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

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT01830972
First Posted: April 12, 2013
Last Update Posted: September 15, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Information provided by (Responsible Party):
Ultragenyx Pharmaceutical Inc
  Purpose
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: 6g/day SA-ER tablets Drug: 6g/day SA-ER tablets and 6g/day SA-IR capsules Drug: 12g/day SA-ER Phase 2

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Crossover 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 ]

Enrollment: 59
Actual Study Start Date: June 4, 2013
Study Completion Date: February 14, 2017
Primary Completion Date: February 14, 2017 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Part I: Open Label, 6g/day SA-ER
Part I: 6g/day of SA-ER for 12 weeks
Drug: 6g/day SA-ER tablets
Experimental: Part II: Open Label, 6g/day SA-ER and 6g/day SA-IR
Part II: Subjects in Part I plus 10 treatment naive subjects. 6g/day SA-ER plus 6g/day SA-IR
Drug: 6g/day SA-ER tablets and 6g/day SA-IR capsules
Experimental: Part IIIa: Open Label, cohort of 6g/day SA-ER
Part III: 6g/day SA-ER
Drug: 6g/day SA-ER tablets
Experimental: Part IIIb: Open Label, cohort of 6g/day SA-ER and 6g/day SA-IR
Part IIIb: 6g/day SA-ER and 6g/day SA-IR
Drug: 6g/day SA-ER tablets and 6g/day SA-IR capsules
Experimental: Part IVa: Open Label, cohort of 6g/day SA-ER
Part IVa: 6g/day SA-ER
Drug: 6g/day SA-ER tablets
Experimental: Part IVb: Open Label, cohort of 12g/day SA-ER
Part IVb: 12g/day SA-ER
Drug: 12g/day SA-ER

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.
  Eligibility

Information from the National Library of Medicine

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

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
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01830972


Locations
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
Israel
Hadassah University Hospital
Jerusalem, Israel
Sponsors and Collaborators
Ultragenyx Pharmaceutical Inc
  More Information

Responsible Party: Ultragenyx Pharmaceutical Inc
ClinicalTrials.gov Identifier: NCT01830972     History of Changes
Other Study ID Numbers: UX001-CL202
First Submitted: April 10, 2013
First Posted: April 12, 2013
Last Update Posted: September 15, 2017
Last Verified: September 2017

Additional relevant MeSH terms:
Muscular Diseases
Distal Myopathies
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Muscular Dystrophies
Muscular Disorders, Atrophic
Genetic Diseases, Inborn