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

JRCT ID: jRCT2051190088

Registered date:23/12/2019

Basic Information

• Recruitment status: Not Recruiting
• Health condition(s) or Problem(s) studied: Mucopolysaccharidosis type 7
• Date of first enrollment: 17/01/2019
• Target sample size: 3
• Study type: Interventional
• Intervention(s): Drugs, Investigational

Outcome(s)

• Primary Outcome: Reduction from baseline in urinary glycosaminoglycans (dermatan sulfate, heparan sulfate, chondroitin sulfate) at treatment week 24.

Secondary Outcome

Changes 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

Key inclusion & exclusion criteria

• Age minimum: >= 4age old
• Age maximum: <= 40age old
• Gender: Both

Include criteria

1. 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 criteria

1. 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

• Primary Sponsor: Hamazaki Takashi
• Source(s) of Monetary Support: Amicus Therapeutics UK LTD
• Secondary ID(s): JMA-IIA00416