TOGETHER WE CAN SUPPORT, ADVOCATE, & BRING HOPE FOR A CURE
Your donation really helps to make a difference to the lives of individuals and families living with Usher syndrome. By donating today, you enable us to provide vital support and information, advocate for the community, and raise awareness about this condition. Each donation also brings us closer to finding a cure and to a brighter future.
NEWS FROM USHER SYNDROME IRELAND:
USH CONNECT 2024
On September 21st, Usher Syndrome Ireland was delighted to welcome families, teens, parents, and supporters of the USH community to the second annual USH Connect in Dublin. Click the link to find out more.
USHER SYNDROME IRELAND FUNDS ITS FIRST USH RESEARCH
In the pilot study titled, “Investigating the exosome content as a novel marker for Usher syndrome 1b”, Dr. Irene Vázquez Domínguez at RadboudUMC, Netherlands, will investigate if tears can be used as a source of information to help improve the current knowledge of the disease and also, if they can be used to better predict the development of Usher Syndrome type 1b. This is a one year study being co-financed by Usher Syndrome Ireland in a collaboration with lead financer, Stichting Ushersyndroom.
USHER SYNDROME IRELAND APPEARS ON IRELAND AM
Our board member Deirdre, and Prof Keegan, recently appeared on national TV on Ireland:AM, to raise awareness of Usher syndrome and Usher Syndrome Ireland. You can watch back by searching episode number:128 on Virgin Media Player.
Playback no longer available on Virgin Media Player - video to be uploaded to our YouTube channel soon.
USH IN RESEARCH NEWS:
JCYTE RECEIVES APPROVAL TO BEGIN PHASE 3 CLINICAL TRIAL, JCELL FOR RETINITIS PIGMENTOSA
Marking a pivotal moment, jCyte announces plans to begin Phase 3 of jCell therapy for retinitis pigmentosa in the second-half of 2024 offering hope to retinitis pigmentosa (RP) patients including those with Usher syndrome.
USHER SYNDROME ON THE ISLAND OF IRELAND: A GENOTYPE-PHENOTYPE REVIEW
The first comprehensive publication of clinical and genetic data on Usher syndrome on the island of Ireland has been published with implications for clinical care, quality of life, and cost-effective use of novel treatments for those living with the condition as they become available in Ireland and globally. The publication also details that the estimated economic impact of USH is €10.2 million per year in Ireland.
It was noted that the most common genotypes in this group were found to be MYO7A and USH2A, together comprising 80.7% of cases in Ireland, consistent with international findings. The clinical majority were USH2 (73.8%) and USH1 (24.1%) with infrequent USH3 (1.4%) and USH4 (0.7%) cases.
NEW RESEARCH AIMS TO EXPAND A METHOD OF GENE THERAPY WITH HOPES IT WILL RESTORE VISION LOSS IN USH2A
A University of Houston researcher is expanding a method of gene therapy with the hopes it will restore vision loss in Usher Syndrome Type 2A (USH2A), a rare genetic disease.
The National Eye Institute has awarded Muna Naash, John S. Dunn Endowed Professor of biomedical engineering, $1.6 million to support her work.
NACUITY PHARMACEUTICALS ACHIEVES TARGET ENROLLMENT FOR PHASE 1/2 CLINICAL TRIAL OF NPI-001 FOR THE TREATMENT OF RETINITIS PIGMENTOSA ASSOCIATED WITH USHER SYNDROME
Nacuity has announced it has achieved its target enrolment of 48 patients diagnosed with RP associated with USH for its Phase 1/2 clinical trial of Nacuity’s proprietary NPI-001 tablets, the SLO-RP Study.
This therapy focuses on the treatment of ocular oxidative stress in the retina which they believe may potentially slow down the degeneration of the photoreceptors cells as experienced by patients with RP associated with Usher syndrome. Nacuity expects to share the results from an interim analysis including efficacy data by year end 2023.
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