An Open-Label Phase 1/2 Study to Assess the Safety, Efficacy and Dose of Study Drug UX003 Recombinant Human Beta-glucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With MPS 7

This study is ongoing, but not recruiting participants.
Information provided by (Responsible Party):
Ultragenyx Pharmaceutical Inc Identifier:
First received: May 8, 2013
Last updated: January 15, 2015
Last verified: January 2015

UX003-CL201 is an open-label Phase 1/2 study to assess the safety, efficacy, and dose of UX003 in MPS 7 subjects via IV administration every other week (QOW) for 36 weeks with up to an additional 36 weeks from the optional continuation period. Up to 5 subjects, who are between 5 and 30 years of age inclusive, will be enrolled and treated with UX003.

The initial 12-week treatment period will be followed by a 24-week forced dose titration period to assess the optimal dose. Subjects who complete both the initial treatment and forced dose titration periods will continue treatment in a 36 week continuation period

Condition Intervention Phase
Mucopolysaccharidosis Type 7
Drug: UX003
Phase 1
Phase 2

Study Type: Interventional
Study Design: Endpoint Classification: Safety/Efficacy Study
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: An Open-Label Phase 1/2 Study to Assess the Safety, Efficacy and Dose of UX003 rhGUS Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7)

Resource links provided by NLM:

Further study details as provided by Ultragenyx Pharmaceutical Inc:

Primary Outcome Measures:
  • Safety and tolerability of UX003 as measured by severity and number of Adverse Events (AEs) [ Time Frame: 36 weeks ] [ Designated as safety issue: Yes ]
  • Efficacy as determined by reduction of total urinary glycosaminoglycan (uGAG) excretion [ Time Frame: 36 weeks ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Walking capacity as measured by the 6 Minute Walk Test (6MWT). [ Time Frame: 36 weeks ] [ Designated as safety issue: No ]
  • Stair climbing capacity as measured by the 3 Minute Stair Climb Test [ Time Frame: 36 weeks ] [ Designated as safety issue: No ]
  • Pulmonary function as measured by Forced Vital Capacity(FVC), Forced Expiratory Volume (FEV1) and Maximal Voluntary Ventilation (MVV1) [ Time Frame: 36 weeks ] [ Designated as safety issue: No ]
  • Height and weight growth velocity compared to estimated pretreatment growth rate velocity from medical records (prepubertal pediatric patients only). [ Time Frame: 36 weeks ] [ Designated as safety issue: No ]
  • Shoulder range of motion as measured by goniometry. [ Time Frame: 36 wks ] [ Designated as safety issue: No ]
  • Acceptable dose as determined by total uGAG excretion using a forced dose titration regimen [ Time Frame: 36 weeks ] [ Designated as safety issue: No ]

Estimated Enrollment: 5
Study Start Date: October 2013
Estimated Study Completion Date: June 2015
Estimated Primary Completion Date: June 2015 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: UX003 Drug: UX003


Ages Eligible for Study:   5 Years to 30 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Confirmed diagnosis of MPS 7 based on leukocyte or fibroblast glucuronidase enzyme assay or genetic testing confirming diagnosis.
  • Elevated uGAG excretion at a minimum of 2-fold over normal.
  • Between 5 and 30 years of age, inclusive (approximately two subjects between the ages of 20-30 years).
  • 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.
  • Sexually active subjects must be willing to use an acceptable method of contraception while participating in the study.
  • Females of childbearing potential must have a negative pregnancy test at Screening and be willing to have additional pregnancy tests during the study. Females considered not of childbearing potential include those who have had tubal ligation at least one year prior to Screening, or who have had total hysterectomy.

Exclusion Criteria:

  • Has undergone a successful bone marrow or stem cell transplant or has 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.
  • Pregnant or breastfeeding at Screening or planning to become pregnant (self or partner) at any time during the study.
  • Use of any investigational product (drug or device or combination) 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, that it warrants immediate surgical intervention or other treatment or may not allow safe study participation.
  • 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.
  Contacts and Locations
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Please refer to this study by its identifier: NCT01856218

United Kingdom
Manchester Academic Health Science Centre
Manchester, United Kingdom
Sponsors and Collaborators
Ultragenyx Pharmaceutical Inc
Principal Investigator: Simon Jones, MD Univeristy of Manchester
  More Information

No publications provided

Responsible Party: Ultragenyx Pharmaceutical Inc Identifier: NCT01856218     History of Changes
Other Study ID Numbers: UX003-CL201
Study First Received: May 8, 2013
Last Updated: January 15, 2015
Health Authority: United Kingdom: Medicines and Healthcare Products Regulatory Agency

Keywords provided by Ultragenyx Pharmaceutical Inc:
Mucopolysaccharidosis type 7, MPS 7, Sly syndrome, enzyme replacement therapy, rare disease, lysosomal storage disease, metabolic disorder

Additional relevant MeSH terms:
Carbohydrate Metabolism, Inborn Errors
Connective Tissue Diseases
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Mucinoses processed this record on November 30, 2015