A Phase 3 Study of UX003 Recombinant Human Betaglucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7)
MPS 7, Sly Syndrome, Mucopolysaccharidosis
About this trial
This is an interventional treatment trial for MPS 7 focused on measuring MPS 7, Sly Syndrome, Mucopolysaccharidosis, MPS VII, Enzyme Replacement Therapy, Mucopolysaccharidosis type 7, rare disease, lysosomal storage disease, metabolic disorder
Eligibility Criteria
Inclusion Criteria:
- Confirmed diagnosis of MPS 7 based on leukocyte or fibroblast glucuronidase enzyme assay or genetic testing.
- Elevated urinary glycosaminoglycan (uGAG) excretion at a minimum of 3-fold over the mean normal for age (at Screening).
- 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.
- Aged 5 - 35 years, inclusive.
- Willing and able to provide written 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.
- 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 Screening 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 Screening, or who have had total hysterectomy.
- Naïve to treatment with UX003.
Exclusion Criteria:
- Undergone a successful bone marrow or stem cell transplant or has any degree of detectable chimaerism with donor cells.
- Major surgery within 3 months prior to study entry or planned major surgery during the study that may not allow safe participation in the study.
- 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 Screening or planning to become pregnant (self or partner) at any time during the study.
- Use of any investigational product (drug or device or combination) within 30 days prior to Screening, 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 participation in the study.
- 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.
Sites / Locations
- Children's Hospital Oakland
- Children's Hospital of Orange County
- Miami Children's Hospital
- University of Minnesota
Arms of the Study
Arm 1
Arm 2
Arm 3
Arm 4
Experimental
Experimental
Experimental
Experimental
Group A: 4 mg/kg UX003
Group B: 8 Weeks Placebo then 4 mg/kg UX003
Group C: 16 Weeks Placebo then 4 mg/kg UX003
Group D: 24 Weeks Placebo then 4 mg/kg UX003
4 mg/kg UX003 QOW through Week 46
Placebo QOW for the first 8 weeks followed by 4 mg/kg UX003 QOW through Week 46
Placebo QOW for the first 16 weeks followed by 4 mg/kg UX003 QOW through Week 46
Placebo QOW for the first 24 weeks followed by 4 mg/kg UX003 QOW through Week 46