A Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Therapy in Subjects With Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7)
Condition: Sly Syndrome; MPS VII; Mucopolysaccharidosis; Mucopolysaccharidosis VII
MeSH terms: Mucopolysaccharidoses; Mucopolysaccharidosis VII; Syndrome
Intervention: UX003
Intervention description: solution for intravenous (IV) infusion
Phase: Phase 3
Study type: Interventional
Primary purpose: Treatment
Intervention model: Single Group Assignment
Masking: None (Open Label)
Enrollment: 12.0
Sex: All
Minimum age: 5 Years
Healthy volunteers: No
Keywords: MPS 7; Sly Syndrome; MPS VII; Enzyme Replacement Therapy; Rare Disease; Mucopolysaccharidosis Type 7; Lysosomal Storage Disease; Metabolic Disorder

Summary:

      The primary objective of the study is to evaluate the long-term safety of UX003 in subjects
      with MPS 7.
    

Eligibility criteria:

        Inclusion Criteria:

          -  Confirmed diagnosis of MPS 7 based on leukocyte or fibroblast glucuronidase enzyme
             assay or genetic testing.

          -  Willing and able to provide written, signed informed consent or, in the case of
             subjects under the age of 18 (or 16 years, depending on the region), provide written
             assent (if required) and written informed consent by a legally authorized
             representative after the nature of the study has been explained, and prior to any
             research-related procedures.

          -  Willing and able to comply with all study procedures.

          -  Sexually active subjects must be willing to use acceptable, highly-effective methods
             of contraception while participating in the study and for 30 days following the last
             dose.

          -  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 not experienced menarche, or have had
             tubal ligation at least one year prior to completion of the primary study, or have had
             total hysterectomy.

          -  For UX003 treatment-naïve subjects only, apparent clinical signs of lysosomal storage
             disease as judged by the Investigator, including at least one of the following:
             enlarged liver and spleen, joint limitations, airway obstruction or pulmonary
             problems, limitation of mobility while still ambulatory.

          -  For UX003 treatment-naïve subjects only, elevated urinary glycosaminoglycans (uGAG)
             excretion at a minimum of 2-fold over normal.

          -  For UX003 treatment-naïve subjects only, aged 5 years and older.

        Exclusion Criteria:

          -  If enrolled in a prior UX003 clinical study, the subject experienced safety-related
             event(s) in the prior UX003 clinical study that, in the opinion of the Investigator
             and sponsor, precludes resuming UX003 treatment.

          -  Undergone a successful bone marrow or stem cell transplant or has any degree of
             detectable chimaerism with donor cells.

          -  Presence or history of any hypersensitivity to rhGUS or its excipients that, in the
             judgment of the Investigator, places the subject at increased risk for adverse
             effects.

          -  Pregnant or breastfeeding at Baseline or planning to become pregnant (self or partner)
             at any time during the study.

          -  Other than the use of UX003, use of any investigational product (drug or device or
             combination) within 30 days prior to Baseline, or requirement for any investigational
             agent prior to completion of all scheduled study assessments.

          -  Presence of a condition of such severity and acuity that, in the opinion of the
             Investigator, warrants immediate surgical intervention or other treatment or may not
             allow safe study participation.

          -  Concurrent disease or condition, or laboratory abnormality 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 introduce
             additional safety concerns.