HGT-SAN-055

• Research type

  Research Study

• Full title

  A Phase I/II Safety, Tolerability, Ascending Dose and Dose Frequency Study of Recombinant Human Heparan N-sulfatase(rhHNS) Intrathecal Administration via an Intrathecal Drug Delivery Device in Patients With Sanfilippo Syndrome Type A (MPS IIIA)

• IRAS ID

  38816

• Contact name

  Simon Jones

• Sponsor organisation

  Shire Human Genetic Therapies Incorporated

• Eudract number

  2009-015984-15

• Research summary

  Sanfilippo Syndrome Type A, also called MPS IIIA, is a rare, inherited genetic disorder in which an enzyme called heparan-N-sulfatase (HNS) or sulphamidase is missing or not working properly. This enzyme is important in the breakdown of mucopolysaccharides (MPSs) or glycosaminoglycan (s) (or GAGs), which are large complex sugars used in the building of tissues of the body. When sulphamidase is missing, or not working properly, it causes GAGs to build up in the body, in the small parts of your cells, called lysosomes. As time goes on, cells in the body become clogged with the sugar and are injured. As a result, patients with MPS IIIA develop problems affecting the body, especially the central nervous system (CNS: the brain and spinal cord). These patients typically do not develop normal abilities regarding language, learning, and many of the normal tasks that are a part of growing up. Or the patients may develop these abilities and then lose them as time goes on and the GAGs build up within their body. The study Sponsor, Shire HGT, is developing the study drug as an enzyme replacement therapy (ERT) for patients with MPS IIIA. This is the first in man study evaluating the drug in MPS IIIA patients. The study will look at patients aged 3 years and above. The purpose of this study is to understand: * how the body responds to the study drug, and if it changes the affect of the disease * if the study drug stops or evens out the disease progression in patients with MPS IIIA * the safety and usefulness of the device used to deliver the study drug, also known as an intrathecal drug delivery device (IDDD). It will be referred to as ??device? in this document. The device is approved for use in Europe.

• REC name

  North West - Greater Manchester Central Research Ethics Committee

• REC reference

  10/H1008/9

• Date of REC Opinion

  25 Mar 2010

• REC opinion

  Further Information Favourable Opinion