Study of Testosterone and rHGH in FSHD

NCT03123913 | Completed Phase 1 Results FDA Drug

• 1 other identifier: 1R01NS095813-01
• Study Type: interventional
• Target: 20
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study is to investigate the safety and tolerability of combination therapy with recombinant human growth hormone (rHGH) and testosterone in adult male patients with facioscapulohumeral muscular dystrophy (FSHD) over 24 weeks.

Conditions

Facioscapulohumeral Muscular Dystrophy

Outcome Measures

Primary Outcomes (1)

• Number of Participants Who Experienced an AE

  AEs were collected through patient report, interval laboratory studies, resting echocardiograms, dual energy x-ray absorptiometry (DEXA) studies, and physical examinations.

  36 weeks

Secondary Outcomes (7)

• 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

Study Arms (1)

Combination therapy

EXPERIMENTAL

Testosterone Enanthate and Somatropin

Drug: Testosterone Enanthate; Drug: Somatropin

Interventions

Testosterone Enanthate DRUG

Testosterone enanthate in oil (140mg) delivered via intramuscular injections every 2 weeks.

Also known as: Delatestryl, Tesostroval, Testro LA, Andro LA, Durathate, Everone, Testrin, Andropository, Testosterone heptanoate

Combination therapy

Somatropin DRUG

Genotropin (5.0 μg/kg/day) delivered via subcutaneous injections.

Also known as: Genotropin, Humatrope, Norditropin, Nutropin, Serostim, Zorbtive

Combination therapy

Eligibility Criteria

• Age: 18 Years - 65 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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)

You may not qualify if:

• 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)

Sponsors & Collaborators

• University of Rochester: lead

Study Sites (1)

University of Rochester

Rochester, New York, 14642, United States

Location

Related Publications (1)

• 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 DERIVED

MeSH Terms

Conditions

Muscular Dystrophy, Facioscapulohumeral

Interventions

testosterone enanthate; Testosterone Propionate; Human Growth Hormone; Growth Hormone

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Testosterone; Androstenols; Androstenes; Androstanes; Steroids; Fused-Ring Compounds; Polycyclic Compounds; Testosterone Congeners; Gonadal Steroid Hormones; Gonadal Hormones; Hormones; Hormones, Hormone Substitutes, and Hormone Antagonists; Pituitary Hormones, Anterior; Pituitary Hormones; Peptide Hormones; Peptides; Amino Acids, Peptides, and Proteins

Results Point of Contact

• Title: Chad Heatwole, MD, MS-CI
• Organization: University of Rochester Medical Center

dystrophy_registry@urmc.rochester.edu

585-275-7867

Study Officials

• Chad R Heatwole, MD, MS-CI

  University of Rochester

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: Yes
• Restrictive Agreement: No

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Neurology

Study Record Dates

• First Submitted: April 12, 2017
• First Posted: April 21, 2017
• Study Start: December 18, 2017
• Primary Completion: March 28, 2022
• Study Completion: March 28, 2022
• Last Updated: May 16, 2023
• Results First Posted: May 16, 2023

Record last verified: 2023-05

Locations

US (1)