NCT01359319

A Phase 1 Study to Evaluate the Safety and Pharmacokinetics of Single and Repeat Doses of Sialic Acid Extended Release (SA-ER) Tables in Patients With Hereditary Inclusion Body Myopathy (HIBM)

Completed Phase 1 Last updated 17 May 2012

What this trial tests

Phase 1 trial testing Sialic Acid Extended Release (SA-ER) Tablets in Hereditary Inclusion Body Myopathy (HIBM) in 26 participants. Completed in 1 May 2012.

Timeline

1 July 2011

Primary endpoint
1 April 2012

1 May 2012

Quick facts

Lead sponsor	Ultragenyx Pharmaceutical Inc
Phase	Phase 1
Status	Completed
Study type	INTERVENTIONAL
Allocation	non randomized
Design	single group
Masking	none
Primary purpose	treatment
Enrollment	26
Start date	1 July 2011
Primary completion	1 April 2012
Estimated completion	1 May 2012
Sites	2 locations across United States

Drugs / interventions tested

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

Conditions studied

• Hereditary Inclusion Body Myopathy (HIBM) — all drugs for Hereditary Inclusion Body Myopathy (HIBM) →

Sponsor

Ultragenyx Pharmaceutical Inc — full company profile →

Who can join

Adults 18 to 70, any sex, with Hereditary Inclusion Body Myopathy (HIBM). 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 safety of repeated doses of Sialic Acid - Extended Release (SA-ER) tablets in patients with HIBM
  Time frame: Each patient may participate approximately 4-6 weeks total, including 2 single dose (fast/fed) treatment periods followed by a 7-day repeat treatment period.
  Safety will be evaluated in terms of the incidence and frequency of treatment-emergent adverse events (TEAEs), including clinically significant changes from baseline to scheduled timepoints in clinical laboratory values, vital signs, or physical and neurologic examination findings. Medical history and reported clinical symptoms, including increasing muscle weakness, fatigue, or pain.

Sponsor's own description

Hereditary Inclusion Body Myopathy (HIBM) is a severe progressive metabolic myopathy caused by a defect in the biosynthetic pathway for sialic acid (SA), a critical component of many muscle proteins, resulting in a deficiency in SA in the muscles of HIBM patients.

The effective replacement of the missing SA substrate is theoretically simple, and, in animal models, replacement with SA showed significant restoration of sialylation biochemistry and excellent reduction in muscle disease. These data show that replacement can achieve significant clinical benefit in muscle pathology, function, and survival.

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. 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
6. Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study.
   Argov Z, Caraco Y, Lau H, Pestronk A, et al · · 2016 · cited 35× · PMID 27854209 · DOI 10.3233/jnd-159900
7. Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy.
   Leoyklang P, Malicdan MC, Yardeni T, Celeste F, et al · · 2014 · cited 21× · PMID 25123033 · DOI 10.2217/bmm.14.2
8. Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis.
   Suzuki N, Mori-Yoshimura M, Nishino I, Aoki M. · · 2025 · cited 3× · PMID 39973407 · DOI 10.1177/22143602241296226