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A safety, tolerability and efficacy study in MPS 7 patients less than 5 years of age receiving enzyme (UX003) replacement by intravenous injectio

Phase 1
Conditions
Mucopolysaccharidosis type 7 (MPS 7, Sly syndrome)
Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Registration Number
EUCTR2015-000104-26-ES
Lead Sponsor
ltragenyx Pharmaceutical Inc.
Brief Summary

Not available

Detailed Description

Not available

Recruitment & Eligibility

Status
ot Recruiting
Sex
Not specified
Target Recruitment
8
Inclusion Criteria

-Confirmed diagnosis of MPS 7 based on leukocyte or fibroblast glucuronidase enzyme assay, or genetic testing
-Under 5 years of age at the time of informed consent
-Written informed consent of Legally Authorized Representative after the nature of the study has been explained, and prior to any research-related procedures
Are the trial subjects under 18? yes
Number of subjects for this age range: 15
F.1.2 Adults (18-64 years) no
F.1.2.1 Number of subjects for this age range 0
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range 0

Exclusion Criteria

-Undergone a successful bone marrow or stem cell transplant or has evidence of any degree of detectable chimaerism with donor cells
-Any known hypersensitivity to rhGUS or its excipients that, in the judgment of the Investigator, places the subject at increased risk for adverse effects
-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
-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.
-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.

Study & Design

Study Type
Interventional clinical trial of medicinal product
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
<br> Main Objective: The primary objective is to evaluate the effect of UX003 treatment in pediatric MPS 7 subjects less than 5 years of age on:<br> -Safety and tolerability<br> -Efficacy as determined by the reduction of uGAG excretion<br> ;Secondary Objective: The secondary objective is to evaluate the effect of UX003 on growth velocity and hepatosplenomegaly.;Primary end point(s): Urinary GAG Excretion: the mean percent change in uGAG excretion from Week 0 to Week 48.;<br> Timepoint(s) of evaluation of this end point: Urinary GAG Excretion: Urine samples will be collected every other visit up to Week 12, then<br> every 6 weeks to Week 48, then every 12 weeks to Week 240. And 2 samples will be collected during the baseline week.<br>
Secondary Outcome Measures
NameTimeMethod
Secondary end point(s): Growth and hepatosplenomegaly will be evaluated to compare pretreatment with post treatment effects;<br> Timepoint(s) of evaluation of this end point: -For growth: anthropometrics will be measured every 12 weeks from baseline to Week 240,<br> -For liver/spleen size: will be measured at baseline, Week 12, 24, 48, then every 48 weeks to Week 240<br>
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