Patient-Powered Research Network Develops App for Charcot-Marie-Tooth Disease

The Global Registry for Inherited Neuropathies (GRIN) is patient-powered research network conducting institutional review board (IRB)-approved research via collection of patient- and physician-generated data. The online database includes genetic reports, specific diagnostic, medical tests, and self-reported patient data collected by surveying individuals with neuropathies. Visual documentation of challenges with activities of daily living and expert assessment of disease progression are also incorporated. 

In response to several gaps in existing Charcot-Marie-Tooth (CMT) disease natural history studies, the Hereditary Neuropathy Foundation (HNF) has enhanced the value of GRIN by developing a mobile phone app, the CMT Medical Journal, to accurately document the daily challenges of living with CMT. The platform is HIPAA-secured to allow individuals to share data with their clinical teams. Prescribed photos and videos based upon validated scales (eg, the Overall Neuropathy Limitation Score (ONLS) or CMTPedS) are captured with Capture Proof's Smart Medical Camera in the mobile app, which is currently available for iPhone.

This patient-powered research network is a centralized virtual natural history study platform that allows individuals to self-enroll and update their information. The database can be accessed and evaluated by a healthcare providers engaged in research. With the enrollment of individuals with CMT disease for GRIN, more clinical trials can be designed with more rapid participant enrollment. The database also allows access to participants without geographic boundaries, helping to overcome language barriers, and support inclusion and diversity.

"I am so excited to break the barriers by collecting high-quality patient data that is both patient-powered and clinician-observed to support industry and FDA to accelerate therapies for CMT which may be a model for other rare diseases with unmet medical needs," said Allison Moore, HNF's founder and chief executive officer

Patients can visit https://www.hnf-cure.org/registry/ to apply for enrollment in the "CMT Medical Journal" pilot study.