Study to Evaluate the Safety and Efficacy of Aceneuramic Acid Extended-Release (Ace-ER) Tablets in Patients With Glucosamine (UDP-N-acetyl)-2-epimerase Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM)
Condition: Hereditary Inclusion Body Myopathy; Distal Myopathy With Rimmed Vacuoles; Distal Myopathy, Nonaka Type; GNE Myopathy; Quadriceps Sparing Myopathy
MeSH terms: Muscular Diseases; Distal Myopathies
Intervention: Aceneuramic Acid Extended-Release Tablets
Phase: Phase 3
Study type: Interventional
Primary purpose: Treatment
Intervention model: Single Group Assignment
Masking: None (Open Label)
Enrollment: 143.0
Sex: All
Minimum age: 18 Years
Healthy volunteers: No
Keywords: GNE Myopathy; GNEM; Nonaka; Hereditary Inclusion Body Myopathy; HIBM; DMRV; QSM

Summary:

      The objective of this study is to evaluate the long-term safety and efficacy of Ace-ER
      treatment in subjects with GNEM.
    

Eligibility criteria:

        Inclusion Criteria:

          -  Have completed UX001-CL202, UX001-CL301 or UX001-CL203 study

          -  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

          -  Willing to comply with all study procedures

          -  Female participants of child-bearing potential or male participants with female
             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 30 days 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:

        Individuals who meet any of the following exclusion criteria will not be eligible to
        participate in the study:

          -  Ingestion of N-acetyl-D-mannosamine (ManNAc) 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

          -  Has had any hypersensitivity to sialic acid (SA) or its excipients that, in the
             judgment of the investigator, places the subject at increased risk for adverse effects

          -  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