CompletedPhase 1/2

Gene Therapy in Patients With Mucopolysaccharidosis Disease

Italy, Turkey (Türkiye)9 participantsStarted 2017-07-17

Plain-language 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.

Who can participate

Age range4 Years – 65 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

✓. Documented biochemical and molecular diagnosis of MPS VI. Testing for homozygous or compound heterozygous disease-causing mutations of the ARSB gene must have been performed by an accredited laboratory.
✓. Subjects must be of 4 years of age or older.
✓. Subjects should have received ERT for at least 12 months before enrolment and should continue to receive ERT until 7-14 days before IMP administration.
✓. Documented informed consent; willingness to adhere to protocol and to participate to 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 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 a respiratory impairment event that is life-threatening).
✕. Presence of tracheostomy or need of ventilatory assistance.
✕. Subjects with evidence of progressive myelomalacia that is considered severe enough to require neck surgery in the first six months after enrolment.
✕. Values of AST or ALT above the upper limit of normal range at baseline 2 (at -5days) evaluations.

What they're measuring

Safety and tolerability of the IMP administration

Timeframe: From GT up to 5 years post IMP administration at the following visits: days 1,2,3; weeks 2,3,6,7,8,9,10,11,12,13,14; months 4,9,12; years 1.5, 2, 2.5, 3, 3.5, 4, 4.5, 5.

Primary efficacy outcome - Urinary GAG levels

Timeframe: From GT up to 5 years post IMP administration at the following visits: days 1,2,3; months 4,9,12,15; years 1.5,1.75, 2, 2.5, 3, 4, 5.

Trial details

NCT IDNCT03173521

SponsorFondazione Telethon

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2021-07-30

View on ClinicalTrials.gov More Mucopolysaccharidosis Type VI trials