Grounded in Science
A balance of research news and well-being for the Usher syndrome community.
In honor of World Mental Health Day (October 10), we are excited to launch our monthly USH science newsletter, balanced with some thoughts on well-being. We will deliver featured science news, the latest progress in USH research, and resources to support your well-being throughout this journey of understanding Usher syndrome. It can be overwhelming to stay on top of the latest research so we are here to break it down for you and bridge that gap.
When it comes to the abundance of research updates, take what serves you and leave the rest. In the meantime, we want to help you make space for your well-being. We will match each monthly science update with a resource to support your mental health and wellness.
Clinical Trial Spotlight
Safety and Efficacy of NPI-001 Tablets for RP Associated With Usher Syndrome (SLO-RP)
NPI-001 is a small molecule treatment developed to slow or halt disease progression in RP patients with functioning cones, regardless of their disease-causing genetic mutation. Nacuity’s proprietary GMP-grade formulation of N-acetyl cysteine amide (NACA) tablets target oxidative stress associated with blinding eye diseases, such as RP. NPI-001 boosts glutathione, the body’s most powerful endogenous antioxidant, to stop chemically aggressive oxygen molecules from damaging eye tissue.
In preclinical animal studies, NPI-001 preserved photoreceptor cells and functionality. A Phase 1 clinical trial of Nacuity’s GMP-grade NPI-001 solution in healthy volunteers was completed with no serious adverse events.
A randomized, placebo-controlled, double-masked, multicenter, Phase 1/2 clinical trial of Nacuity’s proprietary NPI-001 tablets, the SLO-RP Study, is enrolling patients with RP associated with Usher syndrome. Nacuity expects to report interim safety results from this study during the third quarter of 2022 and first efficacy results second quarter 2023.
ADDITIONAL RESOURCES:
For more, check out our Current USH Research page specific to USH subtype as well as other gene-independent therapeutic approaches.
In Case You Missed It: Science News Feature
Optogenetic gene therapy restores vision in 11 RP patients
June 3, 2021: Nanoscope Therapeutics Inc. announced that in their Phase 1/2a clinical study, a year following a single injection of Multi-Characteristic Opsin (MCO) into the eye, there was vision improvement in all patients with retinitis pigmentosa (RP). The MCO genes used in the study are delivered into the retina using AAV2 vectors. 3 patients received low dosage injections, and 8 received high dosage. All patients in this study had objective and subjective improvements in functional vision. There was also improvement in mobility tests. Most opsins react only to a limited color range. MCO react to ambient lighting so there is no need for an external light device.
What this means for Usher syndrome: This new therapy may be able to restore vision in patients with RP regardless of the type of mutation that causes it. Because vision loss in Usher syndrome is a type of RP, this new therapy may also be beneficial to Usher syndrome patients.
For more science news, check out our Science News page, organized by treatment approach and type of Usher syndrome.
On Well-Being: Why "Grounded In Science"?
Did you know that the path to our own improved well-being is also rooted in science? That's why we chose to call this newsletter "Grounded in Science" ...
USH Life Hack of the Month
(Send your USH life hacks to info@usher-syndrome.org.)
Conversing with another person in a dark and/or noisy restaurant can be challenging. Using a real-time Ai transcription app on your phone or iPad like otter.ai can help. Simply open the app, place it on the table between yourself and the person you're speaking to, and carry on. If you miss something in conversation, you can refer to the app.
