Abstract Details

Title Results from a 36-Week Open-Label Study of Recombinant Human Growth Hormone and Testosterone in Facioscapulohumeral Muscular Dystrophy (FSHD)

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) S48 - Therapeutics for Muscle Disease (5:06 PM-5:18 PM)

Poster/Presentation
Number 009

Objective

To determine the safety and tolerability of daily recombinant human growth hormone (rHGH) combined with testosterone injections every 2 weeks in ambulatory men with FSHD.

Background

FSHD is a progressive muscular dystrophy that affects ~4/100,000 people globally. Clinically, FSHD causes progressive weakness, muscle atrophy, and limitations with ambulation. A treatment that limits disease progression and/or reverses functional decline would be beneficial to this population.

Design/Methods We conducted a single center (University of Rochester), single-arm, proof-of-concept study to evaluate the safety and tolerability of daily rHGH (Genotropin®) combined with testosterone enanthate injections every 2 weeks in men with FSHD. Participants received study drugs for 24 weeks followed by a 12-week washout period. Participants received serial safety testing, laboratory testing, functional assessments, and disease burden monitoring during the study.

Results Nineteen out of 20 participants completed the study, with no participants experiencing a serious adverse event. One participant dropped out due to travel distance and the COVID pandemic. The most common adverse event was soreness at the rHGH/testosterone injection site (6 participants). After 24 weeks, the six-minute walk distance increased by 37.3 meters (p=0.0007), lean body mass improved by 2.2 kg (p<0.0001), body fat reduced by 1.3 kg (p=0.04), overall strength (standardized QMT, average % of predicted normal) increased by 3% (p=0.03), and total disease burden (FSHD-HI) reduced by 19% (6 points; p=0.04) from baseline.

Conclusions Combination therapy is safe and well-tolerated in men with FSHD. Despite FSHD being a progressive disease, participants experienced improvements in ambulation, strength, muscle mass, and disease burden in response to this study intervention. Placebo-controlled trials are needed to further investigate this promising therapeutic approach.

Authors/Disclosures
Chad R. Heatwole, MD, FAAN (University of Rochester Medical Center) PRESENTER	Dr. Heatwole has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Virginia Commonwealth University. Dr. Heatwole has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for Legal Med. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Neurocrine. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novartis. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Swan Bio. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Harmony. Dr. Heatwole has received personal compensation in the range of $0-$499 for serving as a Consultant for Iris. Dr. Heatwole has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Recursion. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Avidity Biosciences. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Lupin. Dr. Heatwole has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Neurocrine. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sanofi. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for New York Central Mutual. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Penn Prop and Gas. The institution of Dr. Heatwole has received research support from Department of Defense. The institution of Dr. Heatwole has received research support from Novartis. The institution of Dr. Heatwole has received research support from MJFF. The institution of Dr. Heatwole has received research support from FARA. The institution of Dr. Heatwole has received research support from NIH. The institution of Dr. Heatwole has received research support from University of Miami. The institution of Dr. Heatwole has received research support from MDA. Dr. Heatwole has received intellectual property interests from a discovery or technology relating to health care.
	No disclosure on file
Johanna Hamel, MD (University of Rochester, Neurology)	Dr. Hamel has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Vertex Pharmaceuticals.
Phillip C. Mongiovi, MD (U of Rochester, Dept of Neurology)	Dr. Mongiovi has nothing to disclose.
Emma Ciafaloni, MD, FAAN (University of Rochester Medical Center)	Dr. Ciafaloni has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Argenx, Alexion, Sarepta, UCB, Hoffman-LaRoche, Biogen. Dr. Ciafaloni has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis, AnnJi Pharmaceutical, ML-BIO, Avidity. The institution of Dr. Ciafaloni has received research support from CDC, CureSMA, FDA, Orphazyme, Sarepta, PCORI, Neurogene. Dr. Ciafaloni has received publishing royalties from a publication relating to health care.
Nuran Dilek (University of Rochester)	Nuran Dilek has nothing to disclose.
William Martens (University of Rochester)	William Martens has nothing to disclose.
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
Katy Eichinger, PhD, PT, DPT, NCS (University of Rochester)	Dr. Eichinger has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Fulcrum. Dr. Eichinger has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Avidity. Dr. Eichinger has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for DyneTherapeutic. Dr. Eichinger has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Roche. Dr. Eichinger has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for TRiNDS. The institution of Dr. Eichinger has received research support from Charcot Marie Tooth Association. The institution of Dr. Eichinger has received research support from Muscular Dystrophy Association. Dr. Eichinger has received intellectual property interests from a discovery or technology relating to health care.
	No disclosure on file
	No disclosure on file
James E. Hilbert, MS (University of Rochester)	Mr. Hilbert has nothing to disclose.
Anika Varma (Center for Health + Technology, University of Rochester)	Anika Varma has nothing to disclose.
Michael McDermott	No disclosure on file
Charles A. Thornton, MD, FAAN (University of Rochester Medical Center)	Dr. Thornton has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Avidity. Dr. Thornton has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Thornton has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Ionis. Dr. Thornton has received personal compensation in the range of $50,000-$99,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Dyne. Dr. Thornton has received personal compensation in the range of $50,000-$99,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Pepgen. The institution of Dr. Thornton has received research support from Marigold Foundation. The institution of Dr. Thornton has received research support from NIH. The institution of Dr. Thornton has received research support from Muscular Dystrophy Association . The institution of Dr. Thornton has received research support from Dyne. The institution of Dr. Thornton has received research support from Avidity. The institution of Dr. Thornton has received research support from Ionis. Dr. Thornton has received intellectual property interests from a discovery or technology relating to health care.
	No disclosure on file

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