STARFISH PIER: Study of Testosterone and rHGH in FSHD: Planning Infrastructure Execution and Readiness

PROJECT SUMMARY/ABSTRACT: Facioscapulohumeral muscular dystrophy (FSHD) is the second most common adult muscular dystrophy in the world with a global prevalence of ~4:100,000. Clinically, patients with FSHD experience progressive weakness, muscle wasting, and varied symptomatic burden. As adult patients with FSHD age, they frequently

develop difficulty walking or lose the ability to ambulate due to profound weakness and muscle atrophy. Currently, there are no therapies that have been demonstrated to reverse or even slow the progressive symptoms associated with FSHD. A treatment that limits disease progression and/or reverses functional

decline would be beneficial to this population. In 2022, we successfully completed a single center (University of Rochester), single-arm, proof-of-concept study to evaluate the safety and tolerability of daily rHGH (Genotropin®) combined with testosterone enanthate injections every 2 weeks in men with FSHD. Participants

received study drugs for 24 weeks followed by a 12-week washout period. Participants received serial safety testing, laboratory testing, functional assessments, and disease burden monitoring during the study with no participants experiencing a serious adverse event. After 24 weeks, the six-minute walk distance increased by

37.3 meters (p=0.001), lean body mass improved by 2.2 kg (p