Research Resources – The Norrie Disease Foundation

Resource List

Launch of the GOSICH Norrie disease natural history study

Spectrum of Mutations in NDP Resulting in Ocular Disease; a Systematic Review

Research Paper: The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention

Article: Impact of sight and hearing loss in patients with Norrie Disease

A targeted Norrie Disease Literature Review

Launch of the GOSICH Norrie disease natural history study

We are very excited to share the news that Great Ormond Street Institute of Child Health (GOSICH) are ready to start the Norrie disease natural history study. This study is supporting the hearing loss research as we progress towards finding a treatment. You can take part by emailing j.arwyn-jones@ucl.ac.uk

The study will not only be looking to collect data from people with Norrie disease, but also from female carriers. We hope to gather information from you about your general health, and specific clinical investigations you may have had that are of particular interest to us (including eye tests and hearing tests).

Most of the data we will collect is going to be via questionnaires about your health experiences, some of which can be filled in by yourself (on paper or online), and some of which will be filled in together virtually with Dr James Arwyn - Jones, ENT SpR (OOPR), Lewis Spitz Surgeon Scientist PhD Fellow, Great Ormond Street Institute of Child Health.

Data related to clinical tests like hearing tests may be available from you directly, or may be obtained via your GP or regular clinicians. As well as all of this “retrospective” data collection (i.e. using data that already exists), we are looking to potentially set up some “prospective” data collection too, where we gather new data with potential additional tests where necessary and possible.

We understand that everyone will have an individual experience and different set of available data. To ensure you understand the details of our study and what we need from you, as well as to go through the consenting process we have created a set of information sheets (see below). Please note that there are different sheets for adult and child participants, and other sheets for parents/guardians of child participants. Please download the sheet(s) relevant to you and go through them at your own pace. Part of the consenting part of the online survey will include a step for confirmation that you have been through the information sheet and have no queries or questions.

To get started with the study please email j.arwyn-jones@ucl.ac.uk

6-9 year old child participation information sheet

10-15 year old child participation information sheet

16-18 year old child participation information sheet

Adult participation information sheet

Parent/guardian information sheet

Spectrum of Mutations in NDP Resulting in Ocular Disease; a Systematic Review

The NDF are delighted to share the newly published Norrie disease research paper Spectrum of Mutations in NDP Resulting in Ocular Disease; a Systematic Review Spectrum of Mutations in NDP Resulting in Ocular Disease; a Systematic Review completed at UCL Great Ormond Street Institute of Child Health, National Institute for Health and Care Research, University College London, Great Ormond Street Hospital Biomedical Research, Moorfields Eye Hospital, London.

This paper is another ground breaking milestone in the journey of understanding Norrie disease. We are very grateful to James Wawrzynski, Aara Patel, Abdul Badran, Isaac Dowell, Robert Henderson and Jane C. Sowden for their hard work, dedication and commitment to the NDF for producing this paper.

Information Video

Welcoming Oliver Coombe-Tennant to the lab! We are delighted that NDF funded student Oliver has started in post. Oliver joins the team at University College London Great Ormond Street Institute of Child Health to continue the pioneering research into treating the hearing loss and has produced an informative short video which outlines what the condition is and the approach to treating the hearing loss. We are very grateful to NDF Ambassador and Trustee, Anthony Ryers whose fundraising funded Ollie's post!

NDF Educational Settings Leaflet

The NDF Educational Settings Leaflet (ppt 1558kb) aims to provide general information about Norrie Disease (ND), its management and how to support the education of children and young people in schools and educational settings.

Download our Educational Settings Leaflet

Research Paper: The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention

We are delighted to be able to share our first research paper into the Norrie disease hearing loss 2017-2020. We are very grateful to the authors. The paper is dedicated to Professor Maria Bitner-Glindzicz who was the driving force behind the creation of the NDF and the start of pioneering research into treating the hearing loss.

https://insight.jci.org/articles/view/148586

@greatormondst @jclinicalinvest

The following resources have been very kindly produced for the NDF by Costello Medical’s Pro Bono services in memory of Professor Maria Bitner-Glindzicz who sadly died in 2018. Maria worked so hard for the Norrie Disease community and was the driving force behind the pioneering research into hearing loss.

Article. The impact of sight and hearing loss in patients with Norrie Disease: advantages of Dual Sensory clinics in patient care

An article reviewing the Impact of sight and hearing loss in patients with Norrie disease. This work has been published as an Open Access paper in BMJ Open and can be accessed here (pdf). It discusses the advantages of Dual Sensory clinics in patient care and was undertaken with clinicians caring for Norrie patients at Great Ormond Street Hospital for Children.

Dual Sensory Clinics - Plain Language Summary

A summary of the above scientific article has been developed in plain language, you can read or listen to this using the links below:

Read our Plain Language Summary

Dual Sensory Clinics - Manuscript Animation

This short animation highlights the key messages from the manuscript, particularly the positive impact of Dual Sensory clinics on patient care.

Dual Sensory Clinics - A Word from the NDF

Theresa Peacock reflects on the importance of this manuscript for the Norrie Disease community and explains what impact she hopes it will have.

A targeted Norrie Disease Literature Review (compendium) and accompanying report

The aim of this Targeted Literature Review was to produce a consolidated list and summary of previously published research related to Norrie Disease and its characteristics and epidemiology, management and patient/carer experience.

We hope this Literature Review (xls 164kb) will be a valuable resource for healthcare professionals and members of the Norrie Disease community to identify articles relevant to specific topics of interest within the field.

An accompanying Literature Review Report, (word 215kb) summarises how the literature review was conducted.