Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Sialic Acid in Patients With Glucosamine (UDP-N-acetyl)-2-epimerase Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM)

Summary

The primary objective of this study is to evaluate the effect of 6 g/day aceneuramic acid extended-release (Ace-ER) treatment of participants with GNEM on upper extremity muscle strength (upper extremity composite \[UEC\] score) as measured by dynamometry.

Timeline

Start

2015-05-20

Primary completion

2017-06-09

Completion

2017-06-09

Outcome

Missed primary endpoint

registry analysis (superiority test); Ace-ER 6 g/Day vs Placebo; p = 0.5387 NCT02377921 ↗

paper Ace-ER was not superior to placebo in improving muscle strength and function in patients with GNE myopathy. PMID 31036580 ↗

Publications

• Results Lochmuller H, Behin A, Caraco Y, Lau H, Mirabella M, Tournev I, Tarnopolsky M, Pogoryelova O, Woods C, Lai A, Shah J, Koutsoukos T, Skrinar A, Mansbach H, Kakkis E, Mozaffar T. A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy. Neurology. 2019 Apr 30;92(18):e2109-e2117. doi: 10.1212/WNL.0000000000006932. Epub 2019 Jan 25.
• Tandon PK, Kakkis ED. The multi-domain responder index: a novel analysis tool to capture a broader assessment of clinical benefit in heterogeneous complex rare diseases. Orphanet J Rare Dis. 2021 Apr 19;16(1):183. doi: 10.1186/s13023-021-01805-5.

Drugs

Evaluation	Drug	Modality	Dose	Route
Subject	Sialic Acid	Small molecule	6 g	Oral

Indications