This site became the new on June 19th. Learn more.
Show more Menu IMPORTANT: Listing of a study on this site does not reflect endorsement by the National Institutes of Health. Talk with a trusted healthcare professional before volunteering for a study. Read more... Menu IMPORTANT: Talk with a trusted healthcare professional before volunteering for a study. Read more... Menu
Give us feedback

An Open Label Phase 2 Extension Study of Higher Dose Sialic Acid (ER Tablets + IR Capsules) in Patients With GNE Myopathy

This study is ongoing, but not recruiting participants.
Information provided by (Responsible Party):
Ultragenyx Pharmaceutical Inc Identifier:
First received: April 10, 2013
Last updated: August 14, 2017
Last verified: August 2017
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). The purpose of the study is to measure long term safety and the effects of Sialic Acid-Extended Release (SA-ER) tablets and Sialic Acid-Immediate Release (SA-IR) capsules.

Condition Intervention Phase
GNE Myopathy HIBM Drug: SA-ER tablets and SA-IR capsules Phase 2

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: An Open-label Phase 2 Extension Study to Evaluate the Long Term Safety and Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets and Sialic Acid-Immediate Release (SA-IR) Capsules in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy

Resource links provided by NLM:

Further study details as provided by Ultragenyx Pharmaceutical Inc:

Primary Outcome Measures:
  • Assess long-term safety of SA-ER and SA-IR in HIBM subjects [ Time Frame: approximately 3 years ]

Estimated Enrollment: 56
Actual Study Start Date: June 2013
Estimated Study Completion Date: November 2017
Primary Completion Date: February 2017 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: open label, 12000 mg/day Drug: SA-ER tablets and SA-IR capsules

Detailed 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). Substrate replacement therapy is a potential therapeutic strategy based on the success of replacing missing SA and reducing muscle disease in a relevant mouse model of the human disease (Malicdan et al., 2009). Successful use of SA replacement therapy in humans is believed to depend upon providing steady long-term exposure to the compound in an extended release form (such as Sialic Acid-Extended Release [SA-ER]), given SA's short half-life. Following a Phase 1 study to establish the pharmacokinetics for SA-ER and an ongoing Phase 2 study to assess the pharmacodynamic effect of restoring sialylation of muscle by treatment over 48 weeks, Ultragenyx is conducting this study to evaluate the long term safety and efficacy of an increased dosed of SA-ER combined with Sialic Acid-Immediate Release (SA-IR) capsules as treatment, for up to 36 additional months.

Ages Eligible for Study:   18 Years to 65 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

Inclusion Criteria:

  • Enrollment in, and successful completion of the UX001-CL201 protocol OR (for 10 treatment naïve subjects):

    • Have a confirmed diagnosis of GNE Myopathy
    • Aged 18 -65 years of age, inclusive
    • Able to walk ≥ 200 meters and < 80% of predicted normal during the 6MWT (orthotics and assistive devices allowed)
  • Must be willing and able to provide written, signed informed consent after the nature of the study has been explained, and prior to any research-related procedures
  • Must be willing and able to comply with all study procedures
  • Sexually active subjects must be willing to use an acceptable method of contraception while participating in the study
  • Females of childbearing potential must have a negative pregnancy test at Baseline and be willing to have additional pregnancy tests during the study. Females considered not of childbearing potential include those who have been in menopause for at least two years, or have had tubal ligation at least one year prior to Baseline, or who have had total hysterectomy

Exclusion Criteria:

  • Use of any investigational product (other than SA-ER tablets) to treat GNE Myopathy
  • Ingestion of N-acetyl-D-mannosamine (ManNAc) or similar SA-producing compounds
  • Pregnant or breastfeeding at Baseline or planning to become pregnant (self or partner) at any time during the study• Has had any hypersensitivity to SA or its excipients that, in the judgment of the investigator, places the subject at increased risk for adverse effects
  • Have any co-morbid conditions, including unstable major organ-system disease(s) that in the opinion of the investigator, places the subject at increased risk of complications, interferes with study participation or compliance, or confounds study objectives.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01830972

United States, California
UCLA Medical Center
Los Angeles, California, United States, 90095
United States, Missouri
Washington University School of Medicine
Saint Louis, Missouri, United States, 63110
United States, New York
NYU Medical Center
New York, New York, United States, 10016
Hadassah University Hospital
Jerusalem, Israel
Sponsors and Collaborators
Ultragenyx Pharmaceutical Inc
  More Information

Responsible Party: Ultragenyx Pharmaceutical Inc Identifier: NCT01830972     History of Changes
Other Study ID Numbers: UX001-CL202
Study First Received: April 10, 2013
Last Updated: August 14, 2017

Additional relevant MeSH terms:
Muscular Diseases
Distal Myopathies
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Muscular Dystrophies
Muscular Disorders, Atrophic
Genetic Diseases, Inborn processed this record on August 23, 2017