The Benefits of Digital Health for Rare Disease Research

How digital health could influence the conduct of rare disease studies and positively impact patient populations.

by April Schultz

Digital health is at the forefront the clinical research industry as a potential game-changer. Mobile technology such as ResearchKit has the ability to significantly alter the conduct of clinical trials, including key operations like trial design, data collection and subject engagement.

While these applications will certainly affect all therapeutic areas, one notable part of the digital discussion is the potential benefit to rare disease research. The capabilities of mobile technology for rare disease studies could ease unique operational difficulties, improve study conduct and potentially increase quality of life for subjects.

Digital recruitment broadens study reach

Subject recruitment is among the many challenges rare disease studies present clinical researchers. While recruitment is a challenging task for many clinical trials, the difficulty is amplified for rare disease studies, as subjects are isolated to a small number of individuals. As such, clinical trial databases are limited and participants are difficult to locate, making it a struggle to meet enrollment goals. Digital health has the potential to reduce this struggle by significantly increasing communication reach. Platforms like ResearchKit amplify recruitment efforts to a global scale, increasing study awareness and potentially identifying a larger audience of eligible subjects.

Remote monitoring could encourage more longitudinal studies

Longitudinal studies provide insight into disease emergence and progression as well as the effects of long-term interventions. These types of studies are particularly important for rare disease research, as subject retention is vital to the continuation of a rare disease study due to the small patient populations. Longitudinal studies allow researchers to follow the same subjects throughout the course of their lifetime, reducing enrollment needs and accumulating valuable data over time.

Remote monitoring capabilities of some digital health tools could encourage an increase in longitudinal studies for rare diseases and assist during the data collection process. As treatments for rare diseases are limited, often patients must rely on solely investigational therapies throughout the course of a study. This limiting factor makes data accuracy even more significant. Remote monitoring objectifies study data by collecting real-time information from subjects using wearable technology and/or FDA-approved medical devices. Such capabilities also increase the patient-centricity of a clinical trial by reducing the amount of time a subject is required to visit a trial site—particularly important during a longitudinal study that could last decades.

Digital health also offers the opportunity for subjects to answer questions and submit data in real-time using applications like digital diaries or logs. This reduces the risk of recall bias and allows for more accurate data to be collected about subjects’ daily lives, providing insight into potential issues and patterns that would otherwise be unknown.

Online forums reduce patient isolation

Rare disease subjects often live challenging lives, encountering adversity on a daily basis—physically and socially. Quality of life can be low and the idea that the subject is struggling alone can be emotionally taxing.

Digital health portals and forums reduce the feeling of isolation by promoting community and understanding. Using these outlets, subjects gather to freely communicate with peers and share factors that could affect their responses to certain drugs. Here, subjects learn more about their disease and are empowered by the ability to share their own data. A well-known online community, PatientsLikeMe, allows users to share health data and promote wellness. Due to the remote monitoring capabilities of wearable technology, mobile health users are able to provide in-depth information to these communities. Data sharing also helps pharmaceutical companies gain a better understanding of their subject population, making research more patient-centric and driving research most important to patients and their families.

While digital health is still in its infancy within the clinical research space, discussion on the improvement of trial design and the potential for rare disease subjects is very exciting. If you would like to add to the conversation, be sure to leave your thoughts, ideas and experiences in the comment section below.

This article originally appeared in Forte Research Systems on April 5, 2016

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
Medical Center

30 Celebration Drive
Rochester, NY 14620

Phone: 585-424-4404

TRNDS Rate: $129/night


  • New Grants will Accelerate Clinical Trials in Rare Neurological Disorders
  • Neurogene Offers Access to Genetic Testing for Lysosomal Storage Disease
  • NIH launches 5-year, $10 million study on acute flaccid myelitis
  • Study refines ALS risk among first-degree relatives of patients with disease
  • NCATS Director Warns of 'Poorly Understood Public Health Implications of Rare Diseases'
  • Speeding Up Drug Discovery for Brain Diseases
  • NIH-Funded Project Aims to Build a ‘Google’ for Biomedical Data
  • Rare Disease Groups Seek Public Support to Renew Newborn Screening Act in Senate
  • Jsyne Gershkowitz, Amicus Therapeutics, TRNDS 2019
    (Podcast) Get to know Jayne Gershkowitz, Chief Patient Advocate at Amicus Therapeutics
  • PJ Brooks, NCATS, NIH, TRNDS
    Meet TRNDS 2019 Speaker PJ Brooks
  • Rare Pediatric Disease PRVs: FDA Updates Guidance
  • Batten Disease Study
    Neurogene Opens Natural History Study of CLN7, CLN5 Diseases at UT Southwestern
  • C-Path and NORD Collaborate to Launch Rare Disease Data Platform
  • TRNDS 2019 speaker Tauna Batiste, BDSRA
    Meet TRNDS Speaker Tauna Batiste
  • HD Patients Prefer Less Invasive, No-Placebo Gene Therapy Trials
  • Evidation & Eli Lilly Study Uses Apple Devices, Apps to Predict Cognitive Impairment
  • 'Dr. Google' Helps Some Patients Diagnose a Rare Disease
  • Antisense Drugs for HD, ALS & Prion Could Meet the Need for Brain Treatments
  • Ultragenyx Partners with GeneTx to Advance Treatment for Angelman Syndrome
  • Netflix's Medical Investigation Docuseries 'Diagnosis'
  • NIH All of Us Project Tops 270,000 Sign-ups
  • FDA Cancer Office Taps Syapse for Real-world Evidence Development