Extrait

Background and study aims Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare genetic disorder. There are four types (A to D). Sanfilippo syndrome subtype B, or mucopolysaccharidosis type IIIB (MPSIIIB), is caused by a genetic defect of the enzyme α-N-acetylglucosaminidase (NAGLU). This enzyme is involved in breaking down long chains of sugar molecules. In its absence, these molecules build up. This causes brain damage starting most often during the first 5 years of life. Affected children require specific care and death occurs at the average age of 15, although some patients are still alive after the age of 20. MPSIIIB could be treated by delivering the correct gene for the missing enzyme using a virus (gene therapy). The aim of this study is to test this gene therapy approach in patients with MPSIIIB. Who can participate? Patients age 18 months to 5 years with MPSIIIB What does the study involve? Participants receive gene therapy combined with immunosuppressant drugs (to suppress the strength of the body's immune system). The virus is injected into the brain at 6 injection sites in a single session. Clinical and x-ray examinations are carried out and blood and cerebrospinal fluid samples are taken before and after treatment, with daily follow-up during 1 week after the injections, then 14 and 21 days, 1, 3, 6 and 12 months after treatment. What are the possible benefits and risks of participating? Not provided at time of registration Where is the study run from? Hôpital Bicêtre (France) When is the study starting and how long is it expected to run for? September 2013 to November 2015 Who is funding the study? 1. French Patient Association (France) 2. Private donations (France) Who is the main contact? Prof. Marc Tardieu

Critère d'inclusion

• Mucopolysaccharidose - neurodegenerative disease

Liens

• ictrp
• isrctn