Debate on innovation in the field of rare retinal disease
A debate has been scheduled in Westminster Hall for 3pm on 23 January on innovation in the field of rare retinal disease. The subject for the debate has been chosen by the Backbench Business Committee, and the debate will be opened by Jim Shannon MP.
The retina is a light-sensitive area of tissue found at the back of the eyeball. Several rare inherited (genetic) conditions can affect the retina, causing retinal cells to deteriorate and die, resulting in progressive sight loss. The charity Retina UK estimate that around 25,000 people in the UK are affected by inherited retinal diseases.
A rare disease is a condition that affects fewer than 1 in 2,000 people. It is estimated that around 3.5 million people in the UK are living with one of over 7,000 rare diseases.
The charity Retina UK has published information about individual rare retinal diseases. The most common of these is a group of conditions called retinitis pigmentosa (RP). People with RP experience a gradual, progressive loss of vision as light-sensitive cells in the retina (known as rod and cone cells) die. RP is estimated to affect between 1 in 3,000 and 1 in 5,000 people.
Current treatments for rare retinal diseasesThere is no cure for most inherited retinal diseases. The Royal National Institute of Blind People (RNIB) has published information about assistive aids and technology that can be used to support people with sight loss. Retina UK provide a range of resources to provide patients affected by retinal diseases with information and support.
Some patients with a rare retinal disease called Leber Congenital Amaurosis (LCA) can now access a new gene therapy treatment, voretigene neparvovec, known as Luxturna. This treatment was approved by the National Institute for Health and Care Excellence in 2019, to treat inherited retinal dystrophies that are caused by a specific type of gene mutation, known as biallelic RPE65 mutation.
New treatments for rare retinal diseasesPotential new treatments for retinal diseases include new gene therapies and artificial vision technologies.
Gene therapies are medicines that introduce new genetic material into body cells to treat disease. In August 2024, the journal Retina Today reported that there were currently over 30 gene therapies in development for the treatment of a range of inherited retinal diseases. These new treatments are currently being tested in clinical trials.
Artificial vision technologies involve implanting microchips into the eye to support or replace the functions of retinal cells. These implants are known as retinal prostheses.
The role of NICENICE make recommendations for the NHS on the use of new treatments, based on an assessment of their clinical and cost effectiveness. These recommendations about new treatments apply in England, and are also typically adopted in Wales and endorsed in Northern Ireland. In Scotland, the Scottish Medicines Consortium make recommendations about medicines to NHS Health Boards.
NICE published its strategic principles for rare diseases in May 2024, outlining its approach to developing guidance relating to rare diseases.
For very rare diseases, new treatments are evaluated under the NICE Highly Specialised Technologies (HST) programme. Under this programme, a specialist committee considers evidence to assess the clinical and cost-effectiveness of new treatments. On 19 December 2024, NICE launched a public consultation ahead of updating the HST eligibility criteria (called the ‘routing criteria’) in 2025. The consultation is open until 30 January 2025.
Government policy on rare diseasesThe UK Rare Diseases Framework, published in January 2021, set out priorities for England, Scotland, Wales and Northern Ireland to:
- speed up diagnosis
- raise awareness of rare diseases among healthcare professionals
- provide better coordination of care
- improve access to specialist care, treatment and drugs.
Since the framework was published, all four parts of the UK have published action plans, outlining their commitments to deliver on the framework.
In December 2024, the Parliamentary Under-Secretary (Department of Health and Social Care), Andrew Gwynne MP, said that the government was committed to delivering the framework, and to publishing a new action plan for England in 2025.