Principal Investigator: Dave Viskochil
Keywords: MPS & , Sly Syndrome , UX003 enzyme replacement , mucopolysaccharidosis type 7 Department: Pediatric Genetics
IRB Number: 00081410 Co Investigator: Nicola Longo
Specialty: Pediatric Genetics
Sub Specialties: Medical Genetics
Recruitment Status: Recruiting

Contact Information

Carrie Bailey

Brief Summary

UX003-CL203 is an open-label, multicenter, Phase 2 study to assess the safety and efficacy of UX003
in pediatric MPS 7 subjects. The study seeks to enroll up to 7 subjects less than 5 years of age at the time of informed consent, and will attempt to include infants with hydrops fetalis, if possible. In the initial 48 weeks of treatment, subjects will receive UX003 via intravenous (IV) infusion at a dose of 4 mg/kg every other week (QOW). Subjects who complete the 48-week study may choose to continue UX003 treatment in the Continuation Period up to 240 weeks, or until the patient withdraws consent, the patient is discontinued from the study at the discretion of the Investigator or Ultragenyx, the study is terminated, or UX003 becomes commercially available.
Primary Objective:
The primary objective is to evaluate the effect of UX003 treatment in pediatric MPS 7 subjects less
than 5 years of age on:
• Safety and tolerability
• Efficacy as determined by the reduction of uGAG excretion
Secondary Objective:
The secondary objective is to evaluate the effect of UX003 on growth velocity and
Tertiary Objectives:
Tertiary objectives are to assess PK and evaluate the effect of UX003 on measures of lysosomal storage, overall clinical change, cardiac and pulmonary function, and functional development.

Inclusion Criteria

1) Confirmed diagnosis of MPS 7 based on leukocyte or fibroblast glucuronidase enzyme assay,
or genetic testing
2) Under 5 years of age at the time of informed consent
3) Written informed consent of Legally Authorized Representative after the nature of the study
has been explained, and prior to any research-related procedures

Exclusion Criteria

1) Undergone a successful bone marrow or stem cell transplant or has evidence of any degree of
detectable chimaerism with donor cells
2) Any known hypersensitivity to rhGUS or its excipients that, in the judgment of the
Investigator, places the subject at increased risk for adverse effects
3) Use of any investigational product (drug or device or combination) other than UX003 within
30 days prior to Screening, or requirement for any investigational agent prior to completion of
all scheduled study assessments at any time during the study
4) Has a condition of such severity and acuity, in the opinion of the Investigator, which may not
allow safe study participation. For patients with hydrops fetalis, the ongoing interventions to
manage fluid balance can be continued; if the addition of ERT is considered a fluid-overload
risk, the individual should be excluded.
5) Has a concurrent disease or 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 affect safety. Since hydropic patients have a high rate of mortality, the
risk of death prior to 1 year of age should not be considered sufficient to exclude the patient
from the study for compliance.