UPDATED October 30, 2017
Researchers at the University of Rochester in New York are conducting a research study to learn more about a potential symptomatic therapy for FSHD. This study may help determine if a combination of drugs (recombinant human growth hormone [rHGH] and testosterone) can be safely given to patients with FSHD and possibly improve walking, strength, muscle mass, quality of life, and functional ability.
The study has recruited 20 men with FSHD between the ages of 18 and 65, who are still able to walk. The volunteers have committed to making five visits (one with an overnight stay) to the University of Rochester. Study procedures include taking the study drugs (testosterone and rHGH), a physical exam, collection of blood samples, muscle strength and function testing, questionnaires, EKGs, and DEXA scans.
According to the NIH Research Portfolio website, the rationale for this study is described as follows: “Large-scale clinical trials have found that testosterone combined with recombinant human growth hormone (rHGH) (combination therapy) is well tolerated and effective in synergistically improving respiratory function, lean body mass, protein synthesis, strength, and aerobic endurance in healthy adult human populations. Both testosterone and rHGH are readily available and approved for human use but have never been formally studied together in a muscular dystrophy population. We propose a 36-week, proof-of-concept clinical study of the safety and tolerability of daily rHGH combined with biweekly testosterone injections in men with FSHD. All participants will be serially and closely monitored during a 24-week period of combination therapy followed by a 12-week washout period. Safety assessments will include monitoring for medication side effects, laboratory abnormalities, physical exam changes, and EKG alterations. As a secondary objective, we will examine the pharmacokinetic effects of combination therapy on lean body mass and serum biomarkers. Participants will also have serial assessments of their ambulation, strength, physical function, patient-reported disease burden, and respiratory function. Ultimately, this study will generate extensive data regarding the clinical safety, pharmacokinetics, and change in body composition and clinical function associated with combination therapy in a predefined FSHD population.”