Gene Therapy in Patients With Mucopolysaccharidosis Disease

  • End date
    Jun 1, 2022
  • participants needed
  • sponsor
    Fondazione Telethon
Updated on 25 January 2021


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.


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.

Condition Maroteaux-Lamy Syndrome
Treatment AAV2/8.TBG.hARSB
Clinical Study IdentifierNCT03173521
SponsorFondazione Telethon
Last Modified on25 January 2021


Yes No Not Sure

Inclusion Criteria

Subjects must have a documented biochemical and molecular diagnosis of MPS VI
Subjects must be 4 years old or older
Subjects should have received Enzyme Replacement Therapy (ERT) for at least 12 months before enrolment, and should continue to receive treatment until 7-14 days before IMP administration
Documented informed consent; willingness to adhere to protocol and required long-term follow-up as evidenced by written informed consent

Exclusion Criteria

Subjects unable or unwilling to meet requirements of the study
Participation in a clinical study with an investigational drug in the 6 months prior to enrolment in this trial
Subjects who are unable to perform the 6MWT
History of severe anaphylactoid reaction to Naglazyme in subjects receiving ERT that could affect the safety (severe reaction is meant to be an event with respiratory impairment that is life-threatening)
Presence of tracheostomy or need of ventilatory assistance
Subjects with evidence of progressive severe myelomalacia that is predicted to require neck surgery in the first six months after enrolment
Serum AST or ALT above the upper limit of normal range at the baseline evaluations (Baseline 2, -5 days)
Co-existence of chronic diseases or clinically relevant abnormal baseline laboratory values; infections with hepatitis B, C, or HIV (Baseline 1)
Systemic corticosteroid therapy or other immunosuppressive/immunomodulating drugs within 2 weeks prior to IMP administration
Female individuals of childbearing age who are pregnant or nursing or unwilling to use effective contraception for at least one year post- IMP administration
Fertile male individuals who are unwilling to use male barrier contraceptives such as condom
Any other condition that would not allow the subject to complete follow-up examinations during the course of the study and that, in the opinion of the Investigator, would make the subject unsuitable for the study
Detectable serum neutralizing antibodies (NAB) against AAV8 vector (Baseline 1)
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