Newest ResearchKit Study Focuses on a Rare Disease

Penn Medicine's mHealth project targets sarcoidosis, an inflammatory condition that can cause organ damage. Researchers hope the digital health platform will help them connect with patients and find the elusive cause of the disease.

Penn Medicine is launching an mHealth project on the ResearchKit platform, aimed at connecting healthcare providers with the few thousand people across the globe who have a rare condition called sarcoidosis.

An inflammatory condition that leads to the formation of lumps known as granulomas, sarcoidosis usually begins in the lungs, skin or lymph nodes, but can affect any organ, including the brain, heart, eyes and liver. The largest study to date on the disease enrolled some 800 patients for three years and involved 20 health systems across the country.

Misha Rosenbach, MD, an assistant professor of dermatology in the Perelman School of Medicine at the University of Pennsylvania and one of the leaders of the ResearchKit study, said the previous project didn’t answer critical questions about the disease. He’s hoping a study that connects researchers in real-time with patients through their mobile devices can produce better data.

This new app has the potential to build up a larger cohort of more diverse patients in a shorter amount of time,” he said in a press release issued by Penn Medicine. “There’s a motivated and engaged group of sarcoidosis patients who are active online, but there’s a whole host of them out there we don’t know about. This app, which can securely, privately, and anonymously collect data, casts a wide net that may engage those people, and funnel valuable, much-needed information to researchers.”

This latest study is a timely bit of news for Apple’s clinician-facing mHealth platform, which is starting to see a host of challengers interested in the growing clinical trial space. It also marks an evolution of sorts for ResearchKit:  while many of the studies unveiled in the two years since the platform was launched have focused on large populations, chronic conditions or public health issues, Penn Medicine is looking to target a much smaller population whose members are scattered across the globe and not easily gathered together.

“There’s a great opportunity that has never been done,” said Rosenbach, who’s collaborating on the project with Daniel O’Connor, a fourth-year Penn medical student, and Marc Judson, MD, of Albany Medical College and the Foundation for Sarcoidosis Research. “In traditional research, you can’t see patients every day, but in app-based research you can suddenly get all this information about the disease in real-time and over time, from many different patients all over the world. It gives us the power to do sarcoidosis research in a way that has never been done.”

Patients opting into the study will provide researchers with information about the disease, including how often it flares up, how it affects their lives and what medications are used. In addition, the study will collect data from each user’s iPhone, including lifestyle markers like activity and weather conditions. Finally, patients will be supplied with educational resources, links to information and advocacy groups, and directions to the nearest specialists based on their GPS coordinates.

That back-and-forth between patients and researchers is another evolution of the platform. It’s also seen in the Stanford University School of Medicine’s recent release of MyHeart Counts 2.0, an updated version of the ResearchKit app that adds precision medicine to the research project focusing on heart health.

“We know when it comes to changing key health habits, such as physical activity and daily sitting time, one size definitely does not fit all,” Abby King, PhD, a professor of medicine and health research and policy at Stanford, said in a news release prepared by the university. “Yet until the advent of mobile apps and other e-health programs, we’ve had few options for customizing messages and feedback to individuals in real time.”

Rosenbach and his team are hoping that information collected from patients will help them understand a condition whose cause hasn’t been determined. Researchers have found that it’s apparently triggered by the body’s response to some foreign material, such as an atypical infection, but doesn’t stop when the infection goes away, and continues to produce granulomas that can lead to organ damage.

O’Connor told Penn Medicine News he’s hoping the study can someday be modified to target other rare diseases.

“We’re excited about future opportunities to repurpose the app for other rare diseases as well,” he said. “With a strong app framework in place, sarcoidosis could be swapped out for another disease, allowing wide networks of patients all over the country to participate in Penn studies without traveling to Philadelphia.”

This article originally appeared in mHealth Intelligence on January 20, 2017

TRNDS 2017

University of Rochester
Saunders Research Building
Helen Wood Hall Auditorium
255 Crittenden Blvd
Rochester, NY 14642

Date: Friday, May 12, 2017
Time: 7:30am – 3:45pm

TRNDS Speakers

Room Block

Hilton Garden Inn
Rochester/University
Medical Center

30 Celebration Drive
Rochester, NY 14620

Phone: 585-424-4404

TRNDS Rate: $129/night

TRNDS News

  • New Grants will Accelerate Clinical Trials in Rare Neurological Disorders
    READ MORE
  • Neurogene Offers Access to Genetic Testing for Lysosomal Storage Disease
    READ MORE
  • NIH launches 5-year, $10 million study on acute flaccid myelitis
    READ MORE
  • Study refines ALS risk among first-degree relatives of patients with disease
    READ MORE
  • NCATS Director Warns of 'Poorly Understood Public Health Implications of Rare Diseases'
    READ MORE
  • Speeding Up Drug Discovery for Brain Diseases
    READ MORE
  • NIH-Funded Project Aims to Build a ‘Google’ for Biomedical Data
    READ MORE
  • Rare Disease Groups Seek Public Support to Renew Newborn Screening Act in Senate
    READ MORE
  • Jsyne Gershkowitz, Amicus Therapeutics, TRNDS 2019
    (Podcast) Get to know Jayne Gershkowitz, Chief Patient Advocate at Amicus Therapeutics
    READ MORE
  • PJ Brooks, NCATS, NIH, TRNDS
    Meet TRNDS 2019 Speaker PJ Brooks
    READ MORE
  • Rare Pediatric Disease PRVs: FDA Updates Guidance
    READ MORE
  • Batten Disease Study
    Neurogene Opens Natural History Study of CLN7, CLN5 Diseases at UT Southwestern
    READ MORE
  • C-Path and NORD Collaborate to Launch Rare Disease Data Platform
    READ MORE
  • TRNDS 2019 speaker Tauna Batiste, BDSRA
    Meet TRNDS Speaker Tauna Batiste
    READ MORE
  • HD Patients Prefer Less Invasive, No-Placebo Gene Therapy Trials
    READ MORE
  • Evidation & Eli Lilly Study Uses Apple Devices, Apps to Predict Cognitive Impairment
    READ MORE
  • 'Dr. Google' Helps Some Patients Diagnose a Rare Disease
    READ MORE
  • Antisense Drugs for HD, ALS & Prion Could Meet the Need for Brain Treatments
    READ MORE
  • Ultragenyx Partners with GeneTx to Advance Treatment for Angelman Syndrome
    READ MORE
  • Netflix's Medical Investigation Docuseries 'Diagnosis'
    READ MORE
  • NIH All of Us Project Tops 270,000 Sign-ups
    READ MORE
  • FDA Cancer Office Taps Syapse for Real-world Evidence Development
    READ MORE
  • Gene Linked to Rare Neurological Disorder May Play a Role in Alzheimer’s
    READ MORE
  • Gene Therapy Developers Issue Principles for Human Genome Editing
    Gene Therapy Developers Issue Principles for Human Genome Editing
    READ MORE
  • Forget Single Genes: CRISPR Now Cuts & Splices Whole Chromosomes
    READ MORE
  • Benjjamin Schlatka MC10 TRNDS
    TRNDS Speaker Benjamin Schlatka, MC10
    READ MORE
  • TRNDS Danielle Edwards Jett Foundation
    TRNDS Speaker Danielle Edwards, Jett Foundation
    READ MORE
  • His daughter has a rare disorder. He’s developing a novel gene therapy.
    READ MORE
  • A Doctor Tested a New Treatment on Himself, Now it's Saving Other Lives
    READ MORE
  • Study Presents Clinical, Genetic Landscape of Pompe Disease
    READ MORE