Thank you for contacting me about support for people living with Usher’s Syndrome.
In 2021, the UK Rare Diseases Framework was published to set out a vision for improving outcomes for people with rare diseases. The Framework set out four priorities around delivering earlier diagnosis, increasing awareness among healthcare professionals, improving access to specialist treatment and providing co-ordinated care.
Following consultation with the rare diseases community, an action plan for England has been published to set out how the Framework will be put into practice.
I fully understand the desire of patient groups to expand access to new, innovative treatments for rare diseases. Through the Highly Specialised Technology (HST) and Standard Technology Appraisal (STA) pathways, the National Institute for Health and Care Excellence (NICE) evaluates new medicines for rare diseases.
In the last year, NICE has consulted on changes to the evaluation of HST which aim to simplify the criteria for new medicines for rare conditions to be approved through this pathway.
I will continue to monitor the impact of NICE’s processes on access to medicines for people with rare conditions.
I welcome the establishment of the APPG on Usher Syndrome as a way of increasing awareness among parliamentarians of this condition and the impact on those affected.
My understanding is that Usher Syndrome is the most common cause of combined deafness and blindness, and I support all efforts to increase research to identify effective treatment for this debilitating condition.
Thank you again for taking the time to contact me.