JMIR Publications

ABSTRACT

Background:

The low prevalence of rare diseases means high-quality evidence and guidelines concerning what is best practice is often unclear. The internet has assisted with this problem as electronic resources such as websites or interactive mobile applications designed for smartphones and tablets have become available. Such resources can provide web-based information, helplines, social support, and condition management support for people with a rare disease, their families, or both. The extent of the needs of this group, the electronic resources available, and how such resources may help address these needs is poorly understood.

Objective:

The aim of this scoping review is to assess the range and nature of a subset of electronic resources (apps) developed specifically for people diagnosed with a rare disease.

Methods:

Google Playstore (Android) and Apple AppStore (iOS) were searched for relevant health related apps specifically for rare diseases. Searches were run using the Google incognito mode to lessen the influence of searchers’ browser history. The search included the names of ten rare diseases. Rare diseases were defined as having an incidence of <1:2000. App quality was determined using the Mobile App Rating Scale (MARS) assessing app engagement, functionality, aesthetics and information.

Results:

We found 29 relevant apps (from 2,272) addressing 13 rare diseases/disease groups. Most common rare conditions addressed were cystic fibrosis and haemophilia. Most common features of the apps were online information and symptom trackers. On a 5-point scale, MARS scores ranged between 1.95 to 4.69.

Conclusions:

Most apps focused on providing factual and visual information, providing tools for self-management practices and resources to help improve interactions during health consultations. App origin and quality varied greatly. Apps that scored highest on MARS were co-designed by patients, clinicians, researchers and developers. Clinical Trial: N/A