ฝัง
- เผยแพร่เมื่อ 20 ต.ค. 2024
- David Birch, PhD, Scientific Director at the Retina Foundation of the Southwest, discusses phase 2/3 Sirius and Celeste clinical trials of investigational RNA therapy, QR-421a, for people with USH2A-mediated retinitis pigmentosa and Usher syndrome.
Retinitis pigmentosa is a group of rare, inherited ophthalmological disorders that affect the retina. Retinitis pigmentosa may be caused by mutations in any of approximately 150 genes, including USH2A. Inheritance can be autosomal dominant, autosomal recessive, or X-linked. The disease is characterized by progressive vision loss and the first sign is usually night blindness. As the condition progresses, affected individuals often develop mid-peripheral scotoma, and eventually total loss of peripheral vision as well as progressive central vision loss. Unfortunately, some retinitis pigmentosa patients will experience total vision loss.
Usher syndrome is a genetic disorder characterized by sensorineural hearing loss or deafness and progressive vision loss due to retinitis pigmentosa. People with USH2A-mediated Usher syndrome are usually born with hearing loss and start to have progressive vision loss during adulthood.
As Dr. Birch explains, it was recently announced that the first patients in the Sirius and Celeste trials have been dosed. Both trials are phase 2/3, double-masked, randomized, sham controlled, 24-month, multiple dose studies to evaluate whether QR-421a is effective at stopping vision loss and whether it is safe and well-tolerated. Adults and children (age 12 and up) with vision loss due to mutations in exon 13 of the USH2A gene will be enrolled in one of the studies, depending on baseline vision. In both studies participants are randomly assigned to three parallel study arms. In the two treatment arms, participants receive intravitreal injections with QR-421a at different doses (180 μg loading dose and 60 μg maintenance doses, or 60 μg loading dose and 60 μg maintenance doses). In the third sham control arm the intravitreal injections are mimicked but no injection or study medication is given.
The Sirius study is planning to enroll 81 participants with advanced vision loss (baseline best corrected visual acuity (BCVA) of worse than 20/40). The primary endpoint in the study is mean change from baseline in BCVA at 18 months in the treated arms compared to the control arm.
The Celeste study is planned to enroll 120 participants with early to moderate vision loss (baseline BCVA of equal or better than 20/40). The primary endpoint in the study is mean change from baseline in static perimetry at 12 months in the treated arms compared to the control arm.
I am 41, diagnosed with retinitis pigmentosa when I was five, certainly wish I could do something
Hi, my son has a preliminary diagnosis of usher syndrome at 4 years old. I have climbed the world's tallest mountain, I have thrown out first pitch, I run multiple businesses, I will pay what it takes, I will talk to them, a solution is coming.
Dear sir I am from Bangladesh, sir I did pre lasik test to do lasik, mam saw the report and said I have RP, but I can do Femto lasik if I want, then I saw a good retina specialist doctor and he said I can do lasik, now Can LASIK be done with Sir RP? Patient is 22 years old, can see 6/9 with glasses
I am fifty with the same condition