Study of Testosterone and rHGH in FSHD

This is a single-center, open-label study of daily human growth hormone (Genotropin®, 5.0 μg/kg via subcutaneous injection) and testosterone (testosterone enanthate, 140mg via intramuscular injection every two weeks) for 24 weeks in men with FSHD with a 12 week washout period. A total of 20 subjects will be enrolled at the University of Rochester Medical Center in Rochester, NY.

Inclusion criteria

• A genetically confirmed diagnosis of FSHD (or clinical symptoms suggestive of FSHD with a first degree relative with genetically confirmed FSHD)
• Hematocrit of ≤ 50%
• Prostate-specific antigen ≤ 4.0 ng/ml (or ≤ 3.0 ng/ml if the participant has a first-degree relative with prostate cancer)
• Fasting blood glucose <126 mg/dl
• Able to walk continuously for six minutes (cane, walker, orthoses allowed)
• Able to independently administer intramuscular and subcutaneous injections (or have a family member who is capable and willing to administer these injections)

Exclusion criteria

• Diabetes
• Obesity (BMI>35 kg/m2)
• Cardiovascular disease (heart failure, coronary artery disease, uncontrolled hypertension, untreated hypercholesterolemia)
• Untreated thyroid disease
• Deep vein thrombosis
• Untreated severe sleep apnea
• Past pituitary disease
• Significant musculoskeletal injury and/or pain that affects walking
• A systolic blood pressure over 160 or a diastolic pressure over 100
• Plans to dramatically change exercise habits
• Liver disease
• Renal disease
• Cancer (other than basal cell skin cancer)
• Plans to conceive
• Heavy alcohol use (greater than 50g/day)
• Current testosterone or HGH use
• Current use of medications that interfere with the growth hormone or gonadal endocrine axis.