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Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Sialic Acid in Patients With GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) (GNEM)

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT02377921
First Posted: March 4, 2015
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
UX001-CL301 is a randomized, double-blind, placebo-controlled study to assess the safety and efficacy of 6 g/day sialic acid - extended release (SA-ER) treatment as compared with placebo in subjects with GNE Myopathy.

Condition Intervention Phase
Hereditary Inclusion Body Myopathy Distal Myopathy With Rimmed Vacuoles Distal Myopathy, Nonaka Type Drug: Sialic Acid Tablets Drug: Placebo Tablets Phase 3

Study Type: Interventional
Study Design: Allocation: Randomized
Intervention Model: Parallel Assignment
Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
Primary Purpose: Treatment
Official Title: A Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Sialic Acid Extended-Release Tablets in Patients With GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM)

Resource links provided by NLM:


Further study details as provided by Ultragenyx Pharmaceutical Inc:

Primary Outcome Measures:
  • GNEM Upper Extremity Muscle Strength Composite [ Time Frame: Change from Baseline at Weeks 8, 16, 24, 32, 40, and 48 ]
    Upper extremity muscle strength will be measured by dynamometry


Secondary Outcome Measures:
  • GNEM-FAS Mobility Domain Score [ Time Frame: Change from Baseline at Weeks 8, 16, 24, 32, 40, and 48 ]
  • Lower Extremity Muscle Strength Composite [ Time Frame: Change from Baseline at Weeks 8, 16, 24, 32, 40, and 48 ]
    Lower extremity muscle strength will be measured by dynamometry

  • Lower Extremity Muscle Strength in the Knee Extensors [ Time Frame: Change from Baseline at Weeks 8, 16, 24, 32, 40, and 48 ]
    Lower extremity muscle strength in the knee extensors will be measured by dynamometry


Enrollment: 89
Actual Study Start Date: May 27, 2015
Study Completion Date: June 9, 2017
Primary Completion Date: June 9, 2017 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Sialic Acid - Extended Release Tablets
Patients may be randomized to the experimental arm. Patients randomized to this arm will take 12 tablets of SA-ER per day. The total daily dose will be achieved by taking 4 tablets 3 times per day (in the morning, in the early evening, and before bedtime). Each dose should be taken with food (ie, within 30 minutes after a meal or a snack.) Approximately 80 subjects will be randomized in a 1:1 ratio to receive SA-ER or matching placebo for 48 weeks.
Drug: Sialic Acid Tablets
Other Name: UX001
Placebo Comparator: Placebo Tablets
Patients may be randomized to the placebo comparator arm. Patients randomized to this arm will take 12 tablets of placebo per day. The total daily dose will be achieved by taking 4 tablets 3 times per day (in the morning, in the early evening, and before bedtime). Each dose should be taken with food (ie, within 30 minutes after a meal or a snack.) Approximately 80 subjects will be randomized in a 1:1 ratio to receive SA-ER or matching placebo for 48 weeks.
Drug: Placebo Tablets

  Eligibility

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 55 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

  • Male or female, aged 18 to 55 years, inclusive
  • Willing and able to provide written, signed informed consent after the nature of the study has been explained, and before any research-related procedures are conducted
  • Have a documented diagnosis of GNEM, HIBM, DMRV, or Nonaka disease due to previously demonstrated mutations in the gene encoding the GNE/MNK enzyme (genotyping will not be conducted in this study)
  • Able to provide reproducible force in elbow flexors (i.e. two dynamometry force values with no more than 15% variability in the dominant arm) at Screening
  • Able to walk a minimum of 200 meters during the 6MWT at Screening without the use of assistive devices, including a cane, crutch(es), walker, wheelchair or scooter (AFOs are permitted)
  • Willing and able to comply with all study procedures
  • Participants of child‐bearing potential or with partners of child-bearing potential who have not undergone a bilateral salpingo‐oophorectomy and are sexually active must consent to use a highly effective method of contraception as determined by the site investigator (i.e. oral hormonal contraceptives, patch hormonal contraceptives, vaginal ring, intrauterine device, physical double-barrier methods, surgical hysterectomy, vasectomy, tubal ligation, or true abstinence [when this is in line with the preferred and usual lifestyle of the subject], which means not having sex because the subject chooses not to), from the period following the signing of the informed consent through 3 months after last dose of study drug
  • Females of childbearing potential must have a negative pregnancy test at Screening 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, have had tubal ligation at least one year prior to Screening, or who have had a total hysterectomy or bilateral salpingo‐oophorectomy

Exclusion Criteria:

  • Ingestion of N-acetyl-D-mannosamine (ManNAc), SA, or related metabolites; intravenous immunoglobulin (IVIG); or anything that can be metabolized to produce SA in the body within 60 days prior to the Screening Visit
  • History of more than 30 days treatment with SA-ER and/or SA-IR in prior clinical trials in the past year
  • 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
  • Has serum transaminase (i.e. aspartate aminotransferase [AST] or gamma-glutamyl transpeptidase [GGT]) levels greater than 3X the upper limit of normal (ULN) for age/gender, or serum creatinine of greater than 2X ULN at Screening
  • Pregnant or breastfeeding at Screening or planning to become pregnant (self or partner) at any time during the study
  • Use of any investigational product or investigational medical device within 30 days prior to Screening, or anticipated requirement for any investigational agent prior to completion of all scheduled study assessments
  • Has a condition of such severity and acuity, in the opinion of the investigator, that it warrants immediate surgical intervention or other treatment or may not allow safe participation in the study
  • Has a concurrent disease, active suicidal ideation, or other condition that, in the view of the investigator, places the subject at high risk of poor treatment compliance or of not completing the study, or would interfere with study participation or would affect safety
  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): NCT02377921


Locations
United States, California
University of California, Irvine
Irvine, California, United States, 92697
United States, Missouri
Washington University School of Medicine
Saint Louis, Missouri, United States, 63110
United States, New York
New York University School of Medicine
New York, New York, United States, 10016
Icahn School of Medicine at Mount Sinai
New York, New York, United States, 10029
Bulgaria
UMHAT "Alexandrovska"
Sofia, Bulgaria
Canada, Ontario
McMaster University
Hamilton, Ontario, Canada, L8N3Z5
France
CHU La Réunion - site GHSR
Saint-Pierre, Reunion, France
Institut de Myologie GH Pitié-Salpêtrière
Paris, France
Israel
Hadassah-Hebrew University Medical Center
Jerusalem, Israel
Italy
University of Messina
Messina, Italy
University of Milan
Milan, Italy
Università Cattolica
Rome, Italy
United Kingdom
The Newcastle upon Tyne Hospitals
Newcastle Upon Tyne, Tyne and Wear, United Kingdom, NE1 4LP
Sponsors and Collaborators
Ultragenyx Pharmaceutical Inc
  More Information

Responsible Party: Ultragenyx Pharmaceutical Inc
ClinicalTrials.gov Identifier: NCT02377921     History of Changes
Other Study ID Numbers: UX001-CL301
First Submitted: February 27, 2015
First Posted: March 4, 2015
Last Update Posted: September 15, 2017
Last Verified: September 2017

Keywords provided by Ultragenyx Pharmaceutical Inc:
GNE Myopathy
GNEM
HIBM
Nonaka
Hereditary Inclusion Body Myopathy
DMRV

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