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A Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Therapy in Subjects With Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7)

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ClinicalTrials.gov Identifier: NCT02432144
Recruitment Status : Completed
First Posted : May 1, 2015
Results First Posted : July 30, 2019
Last Update Posted : July 30, 2020
Information provided by (Responsible Party):
Ultragenyx Pharmaceutical Inc

Brief Summary:
The primary objective of the study is to evaluate the long-term safety of UX003 in subjects with MPS 7.

Condition or disease Intervention/treatment Phase
Sly Syndrome MPS VII Mucopolysaccharidosis Mucopolysaccharidosis VII Drug: UX003 Phase 3

Expanded Access : An investigational treatment associated with this study is available outside the clinical trial.   More info ...

Detailed Description:
Participants with MPS 7 who were UX003 treatment-naïve or previously enrolled and treated in a prior clinical study of UX003 (e.g. UX003-CL301 [NCT02230566], investigator sponsored trials, expanded access/compassionate use) can enroll into this treatment and extension study provided all eligibility criteria is met for a given participant.

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 12 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: A Long-Term Open-Label Treatment and Extension Study of UX003 rhGUS Enzyme Replacement Therapy in Subjects With MPS 7
Actual Study Start Date : November 10, 2015
Actual Primary Completion Date : January 14, 2019
Actual Study Completion Date : January 14, 2019

Arm Intervention/treatment
Experimental: UX003
4 mg/kg UX003 every other week (QOW)
Drug: UX003
solution for intravenous (IV) infusion
Other Names:
  • recombinant human beta-glucoronidase
  • rhGUS
  • Mepsevii ™
  • vestronidase alfa
  • vestronidase alfa-vjbk

Primary Outcome Measures :
  1. Number of Participants With Treatment Emergent Adverse Events (TEAEs), Serious TEAEs, and TEAEs Leading to Discontinuation [ Time Frame: From first dose of study drug until 30 days after the last dose of study drug. Mean duration of UX003 treatment was 100.5 weeks. ]
    An adverse event (AE) is defined as any untoward medical occurrence, whether or not considered drug related. A serious AE is an AE 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; or is an important medical event. AEs were graded using the National Cancer Institute Common Terminology Criteria for Adverse Events (NCI CTCAE), version 4.0: Grade 1 (mild), Grade 2 (moderate), Grade 3 (severe), Grade 4 (life-threatening), Grade 5 (death). TEAEs were defined as reported AEs with onset during the treatment.

Secondary Outcome Measures :
  1. Percent Change From Baseline Over Time in Urinary Glycosaminoglycan (uGAG) Excretion (Liquid Chromatography-Tandem Mass Spectrometry, Dermatan Sulfate) [ Time Frame: Baseline (prior to the first dose of study drug in UX003-CL301), Weeks 0, 12, 24, 36, 48, 60, 72, 84, 96, 108, 120, 132, 144 ]
    First morning void urine was evaluated for uGAG concentration and normalized to urinary creatinine concentration.

Information from the National Library of Medicine

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Ages Eligible for Study:   5 Years and older   (Child, Adult, Older Adult)
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.
  • Willing and able to provide written, signed 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.
  • Willing and able to comply with all study 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 Baseline 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 completion of the primary study, or have had total hysterectomy.
  • For UX003 treatment-naïve subjects only, 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.
  • For UX003 treatment-naïve subjects only, elevated urinary glycosaminoglycans (uGAG) excretion at a minimum of 2-fold over normal.
  • For UX003 treatment-naïve subjects only, aged 5 years and older.

Exclusion Criteria:

  • If enrolled in a prior UX003 clinical study, the subject experienced safety-related event(s) in the prior UX003 clinical study that, in the opinion of the Investigator and sponsor, precludes resuming UX003 treatment.
  • Undergone a successful bone marrow or stem cell transplant or has any degree of detectable chimaerism with donor cells.
  • 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 Baseline or planning to become pregnant (self or partner) at any time during the study.
  • Other than the use of UX003, use of any investigational product (drug or device or combination) within 30 days prior to Baseline, 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 study participation.
  • 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.

Information from the National Library of Medicine

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): NCT02432144

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United States, California
Children's Hospital Oakland
Oakland, California, United States, 94609
Children's Hospital of Orange County
Orange, California, United States, 92868
United States, Minnesota
University of Minnesota
Minneapolis, Minnesota, United States, 55455
United States, Texas
Baylor College of Medicine
Houston, Texas, United States, 77030
Hospital Infantil Candido Fontoura Sao Paulo
Sao Paulo, Brazil
Centenario Hospital Miguel Hidalgo, Pediatrics
Aguascalientes, Mexico, 20230
Unidade de Doenças Metabólicas - Centro Hospitalar do Porto
Porto, Portugal, 4050-371
Sponsors and Collaborators
Ultragenyx Pharmaceutical Inc
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Study Director: Medical Director Ultragenyx Pharmaceuticals, Inc.
  Study Documents (Full-Text)

Documents provided by Ultragenyx Pharmaceutical Inc:
Study Protocol  [PDF] July 28, 2016
Statistical Analysis Plan  [PDF] March 8, 2016

Publications of Results:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: Ultragenyx Pharmaceutical Inc
ClinicalTrials.gov Identifier: NCT02432144    
Other Study ID Numbers: UX003-CL202
2015-001875-32 ( EudraCT Number )
First Posted: May 1, 2015    Key Record Dates
Results First Posted: July 30, 2019
Last Update Posted: July 30, 2020
Last Verified: July 2020
Keywords provided by Ultragenyx Pharmaceutical Inc:
Sly Syndrome
Enzyme Replacement Therapy
Rare Disease
Mucopolysaccharidosis Type 7
Lysosomal Storage Disease
Metabolic Disorder
Additional relevant MeSH terms:
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Mucopolysaccharidosis VII
Pathologic Processes
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Connective Tissue Diseases
Metabolic Diseases