Frequently Asked Questions

Frequently Asked Questions

The following answers have been provided by members of the NDF Scientific Medical Advisory Board and are based on the current medical understanding of Norrie Disease. This section will be updated regularly and information may change as research moves forwards.

If you have a question you would like answered by the NDF Scientific Medical Advisory Board please contact us.

If known in advance, can the damage to the eye at birth be prevented through surgery?

The answer regarding surgery is unfortunately not.  The retinal vessels start developing at about 16 weeks gestation; it is likely that normal retinal development goes awry with the missing Norrin protein at about this age or slightly older; in any case all children with Norrie have significant malformation of the retina at birth, so I don’t believe that surgery, even at birth, can alleviate the visual issues. June 2019

Can CRISPR gene therapy be used to treat Norrie Disease?

For adult use, the CRISPR-Cas9 gene editing technique does hold some cause for optimism - we can use it to edit out and reintroduce genes. The efficiency of the technique is low though with only about 10% of cells that we attempt to edit actually showing any signs of effect. When talking about embryos this is still in its infancy as a clinical tool. We do not know what ‘off target’ effects there might be i.e. where else in the genome it might cut bits out. Furthermore, the ethics around genome editing for embryos is a long way from being answered.  So answer in short is no, not at the moment. But some hope.             June 2019

Can the hearing loss and hearing issues caused by Norrie Disease be delayed or reversed through the current hearing loss drugs in clinical trial? E.g the regain trial, frequency 360.

Regain trial is looking at adults with presbyacusis i.e. age related hearing loss and they are looking at reversal or regeneration of hearing loss.