Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Treatment in Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) Patients Less Than 5 Years of Age

• Register: ClinicalTrials.gov
• Last refreshed on: 12 December 2020
• Main ID: NCT02418455
• Date of registration: 12/04/2015
• Prospective Registration: Yes
• Primary sponsor: Ultragenyx Pharmaceutical Inc
• Public title: Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Treatment in Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) Patients Less Than 5 Years of Age
• Scientific title: An Open-label Study of UX003 rhGUS Enzyme Replacement Therapy in MPS 7 Patients Less Than 5 Years Old
• Date of first enrolment: July 21, 2015
• Target sample size: 8
• Recruitment status: Completed
• URL: https://clinicaltrials.gov/show/NCT02418455
• Study type: Interventional
• Study design: Allocation: N/A. Intervention model: Single Group Assignment. Primary purpose: Treatment. Masking: None (Open Label).
• Phase: Phase 2

Countries of recruitment

Portugal, Spain, United States

Contacts

• Name: Medical Director
• Affiliation: Ultragenyx Pharmaceutical Inc

Key inclusion & exclusion criteria

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 enzyme
replacement therapy (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.



Age minimum: N/A
Age maximum: 5 Years
Gender: All

Health Condition(s) or Problem(s) studied

Mucopolysaccharidosis VII

Mucopolysaccharidosis

MPS VII

Sly Syndrome

Intervention(s)

Drug: UX003

Primary Outcome(s)

Number of Participants With Treatment Emergent Adverse Events (TEAEs), Serious TEAEs, and Discontinuations Due to TEAEs [Time Frame: From first dose of study drug until 30 days after the last dose of study drug. Mean (SD) treatment duration was 98.11 (29.02) weeks]

Percent Change From Baseline in uGAG Excretion (LC-MS/MS-DS) at Week 48 [Time Frame: Baseline (Week 0), Week 48]

Secondary Outcome(s)

Change From Baseline Over Time in Standing Height Z-Score [Time Frame: Baseline, Weeks 12, 24, 36, 48, 60, 72, 84, 96, 108, 120, 132]

Change From Baseline Over Time in Liver Measurement [Time Frame: Baseline, Weeks 12, 24, 48, 96, 144]

Change From Baseline Over Time in Head Circumference Z-Score [Time Frame: Baseline, Weeks 12, 24, 36, 48]

Change From Baseline Over Time in Spleen Measurement [Time Frame: Baseline, Weeks 12, 24, 48, 96, 144]

Change From Pre-Treatment (Within 2 Years) to Post-Treatment Growth Velocity Z-Score [Time Frame: Pre-treatment (based on standing height within 2 years prior to treatment), Post-treatment (based on all standing height data during the study period up to Week 48)]

Change From Baseline Over Time in Standing Height [Time Frame: Baseline, Weeks 12, 24, 36, 48, 60, 72, 84, 96, 108, 120, 132]

Post-UX003 Growth Velocity (cm/yr) for Participants With Both Historical Pre-UX003 (Within 2 Years) and Post-UX003 Data [Time Frame: Pre-treatment (based on standing height within 2 years prior to treatment), Post-treatment (based on all standing height data during the study period up to 240 weeks)]

Change From Baseline Over Time in Head Circumference [Time Frame: Baseline, Weeks 12, 24, 36, 48, 60, 72, 84, 96, 108, 120, 132]

Change From Baseline Over Time in Weight [Time Frame: Baseline, Weeks 12, 24, 36, 48, 60, 72, 84, 96, 108, 120, 132]

Secondary ID(s)

UX003-CL203

2015-000104-26

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Results

• Results available: Yes
• Date Posted: 16/10/2019
• URL: https://clinicaltrials.gov/ct2/show/results/NCT02418455