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
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ClinicalTrials.gov Identifier: NCT02418455 |
Recruitment Status :
Completed
First Posted : April 16, 2015
Results First Posted : October 16, 2019
Last Update Posted : October 30, 2019
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Condition or disease | Intervention/treatment | Phase |
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Sly Syndrome MPS VII Mucopolysaccharidosis Mucopolysaccharidosis VII | Drug: UX003 | Phase 2 |
Expanded Access : An investigational treatment associated with this study is available outside the clinical trial. More info ...
Study Type : | Interventional (Clinical Trial) |
Actual Enrollment : | 8 participants |
Allocation: | N/A |
Intervention Model: | Single Group Assignment |
Masking: | None (Open Label) |
Primary Purpose: | Treatment |
Official Title: | An Open-label Study of UX003 rhGUS Enzyme Replacement Therapy in MPS 7 Patients Less Than 5 Years Old |
Actual Study Start Date : | July 21, 2015 |
Actual Primary Completion Date : | March 26, 2019 |
Actual Study Completion Date : | March 26, 2019 |

Arm | Intervention/treatment |
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Experimental: UX003
UX003 4 mg/kg every other week (QOW). Initial treatment period 48 weeks. Continuation period up to 240 weeks.
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Drug: UX003
solution for intravenous infusion
Other Names:
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- Percent Change From Baseline in uGAG Excretion (LC-MS/MS-DS) at Week 48 [ Time Frame: Baseline (Week 0), Week 48 ]Liquid chromatography-mass spectrometry/mass spectrometry-dermatan sulfate (LS-MS/MS-DS) method. For the participant previously treated with UX003 under an eIND, percent change from initial baseline was used.
- 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 ]Adverse event (AE): any untoward medical occurrence in a participant, whether or not considered drug related. Serious AE (SAE): an AE or suspected adverse reaction that at any dose results in any of the following outcomes: death; a life-threatening AE; inpatient hospitalization or prolongation of existing hospitalization; persistent or significant incapacity or substantial disruption of the ability to conduct normal life functions; a congenital anomaly/birth defect. Other important medical events may also, in the opinion of the Investigator, be considered SAEs. An AE was considered a TEAE if it occurred on or after the first dose, and was not present prior to the first dose, or it was present at the first dose but increased in severity during the study. Events recorded as either possibly, probably, or definitely related to treatment were categorized as related. AE severity was graded using the National Cancer Institute's Common Terminology Criteria for Adverse Events, Version 4.03.
- Change From Baseline Over Time in Standing Height [ Time Frame: Baseline, Weeks 12, 24, 36, 48, 60, 72, 84, 96, 108, 120, 132 ]For all participants (including the participant previously treated with UX003 under an eIND), the last non-missing study assessment prior to the first dose in this study was used as baseline.
- 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 ]
The Z-score indicates the number of standard deviations away from a reference population (from the CDC growth charts) in the same age range and with the same sex. A Z-score of 0 is equal to the mean with negative numbers indicating values lower than the mean and positive values higher. Higher Z-scores indicate a better outcome.
For all participants (including the participant previously treated with UX003 under an eIND), the last non-missing study assessment prior to the first dose in this study was used as baseline.
- Change From Baseline Over Time in Head Circumference [ Time Frame: Baseline, Weeks 12, 24, 36, 48, 60, 72, 84, 96, 108, 120, 132 ]For all participants (including the participant previously treated with UX003 under an eIND), the last non-missing study assessment prior to the first dose in this study was used as baseline.
- Change From Baseline Over Time in Head Circumference Z-Score [ Time Frame: Baseline, Weeks 12, 24, 36, 48 ]
The Z-score indicates the number of standard deviations away from a reference population (from the CDC growth charts) in the same age range and with the same sex. A Z-score of 0 is equal to the mean with negative numbers indicating values lower than the mean and positive values higher. Higher Z-scores indicate a better outcome.
For all participants (including the participant previously treated with UX003 under an eIND), the last non-missing study assessment prior to the first dose in this study was used as baseline.
- Change From Baseline Over Time in Weight [ Time Frame: Baseline, Weeks 12, 24, 36, 48, 60, 72, 84, 96, 108, 120, 132 ]For all participants (including the participant previously treated with UX003 under an eIND), the last non-missing study assessment prior to the first dose in this study was used as baseline.
- 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) ]The growth velocity for pre-treatment is based on standing height within 2 years prior to treatment. The growth velocity for post-treatment is based on all standing height data during the study period. For the participant previously treated with UX003 under an eIND, the growth velocity was calculated for pre initial UX003 treatment and post initial UX003 treatment.
- 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) ]
The Z-score indicates the number of standard deviations away from a reference population (based on Tanner's standard [Tanner et al. 1985]) in the same age range and with the same sex. A Z-score of 0 is equal to the mean with negative numbers indicating values lower than the mean and positive values higher. Higher Z-scores indicate a better outcome.
The growth velocity for pre-treatment is based on standing height within 2 years prior to treatment. The growth velocity for post-treatment is based on all standing height data during the study period. For the participant previously treated with UX003 under an eIND, the growth velocity was calculated for pre initial UX003 treatment and post initial UX003 treatment.
- Change From Baseline Over Time in Liver Measurement [ Time Frame: Baseline, Weeks 12, 24, 48, 96, 144 ]For all participants (including the participant previously treated with UX003 under an eIND), the last non-missing study assessment prior to the first dose in this study was used as baseline.
- Change From Baseline Over Time in Spleen Measurement [ Time Frame: Baseline, Weeks 12, 24, 48, 96, 144 ]For all participants (including the participant previously treated with UX003 under an eIND), the last non-missing study assessment prior to the first dose in this study was used as baseline.

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Ages Eligible for Study: | 1 Day to 5 Years (Child) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
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.
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 enzyme replacement therapy (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.

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02418455
United States, District of Columbia | |
Children's National Health System | |
Washington, District of Columbia, United States, 20010 | |
United States, New York | |
New York University Langone Medical Center | |
New York, New York, United States, 10038 | |
United States, Utah | |
University of Utah Hospital | |
Salt Lake City, Utah, United States, 84132 | |
Portugal | |
Centro Hospitalar do Porto | |
Porto, Portugal, 4099-345 | |
Spain | |
Hospital Universitario Virgen Del Rocio | |
Sevilla, Spain, 41013 |
Study Director: | Medical Director | Ultragenyx Pharmaceutical Inc |
Documents provided by Ultragenyx Pharmaceutical Inc:
Responsible Party: | Ultragenyx Pharmaceutical Inc |
ClinicalTrials.gov Identifier: | NCT02418455 |
Other Study ID Numbers: |
UX003-CL203 2015-000104-26 ( EudraCT Number ) |
First Posted: | April 16, 2015 Key Record Dates |
Results First Posted: | October 16, 2019 |
Last Update Posted: | October 30, 2019 |
Last Verified: | October 2019 |
MPS 7 Sly Syndrome MPS VII Enzyme Replacement Therapy |
Rare Disease Mucopolysaccharidosis type 7 Lysosomal Storage Disease Metabolic Disorder |
Mucopolysaccharidoses Mucopolysaccharidosis VII Syndrome Disease Pathologic Processes Carbohydrate Metabolism, Inborn Errors |
Metabolism, Inborn Errors Genetic Diseases, Inborn Lysosomal Storage Diseases Mucinoses Connective Tissue Diseases Metabolic Diseases |