Patient sample and data sources
BTHS
This study used data collected for the phase 2/3 randomized, double-blind, placebo-controlled crossover trial followed by an open-label treatment extension that evaluated the safety, tolerability, and efficacy of subcutaneous injections of elamipretide in subjects with genetically confirmed BTHS (Clinicaltrials.gov NCT03098797). This was a sponsor-initiated, single-site trial conducted at the Johns Hopkins Hospital. The summary results of the trial have been published previously [Participants were seen at 5 clinical visits: the screening visit (Screening), the baseline visit for treatment period 1 (Base1), the 12 week visit for treatment period 1 (End1), the baseline visit for treatment period 2 (Base2), and the 12 week visit for treatment period 2 (End2). At each of these visits, the patients were provided with an AVIVO™ mobile patient management system (Medtronic Inc.). This system is a wearable device intended to continuously measure, record and periodically transmit physiological data including electrocardiography and accelerometry. Participants were instructed to wear the System for approximately 7 consecutive days after the Screening, Base1 and Base2 visits and before the End1 and End2 visits. All data from the wearable device were complete, except for two patients who had no recordings at the End2 visit.Outcome measures included the following: 6MWT [