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.
Sponsor:
Information provided by (Responsible Party):
Ultragenyx Pharmaceutical Inc
ClinicalTrials.gov Identifier:
NCT01830972
First received: April 10, 2013
Last updated: February 5, 2014
Last verified: February 2014
  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: SA-ER tablets and SA-IR capsules
Phase 2

Study Type: Interventional
Study Design: Endpoint Classification: Safety/Efficacy Study
Intervention Model: Single Group Assignment
Masking: 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 ] [ Designated as safety issue: Yes ]

Estimated Enrollment: 56
Study Start Date: June 2013
Estimated Primary Completion Date: June 2016 (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.

  Eligibility

Ages Eligible for Study:   18 Years to 65 Years
Genders Eligible for Study:   Both
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
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 ClinicalTrials.gov identifier: NCT01830972

Locations
United States, California
UCLA Medical Center
Los Angeles, California, United States, 90095
United States, Missouri
Washington University School of Medicine
St. 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

No publications provided

Responsible Party: Ultragenyx Pharmaceutical Inc
ClinicalTrials.gov Identifier: NCT01830972     History of Changes
Other Study ID Numbers: UX001-CL202
Study First Received: April 10, 2013
Last Updated: February 5, 2014
Health Authority: United States: Food and Drug Administration

Additional relevant MeSH terms:
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases

ClinicalTrials.gov processed this record on July 24, 2014