An observational study to assess cognition in Gaucher Disease.

• Research type

  Research Study

• Full title

  An observational study to assess cognition in lysosomal storage disorders, such as Gaucher Disease.

• IRAS ID

  124490

• Contact name

  Tim Cox

• Contact email

  tmc12@medschl.cam.ac.uk

• Sponsor organisation

  Cambridge University Hospital NHS Foundation Trust and The University of Cambridge

• Research summary

  We would like to investigate in more detail how genetic mutations such as glucocerebrosidase (GBA) in Gaucher Disease affect cognitive function and how this might arise, using;\n(i) Gaucher Patients\n(ii) Unaffected carriers of the GBA mutation.\nWe will follow the Gaucher patients and unaffected GBA carriers over time using clinical assessments and compare the rate of change in this groups. In addition we will examine, in those patients that agree to it, a blood sample for biomarkers that track disease course.

• REC name

  East of England - Cambridgeshire and Hertfordshire Research Ethics Committee

• REC reference

  13/EE/0171

• Date of REC Opinion

  18 Jul 2013

• REC opinion

  Further Information Favourable Opinion