Overview

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 Mucopolysaccharidosis Type 7 (MPS 7)

Status:
Completed
Trial end date:
2016-07-01
Target enrollment:
0
Participant gender:
All
Summary
UX003-CL201 is an open-label Phase 1/2 study to assess the safety, efficacy, and dose of UX003 in MPS 7 patients via intravenous (IV) administration every other week (QOW) for 36 weeks with up to an additional 36 weeks from the optional continuation period. Up to 5 participants, 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. Participants who complete both the initial treatment and forced dose titration periods will continue treatment in a 36- week continuation period.
Phase:
Phase 1/Phase 2
Accepts Healthy Volunteers?
No
Details
Lead Sponsor:
Ultragenyx Pharmaceutical Inc
Criteria
Inclusion Criteria:

- Confirmed diagnosis of MPS 7 based on leukocyte or fibroblast glucuronidase enzyme
assay or genetic testing confirming diagnosis.

- Elevated urinary glycosaminoglycan (uGAG) excretion at a minimum of 2-fold over
normal.

- Between 5 and 30 years of age, inclusive (approximately 2 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.