HGT-SAN-067

• Research type

  Research Study

• Full title

  An Open-Label Extension of Study HGT-SAN-055 Evaluating Long-Term Safety and Clinical Outcomes of Intrathecal Administration of rhHNS in Patients with Sanfilippo Syndrome Type A (MPS IIIA)

• IRAS ID

  55444

• Contact name

  Simon Jones

• Sponsor organisation

  Shire Human Genetic Therapies Incorporated

• Eudract number

  2010-021348-16

• Research summary

  Sanfilippo Syndrome A, also called MPS IIIA, is a rare, inherited genetic disorder in which the enzyme heparin N sulfatase (HNS) or sulphamidase is missing or not working properly. This enzyme is important in the breakdown of mucopolysaccharides (MPSs) or glycosaminoglycan(s) (GAGs), which are large complex sugars used in the building of body tissues. When sulphamidase is missing, or not working properly, it causes GAGs to build up in the small parts of your cells, called lysosomes. As time goes on, cells 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. 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, has developed the study drug as an enzyme replacement therapy (ERT) for patients with MPS IIIA and is trialling the drug in the study HGT-SAN-055, a phase I/II safety and dose-escalation trial of recombinant human heparan N sulfatase (rhHNS). This study, HGT-SAN-067, is an open-label, multicenter, extension of HGT SAN 055. It is designed to evaluate the long-term safety and clinical outcomes of intrathecal administration of 3 dose levels (10 mg and 45 mg once per month and 45 mg EOW) of rhHNS via an IDDD in patients with MPS IIIA who completed HGT-SAN-055 and elected to continue to receive rhHNS treatment. Patients will continue to receive the same dose and regimen as they received in HGT SAN 055. The Baseline Visit for this study will be the first day the patient received his/her dose of rhHNS in Study HGT-SAN-055.

• REC name

  North West - Greater Manchester Central Research Ethics Committee

• REC reference

  10/H1008/73

• Date of REC Opinion

  12 Nov 2010

• REC opinion

  Further Information Favourable Opinion