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.

• Testosterone Enanthate (Drug), also known as Delatestryl, Tesostroval, Testro LA, Andro LA, Durathate, Everone, Testrin, Andropository, Testosterone heptanoate: Testosterone enanthate in oil (140mg) delivered via intramuscular injections every 2 weeks.
• Somatropin (Drug), also known as Genotropin, Humatrope, Norditropin, Nutropin, Serostim, Zorbtive: Genotropin (5.0 μg/kg/day) delivered via subcutaneous injections.

Primary outcomes

• Number of Participants Who Experienced an AE [36 weeks]: AEs were collected through patient report, interval laboratory studies, resting echocardiograms, dual energy x-ray absorptiometry (DEXA) studies, and physical examinations.

Secondary outcomes

• Mean Change in Level of Free Testosterone in the Blood [Baseline to 24 weeks]
• Mean Change in Level of Total Testosterone in the Blood [Baseline to 24 weeks]
• Mean Change in Level of IGF-1 in the Blood [Baseline to 24 weeks]
• Mean Change in Level of TSH in the Blood [Baseline to 24 weeks]
• Mean Change in Level of Luteinizing Hormone in the Blood [Baseline to 24 weeks]
• Mean Change in Level of FSH in the Blood [Baseline to 24 weeks]
• Mean Change in Total Lean Body Mass [Baseline to 24 weeks]

Sex: Male, ages: 18 Years to 65 Years

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.

Participant flow

Outcome results

• Number of Participants Who Experienced an AE (Primary), Count of participants, Participants: Combination Therapy 14
• Mean Change in Level of Free Testosterone in the Blood (Secondary), Mean, pg/mL: Combination Therapy 17.42 +/- 77.94
• Mean Change in Level of Total Testosterone in the Blood (Secondary), Mean, ng/dL: Combination Therapy 8.26 +/- 277.94
• Mean Change in Level of IGF-1 in the Blood (Secondary), Mean, ng/mL: Combination Therapy 89.79 +/- 71.57
• Mean Change in Level of TSH in the Blood (Secondary), Mean, uIU/mL: Combination Therapy 0.37 +/- 0.66
• Mean Change in Level of Luteinizing Hormone in the Blood (Secondary), Mean, mIU/mL: Combination Therapy -3.48 +/- 2.64
• Mean Change in Level of FSH in the Blood (Secondary), Mean, mIU/mL: Combination Therapy -3.29 +/- 4.47
• Mean Change in Total Lean Body Mass (Secondary), Mean, Kg: Combination Therapy 2.21 +/- 1.79

Adverse events

Time frame: 36 weeks

Other adverse events by term

• Results publication: Heatwole CR, Luebbe E, Hamel J, Mongiovi PC, Ciafaloni E, Dilek N, Martens WB, Weber DR, Rashid H, Allen McKeown J, Smith CH, Howell S, Rosero SZ, Eichinger K, Baker LS, Dekdebrun JM, Hilbert JE, Varma A, Thornton CA, McDermott MP, Moxley RT 3rd. Study of Testosterone and Recombinant Human Growth Hormone in Facioscapulohumeral Muscular Dystrophy. Neurol Genet. 2025 Aug 27;11(5):e200292. doi: 10.1212/NXG.0000000000200292. eCollection 2025 Oct. PMID 40900971

• Study Protocol and Statistical Analysis Plan (PDF, 2021-05-04)
• Informed Consent Form (PDF, 2021-05-04)

• Chad R Heatwole, MD, MS-CI, Principal investigator, University of Rochester