New mobile app connects rare disease patients to research
With IAMRARE app, patients use phones to track experiences
A new mobile app aims to make it easier for people with rare diseases — including aromatic l-amino acid decarboxylase (AADC) deficiency — and their caregivers to take part in research and long-term studies.
The National Organization for Rare Disorders (NORD) designed the IAMRARE mobile app to connect directly with the NORD IAMRARE registry platform, which hosts natural history studies and registries that collect information from people living with rare diseases to better understand how these conditions progress over time.
The app, available on the Apple App Store and Google Play, allows participants to access IAMRARE studies from their phones or tablets, using the same login information as the online platform. The app offers a faster, simpler way to complete surveys, track experiences, and receive reminders to stay engaged in studies, NORD said.
“The IAMRARE mobile app is a game-changer,” Pamela K. Gavin, NORD’s CEO, said in an organization press release. “By making it easier for patients to participate and stay engaged, critical data can be collected faster and with higher quality. That means studies move forward more quickly, discoveries come sooner, and more approved therapies come to market.”
Rare diseases, or conditions affecting fewer than 200,000 people in the U.S., often present significant research challenges due to small patient populations, delayed or difficult diagnoses, and limited understanding of how the diseases progress.
Natural history studies use patient experiences to understand diseases
NORD created the IAMRARE program in 2014 to help collect and organize real-world data from people living with rare diseases. This information, often gathered through surveys completed by patients or caregivers, helps researchers and regulators understand what daily life with a disease is like, how symptoms change over time, and what outcomes matter most to patients.
These so-called natural history studies don’t involve testing treatments. Instead, they follow people over time to define how a disease progresses on its own. Such studies are crucial for developing new therapies and conducting clinical trials, particularly for ultra-rare conditions like AADC deficiency, where data are often scarce.
The program was developed with input from the U.S. Food and Drug Administration, the National Institutes of Health, and the rare disease community. Its design allows participants to visualize their own, anonymous data and compare it to overall trends in the study population.
The platform uses a cloud-based design that is mobile-friendly, secure, and easy to use, according to NORD. Since more than half of study participants access the IAMRARE platform through their phones, the app was designed to provide a faster connection, easier navigation, and useful reminders.
IAMRARE has supported more than 70 natural history studies, involving more than 20,000 participants across 165 rare diseases. The data collected have led to more than 30 scientific publications and contributed to the development of one approved therapy, according to NORD.
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