Chart Review of Deceased Patients with Mucopolysaccharidosis Type IIIB

• Research type

  Research Study

• Full title

  A Retrospective Chart Review of Deceased Patients with Mucopolysaccharidosis Type IIIB

• IRAS ID

  131909

• Contact name

  Suresh Vijay

• Contact email

  Suresh.vijay@bch.nhs.uk

• Sponsor organisation

  Synageva BioPharma Corp.

• Clinicaltrials.gov Identifier

  2013-001464-39 , EudraCT number

• Duration of Study in the UK

  1 years, 4 months, 0 days

• Research summary

  The mucopolysaccharidoses (MPS) are a group of disorders caused by deficiency of enzymes.

  In this study a particular enzyme deficiency called mucopolysaccharidosis Type IIIB (MPS IIIB), is being studied.

  MPS IIIB is a very rare disease and prevents babies developing normally, they are unable to do the things normal babies can do. Babies and young children with MPS IIIB will develop normally during the first 2 years of life, but after this time their development slows down. By 3 to 4 years they have stopped developing altogether and thereafter they health starts to decline.

  Affected children usually become totally dependent on care early in their teenage years and only survive until their late twenties or early thirties.
  There is currently no treatment for MPS IIIB. There are only medications to control some of the problems from which children and young people suffer such as seizures and behavioural problems, as well as sleeping aid medication. The Sponsor of this study is trying to find a treatment for MPS IIIB. As is the case for most rare diseases, the disease is not fully understood and doctors would like to find out more information in order to develop an effective treatment.

  This study is designed to gather information on the disease, how it manifests itself in sufferers and how the disease progresses.

  For practical reasons, this study will be carried out looking at the medical records of children and young people who have died from MPS IIIB. Medical records will be carefully examined to gather information on how long patients survived, what kinds of treatments they received and how the disease progressed.
  The patient data collected in this study will be anonymised i.e. without patient initials, full dates of birth or death.

• REC name

  West Midlands - Edgbaston Research Ethics Committee

• REC reference

  14/WM/1189

• Date of REC Opinion

  24 Oct 2014

• REC opinion

  Favourable Opinion