NIPH Clinical Trials Search

JAPANESE
国立保健医療科学院
JMACCT ID: JMA-IIA00416

Registered date:11/03/2019

A phase 2 open label study to assess the efficacy and safety of beta-glucuronidase enzyme replacement therapy in Japanese patients with mucopolysaccharidosis type VII, Sly disease

Basic Information

Recruitment status Completed
Health condition(s) or Problem(s) studiedMucopolysaccharidosis type7
Date of first enrollment17/01/2019
Target sample size3
Countries of recruitmentJapan
Study typeINTERVENTIONAL
Intervention(s)Intervention type:DRUG. Intervention1:ADMINISTRATION, Dose form:INJECTION, Route of administration:INTRAVENOUS DRIP, intended dose regimen:UX003 will be intravenously administered at dose of 4 mg/kg every other week. UX003 will be sterilely diluted in saline and transferred to infusion bag. Administration of undiluted UX003 is prohibited. The rate of infusion will be determined to administer 2.5% of diluted UX003 for the first one hour and rest of the drug for 3 hours.. Control intervention1:NOT APPLICABLE.

Outcome(s)

Primary OutcomeReduction from baseline in urinary glycosaminoglycans (dermatan sulfate, heparan sulfate, chondroitin sulfate) at treatment week 24.. Timepoint:After 24 weeks.
Secondary OutcomeChanges from baseline in: 1) developmental age, development quadrant 2) liver / spleen volume 3) cardiac function 4) 6-minute walk test, 3-minute ascending test 5) visual acuity test 6) respiratory function 7) decrease in urinary GAGs after 24 weeks. Timepoint: 8 weeks, 16 weeks, 24 weeks, 36 weeks , 52 weeks.

Key inclusion & exclusion criteria

Age minimum>=4 YEARS
Age maximum<=40 YEARS
GenderBOTH
Include criteria1. Confirmed diagnosis of MPS 7 based on: 1) Reduced activity of leukocyte beta-glucuronidase 2) Clinical symptoms of Lysosomal disease (hepatomegaly,joint contracture,airway obstruction, pulmonary problems etc.) 2. Aged 4 to 40 years 3. Willing and able to provide written informed consent,or in the case of subjects under the age of 18, 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 4. Sexually active subjects must have been willing to use acceptable highly effective methods of contraception while participating in the study and for 30 days following the last dose. 5. Females of childbearing potential must have had a negative pregnancy test at Screening and be willing to have had additional pregnancy tests during the study. 6. Naive to treatment with UX003
Exclude criteria1. Undergone a successful bone marrow or stem cell transplant or had any degree of detectable chimaerism with donor cells 2. Major surgery within 3 months prior to study entry or planned major surgery during the study that may not have allowed safe participation in the study 3. Presence or history of any hypersensitivity to rhGUS or its excipients that, in the judgment of the Investigator, placed the subject at increased risk for adverse effects 4. Pregnant or breastfeeding at Screening or planning to become pregnant (self or partner) at any time during the study 5. 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 6. Presence of a condition of such severity and acuity that, in the opinion of the Investigator, warranted immediate surgical intervention or other treatment or may not have allowed safe participation in the study 7. Concurrent disease or condition, or laboratory abnormality that, in the view of the Investigator, placed the subject at high risk of poor treatment compliance or of not completing the study, or would have interfered with study participation or introduced additional safety concerns

Related Information

Contact

public contact
Name Takashi Hamazaki
Address Department of Pediatrics,1-4-3,asahimachi,abeno-ku,Osaka city,Osaka,545-8585
Telephone +81-6-6645-3816
E-mail hammer@med.osaka-cu.ac.jp
Affiliation Osaka City University Graduate School of Medicine
scientific contact
Name Takashi Hamazaki
Address Department of Pediatrics,1-4-3,asahimachi,abeno-ku,Osaka city,Osaka,545-8585
Telephone +81-6-6645-3816
E-mail
Affiliation Osaka City University Graduate School of Medicine