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While there is currently no cure for Usher syndrome, there are a number of research studies looking into the genetic causes of Usher, as well as potential new treatments.
Clinical trials are being carried out linked to Usher syndrome, and scientists are regularly developing new studies.
The focus of current clinical trials linked to Usher is eyesight, and in particular the retina.
A number of research centres around the world are developing retinal implants. This is the sight equivalent of cochlear implants for the ear.
The most common technique being trialled places a small video camera behind a pair of glasses.
The camera sends visual signals to a device implanted on the retina at the back of the eye. This device electronically signals the remaining cells in the retina, which are passed down the optic nerve for processing in the brain.
The first retinal implant is now available to buy in the USA, but researchers are continuing to work on and trial improved, more effective devices.
One of the great advantages of retinal implants is that they could benefit people with advanced RP, as it bypasses the photoreceptors affected.
This is where a gene is inserted into a patient’s retinal cells.
The aim is to inject a correctly working gene into the affected area of the retina. The cells should then begin to work properly and prevent further damage to the retina.
There have been two clinical trials to treat Leber congenital amaurosis, a type of inherited degeneration of the retina very similar to RP, but which begins much earlier in life.
Results have been encouraging, and show improvements to vision over periods of up to three years in some, but not all, patients.
Retinal stem cell therapy replaces damaged or lost cells in the retina.
The intention is to ‘persuade’ the stem cells, by growing them in special conditions in a laboratory, to turn into the rod and cone photoreceptor cells that are affected by RP. These new cells will then be transplanted into the retina.
Although human clinical trials have yet to begin for patients with RP, they have begun for those with another eye condition called Stargardt Disease.
There is some way to go before clinical trials take place to replace the more complex rod and cone cells that are central to slowing or reversing RP.
Growth factors are naturally occurring chemicals that support cells to grow and repair themselves.
One of the growth factors researchers are focusing on is called CNTF (Ciliary Neurotrophic Factor). The CNTF protects nerve cells, and is delivered to the retina via a tiny implanted device that releases the CNTF.
Early research has shown that CNTF can slow the deterioration of the retina in animals with RP. Human trials are now underway with patients who have both early and late stage RP.
We are often asked about taking part in clinical trials. We recommend raising the issue with your specialist. There are also a number of registers, such as the UK Clinical Trials Gateway, where you can find information about trials that may be relevant to you.
Let us know if you would like us to contact you if we are informed about trials involving treatments for Usher syndrome.