, are patients walking more? Do they miss work? Are they affected by time in the sun or changing seasons? How quickly do they respond to treatments? The hope is this data will help the researchers spot trends and learn more about Sarcoidosis.

I sat down with Rosenbach and O’Connor to find out how the idea first came about. While they continue to think big in their attempt to improve the lives of sarcoidosis patients, they say the idea began after a comment made in passing.

Daniel O'Connor and Misha Rosenbach, MD

Q: How did the idea of developing an app first come up?

A: Rosenbach: While we were on rounds in the hospital, we were seeing a patient with a very rare disease, which the medical community has limited data about. I remarked that we live in a time when people have smartphones in their pocket, so we should be able to immediately connect to these patients.  If there was an app for patients with a rare disease, we could probably reach those patients and ask them questions about the disease, how it impacts them, and what makes them better and worse. We could really unlock some breakthroughs and identify some areas of high impact to improve patients’ lives.

O’Connor: The idea sounded like it could really be a game-changer. I've had some experience with app development, and so right there on rounds we decided that we'd give it a shot.

Q. When you began to build the app, where did you start? What was the process like? How did you end up partnering with Apple’s ResearchKit?

A: O’Connor: We initially envisioned building a fairly simple app with some basic features such as links to curated, accurate patient information, and some surveys to get at key questions. We thought we were going to need to keep things pretty basic, since I was planning on coding the entire app myself, from scratch. As we were in the midst of planning, Apple announced ResearchKit, a set of tools designed to make it easy for medical researchers to study disease using mobile technology. These tools allowed us to go way beyond anything we had initially envisioned. For example, ResearchKit helped us to capture and process data already being collected from phone sensors. It also enabled us to design the app with the aesthetic and ease of use for which Apple is famous. After ResearchKit was announced, we essentially cold-called Apple to ask when the technology would be released. They were immediately enthusiastic about helping our project to become a success and have been phenomenal in guiding us along the way since.

Rosenbach: Apple was really outstanding with its open-source release of ResearchKit code in an effort to help make it easier for medical researchers to develop apps to help patients and help study diseases through mobile devices. 

Q: What kinds of benefits does this app give to the patients who download it?

Rosenbach: Sarcoidosis is a rare disease and it is often hard for patients to find accurate information about it. Many doctors don’t know very much about sarcoidosis as well. The app is designed to provide patients with accurate, vetted information from reliable sources to explain the disease and to link them with local support groups, national advocacy groups, and nearby physicians who are flagged as experienced in treating patients with sarcoidosis. 

O’Connor: We also hope that by participating in our study, users will feel empowered knowing that they are helping the medical community to conduct useful research.

Q: How important was it to you to collaborate with the Foundation for Sarcoidosis Research (FSR) on this app?

A: Rosenbach: The FSR is a great resource for patients with sarcoidosis and does an outstanding job of both connecting patients with each other and advocating for patients with sarcoidosis. They have a large patient network and were able to effectively get out the word about this app to the people most likely to need it, use it, and to participate in research related to sarcoidosis. 

Q: Can this app help solve some of the traditional challenges of medical research?

A: Rosenbach: Normally it can take a long time, and cost a lot, to gather large numbers of patients with a rare disease and ask them questions about their condition. By using this mobile app, we are hoping that we can reach larger numbers of patients faster and more efficiently, letting us study the impact of sarcoidosis on a large patient population. Additionally, the mobile app can help us follow the disease over time, and has the potential to allow us to look at questions that have never been examined, like seasonal disease changes, the timing of disease changes, associations of sarcoidosis with locations, or the environment and weather.

O’Connor: More than nine out of 10 people in the United States in the age range corresponding to peak sarcoidosis prevalence own smartphones, and almost everyone has their phone on them at almost all times. This means we can collect huge amounts of research data with far more frequency and regularity then was ever possible before, and without placing more burden on patients, or violating their privacy. Conducting similar research using traditional methods would have required patients from around the country to come into clinics daily, or even more frequently. It just wouldn't be possible.

Q: What is your hope for the data you’re collecting? What do you plan to do with it all?

A: Rosenbach: Broadly, we hope first to be able to show that mobile apps can be used to study rare diseases. More than that, we hope we can get a better understanding for how sarcoidosis affects patients and impacts their lives over time. Eventually, we hope to use the mobile app to connect patients with sarcoidosis researchers who may have other specific questions they hope or need to ask to further their research and push the field forward. 

O’Connor: Learning more about how sarcoidosis affects people's day-to-day lives will help us to be better patient advocates and make it easier to raise awareness and funding for the disease. If our app is successful, there are numerous additional research questions we could potentially answer. At the end of the day, the ultimate goal is to improve the quality of life for people with this disease.

Q: There’s been a big response to this app, including from many people outside the United States who want to take part. Do you have any plans to take the app international and to offer it in different languages?

A: Rosenbach: We would love to! But first we need to show that mobile apps can function as a research tool in rare diseases. If we can get sufficient engagement and high quality data from the initial roll-out, that can lead to grant funding to support efforts to expand to other platforms, countries, and languages. Our goal is to eventually make the app available to anyone, anywhere.  

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