NCT01517880: GNE Myopathy

A Phase 2 Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Evaluate the Dose and Pharmacodynamic Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy

Completed Phase 2 Last updated 14 June 2016

What this trial tests

Phase 2 trial testing Sialic Acid Extended Release (SA-ER) in GNE Myopathy in 46 participants. Completed in 1 November 2013.

Timeline

1 May 2012

Primary endpoint
1 November 2013

1 November 2013

Quick facts

Lead sponsor	Ultragenyx Pharmaceutical Inc
Phase	Phase 2
Status	Completed
Study type	INTERVENTIONAL
Allocation	randomized
Design	parallel
Masking	quadruple
Primary purpose	treatment
Enrollment	46
Start date	1 May 2012
Primary completion	1 November 2013
Estimated completion	1 November 2013
Sites	4 locations across United States, Israel

Drugs / interventions tested

• Sialic Acid Extended Release (SA-ER) — full drug profile →
• Placebo

Conditions studied

• GNE Myopathy — all drugs for GNE Myopathy →
• Hereditary Inclusion Body Myopathy — all drugs for Hereditary Inclusion Body Myopathy →

Sponsor

Ultragenyx Pharmaceutical Inc — full company profile →

Who can join

Adults 18 to 65, any sex, with GNE Myopathy or Hereditary Inclusion Body Myopathy. Patients with the condition only — healthy volunteers not accepted.

What's being measured

Primary outcomes are the specific endpoints the trial is designed to prove or disprove.

• Evaluate the effect of SA-ER treatment on muscle sialylation, strength, and function in patients with HIBM.
  Time frame: Baseline, Week 24, and Week 48
  To evaluate the effect of SA-ER treatment on improvement of biochemical measures of sialylation and pathology in muscle. On mobility, strength, and function using a series of quantitative and physical performance measures and quality of life using patient-reported outcome measures.

Sponsor's own description

GNE myopathy or hereditary inclusion body myopathy (HIBM) is a severe progressive metabolic myopathy caused by a defect in the biosynthetic pathway for sialic acid (SA).

Publications & conference data

8 peer-reviewed publications reference this trial (live from Europe PMC):

1. GNE myopathy: current update and future therapy.
   Nishino I, Carrillo-Carrasco N, Argov Z. · · 2015 · cited 121× · PMID 25002140 · DOI 10.1136/jnnp-2013-307051
2. Mutation update for GNE gene variants associated with GNE myopathy.
   Celeste FV, Vilboux T, Ciccone C, de Dios JK, et al · · 2014 · cited 95× · PMID 24796702 · DOI 10.1002/humu.22583
3. GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges.
   Carrillo N, Malicdan MC, Huizing M. · · 2018 · cited 69× · PMID 30338442 · DOI 10.1007/s13311-018-0671-y
4. CDG Therapies: From Bench to Bedside.
   Brasil S, Pascoal C, Francisco R, Marques-da-Silva D, et al · · 2018 · cited 66× · PMID 29702557 · DOI 10.3390/ijms19051304
5. A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy.
   Lochmüller H, Behin A, Caraco Y, Lau H, et al · · 2019 · cited 53× · PMID 31036580 · DOI 10.1212/wnl.0000000000006932
6. Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy.
   Cho A, Christine M, Malicdan V, Miyakawa M, et al · · 2017 · cited 48× · PMID 28505249 · DOI 10.1093/hmg/ddx192
7. Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion.
   Pogoryelova O, Cammish P, Mansbach H, Argov Z, et al · · 2018 · cited 46× · PMID 29305133 · DOI 10.1016/j.nmd.2017.11.001
8. Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy.
   Niethamer TK, Yardeni T, Leoyklang P, Ciccone C, et al · · 2012 · cited 45× · PMID 23122659 · DOI 10.1016/j.ymgme.2012.10.011