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.