Understanding the medical features of Norrie disease

• Research type

  Research Study

• Full title

  Understanding the medical features of Norrie disease

• IRAS ID

  225292

• Contact name

  Maria Bitner-Glindzicz

• Contact email

  maria.bitner@ucl.ac.uk

• Sponsor organisation

  Great Ormond Street Hospital for Children NHS trust

• Duration of Study in the UK

  5 years, 6 months, 1 days

• Research summary

  Background
  Norrie disease causes blindness from birth and progressive hearing loss by adulthood. It only affects boys as it is an "X-linked disorder" and affects the NDP gene. Norrie disease is very rare, and affects approximately 30 people in the UK and 800 people worldwide. Little is known about Norrie disease, and about the other medical problems it can cause. A recent study by Smith et al of 56 (mostly American) patients found learning difficulties, seizures and vascular disease in up to 50% of patients.

  Aims and objectives
  1. To characterise the phenotype of Norrie disease and any disease or symptoms associated with it.
  2. To understand the natural history of the condition, and the pattern and timing of the onset of hearing loss
  3. To contribute to the understanding of Norrie disease, which may be useful for future therapeutic studies

  Methods
  We want to review the hospital records of the known affected children and adults with Norrie disease in the UK, and arrange to meet affected people in order to take detailed medical histories and a medical examination to look for any other features or associated medical problems. We will also review the results of existing blood tests, hearing tests and other investigations done to build up a detailed picture of their disease nature and course.

  Potential impact
  This research will help us to understand more about Norrie, a severe condition which has not been extensively studied before. Our research will contribute to medical literature and may provide vital information about the condition, and its natural history, to future researchers including on therapeutic trials.

• REC name

  London - Queen Square Research Ethics Committee

• REC reference

  17/LO/0841

• Date of REC Opinion

  13 Jun 2017

• REC opinion

  Further Information Favourable Opinion