A long-term study of beta-glucuronidase enzyme replacement therapy for Sly disease

JRCT ID: jRCT2051190085

Registered date:19/12/2019

Basic Information

• Recruitment status: Not Recruiting
• Health condition(s) or Problem(s) studied: Mucopolysaccharidosis type VII
• Date of first enrollment: 06/03/2020
• Target sample size: 4
• Study type: Interventional
• Intervention(s): Investigational drug: Vestronidase alfa [Recombinant human beta-glucuronidase (rhGUS)], 4 mg/kg, IV, QOW

Outcome(s)

• Primary Outcome: Adverse event (safety outcome)

Secondary Outcome

longitudinal changes from baselin value in the preceding study in:
1) urinary glycosaminoglycans

Changes from baseline value in the preceding study in:
2) developmental age, deve Up to lopment quadrant
3) liver / spleen volume
4) cardiac function
5) 6-minute walk test, 3-minute ascending test
6) visual acuity test
7) respiratory function

Key inclusion & exclusion criteria

• Age minimum: Not applicable
• Age maximum: Not applicable
• Gender: Both

Include criteria

Patient must meet the following criteria:
1. Patients who have participated in the preceding study and can participate in this study without safety concerns as judged by the investigators
2. 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

For patients who have not participated in the preceding study must meet the following criteria:
1. Confirmed diagnosis of MPS VII based on:
1) Reduced activity of leukocyte beta-glucuronidase
2) Clinical symptoms of Lysosomal disease (hepatomegaly, joint contracture,
airway obstruction, pulmonary problems etc.)
2. 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
3. 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.
4. 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.

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