Abstract Details

Title Oral sialic acid extended release (SA-ER) stabilizes upper extremity muscle strength in human GNE myopathy: A phase 2 study.

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) (-)

Poster/Presentation
Number 007

Objective

Background

Design/Methods Double-blind 48 week study in 47 patients who were randomized to placebo, 3 g or 6 g of SA-ER/day PO for 24 weeks, then placebo patients crossed to 3 g or 6 g for additional 24 weeks. The analyses compared change from baseline at week 24 for 6g or 3g versus placebo and for 48 weeks for combined 6 g vs. combined 3 g groups. Assessments included muscle strength by dynamometry [composites of upper extremity (UEC), lower extremity (LEC) muscles], 6 minute walk test (6MWT) test, an HIBM-specific patient reported outcome (GNEM-FAS) and safety.

Results At 24 weeks, the UEC in the 6 g group showed a significant improvement over placebo (+2.33kg, p=0.04); at 48 weeks, the combined 6g group was improved over the combined 3 g groups (+3.44 kg, p=0.0033), especially in >200m baseline walking predefine subset (+4.70 kg, p<0.001). The LEC showed a similar pattern without a statistically significant difference. The 6MWT did not change. The GNEM-FAS measure showed a positive trend in total (p=0.087), mobility (p=0.087) and UE scores (p=0.096) in the combined 6 g vs 3 g groups at 48 weeks. SA-ER was well tolerated without serious adverse events.

Conclusions These are the first human clinical data suggesting that 6g/day SA-ER has a clinically meaningful effect of stabilizing UEC muscle strength over 48 weeks in GNE myopathy.

Authors/Disclosures
Zohar Argov, MD (Hadassah Hebrew University Medical Center)	No disclosure on file
	No disclosure on file
Heather Lau, MD (Ultragenyx)	Dr. Lau has received personal compensation for serving as an employee of Ultragenyx. Dr. Lau has stock in Ultragenyx.
Alan Pestronk, MD, FAAN (Washington University in Saint Louis - Neurology)	The institution of Dr. Pestronk has received research support from Jain. The institution of Dr. Pestronk has received research support from Fulcrum. The institution of Dr. Pestronk has received research support from Argenyx. The institution of Dr. Pestronk has received research support from NeuroNext.
Perry Shieh, MD, PhD, FAAN (UCLA)	Dr. Shieh has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Sarepta. Dr. Shieh has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Genentech. Dr. Shieh has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Biogen. Dr. Shieh has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Alexion. Dr. Shieh has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Argenx. Dr. Shieh has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for UCB. Dr. Shieh has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for CSL Behring. Dr. Shieh has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Grifols. Dr. Shieh has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Alexion. Dr. Shieh has received personal compensation in the range of $50,000-$99,999 for serving on a Speakers Bureau for Biogen. Dr. Shieh has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Genentech. Dr. Shieh has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Argenx. Dr. Shieh has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Catalyst.
	No disclosure on file
	No disclosure on file
Emil Kakkis, MD, PhD	No disclosure on file
Ruth-Ann Marrie, MD, PhD (University of Manitoba)	The institution of Dr. Marrie has received research support from CIHR. The institution of Dr. Marrie has received research support from MS Canada. The institution of Dr. Marrie has received research support from National MS Society. The institution of Dr. Marrie has received research support from Crohn's and Colitis Canada. The institution of Dr. Marrie has received research support from US Department of Defense. The institution of Dr. Marrie has received research support from The Arthritis Society. The institution of Dr. Marrie has received research support from CMSC.

��ɫ��

��ɫ��