Disease focus
X-Linked Retinitis Pigmentosa
About X-linked retinitis pigmentosa (XLRP)
Retinitis pigmentosa (RP) describes a group of rare genetic eye diseases that damage light-sensitive cells in the retina, leading to loss of sight over time. In about 10% of RP cases, the non-working gene is passed down from the mother to her children resulting in a form of RP known as XLRP. XLRP is associated with mutations in genes located on the X chromosome, which means the condition predominantly affects boys and young men. However, some females may be affected as well.
XLRP causes gradual vision loss. The disease begins with night blindness and is followed by a slow narrowing of the peripheral field of vision. In general, the decline in vision (also referred to as “visual acuity”) results in a person becoming legally blind in their 40s.
Further information about how RP is inherited and the impact on the vision of male and female children can be found here.
In numbers:
- 1:40,000
- Young males affected
- <10 years old
- Early onset night blindness
- 45 years old
- Median age patients become legally blind
- 50%
- Genetic diagnosis rate for RP
Treatment
AAV Gene Therapy
Gene therapy for ophthalmic disorders
There are currently no effective treatments available for XLRP, but we have developed a new technique of gene therapy which we believe may help to slow or even stop the degeneration.
Beacon Therapeutics is currently developing laru-zova for the treatment of XLRP caused by mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene. laru-zova is an AAV vector-based gene therapy delivered subretinally, designed to provide full-length functioning RPGR protein to target the genetic root cause of XLRP.
As part of developing laru-zova for the treatment of XLRP, Beacon therapeutics is sponsoring clinical trials to assess the safety and efficacy of laru-zova.
Clinical trials are a crucial part of drug development. Clinical trials look at new ways to treat disease to determine if the treatment is safe and effective. The safety of our clinical trial participants is a top priority to all of us at Beacon Therapeutics.
