NCT03173521

Gene Therapy in Patients With Mucopolysaccharidosis Disease

A Phase I/II Open Label, Dose Escalation, Safety Study in Subjects With Mucopolysaccharidosis Type VI (MPS VI) Using Adeno-Associated Viral Vector 8 to Deliver the Human ARSB Gene to Liver

• Status: Completed
• Phase: Phase 1 / Phase 2
• Study type: Interventional
• Enrollment: 9 (actual)
• Sponsor: Fondazione Telethon · Academic / Other
• Sex: All
• Age: 4 Years – 65 Years
• Healthy volunteers: Not accepted

Summary

This study investigated the safety and efficacy of gene therapy approaches for Mucopolysaccharidosis type VI disease caused by the deficiency of arylsulfatase B (ARSB) enzyme. The aim of the study is to evaluate the safety and efficacy of the treatment.

Detailed description

Mucopolysaccharidosis type VI disease is involved in Lysosomal Storage Disorder. The MPS VI disease is characterized by growth retardation, corneal clouding, cardiac valve disease, organomegaly, skeletal dysplasia, without central nervous system involvement.

Conditions

• Mucopolysaccharidosis Type VI

Interventions

Type	Name	Description
BIOLOGICAL	AAV2/8.TBG.hARSB	Adeno-associated viral vector serotype 8 with liver-specific thyroxinebinding globulin (TBG) promoter driving the expression of the human ARSB gene. Four dose levels are available: * Starting dose is 6x1011 gc of vector per kg of body weight; * High dose is 2x1012 gc of vector per kg of body weight and will be administered after at least two subjects at the starting dose have experienced no DLT; * Very high dose is 6x1012 vector per kg of body weight and will be administered after three subjects at the high dose have experienced no DLT; * Low dose is 2x1011 gc of vector per kg of body weight. Intermediate doses are also possible. The administration of the IMP will be performed into a peripheral vein. The IMP final volume to be injected is calculated based on the patient's weight (determined on the day of hospital admission), as 3 mL/kg.

Timeline

• Start date: 2017-07-17
• Primary completion: 2021-07-30
• Completion: 2024-07-16
• First posted: 2017-06-02
• Last updated: 2024-11-22

Locations

2 sites across 2 countries: Italy, Turkey (Türkiye)