Usher Syndrome Research News

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February, 2024

Following a positive meeting with FDA, 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.

 Read more here.

December, 2023

Divestment of sepofarsen and ultevursen completed – Théa to continue development of sepofarsen and ultevursen for patients with LCA10 and Usher syndrome (USH2a-Exon13).

 Read more here.

Published July 2023

 “This is the first comprehensive publication of clinical and genetic data on Usher Syndrome (USH) in Ireland, which has implications for clinical care, quality of life, and cost-effective use of novel treatments as they become available in Ireland and globally. USH is a devastating dual sensory impairment with an estimated economic impact of €10.2 million/year in Ireland. The most common genotypes in this cohort were MYO7A and USH2A, together comprising 80.7% of resolved cases, 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.”

 Read more here. 

Published June 2023

Merel Stemerdink and her colleagues have developed a zebrafish model with a gene defect in ADGRV1 (the gene associated with USH2C). This is an monumental step forward for USH2C as this is the very first time an animal model for ADGRV1-associated retinal dysfunction has been created thus allowing research to be done on therapy development for ADGRV1-associated Retinitis Pigmentosa (RP).

Furthering USH2C research even more, Merel and her colleagues, as a part of her PhD-project at Radboudumc, have also developed an ADGRV1-minigene therapy and in the coming year, they will begin testing the therapeutic effectiveness of the ADGRV1-minigene therapy using this ADGRV1-zebrafish model.

 Read more here. 

Published May 2023

A new study in the Netherlands has challenged the assumptions that sleep disorders and fatigue, common in patients with Usher syndrome, is caused by their brain's increased effort to process information due to hearing and visual loss with the study revealing some interesting results:

“Compared to the control population, USH2a patients experienced a poorer quality of sleep, a higher incidence of sleep disorders, and higher levels of fatigue and daytime sleepiness. Intriguingly, the sleep disturbances and high levels of fatigue are not correlated to the level of visual impairment. These results are in accordance with the patients’ experiences that their sleep problems already existed before the onset of vision loss.”.

These findings indicate that sleep problems and fatigue may be an inherent characteristics of Usher syndrome itself, rather than being solely attributed to dual-sensory loss. However, while these findings are significant, further research is needed to support this study. If future studies do validate these findings, it could have implications for the development of new care pathways specifically targeting the sleep problems and fatigue experienced by individuals with Usher syndrome thus enhancing their well-being and daily life.

 Read more here. 

Published June 2022

Presented by David Corey, PhD, to the World Medical Innovation Forum 2022, the results of the lab’s work with collaborators in the creation of a “mini-PCDH15” gene. This mini-gene, which can fit into a standard single AAV vector, was used to deliver a functional mini-PCDH15 gene into the inner ears of new born mice that are deaf like Usher 1F patients. Results after 4 weeks showed these mice retained most of their hearing, while the hearing of untreated USH1F-mice degenerated. It’s hoped, “if gene therapy with mini-PCDH15 works in the demanding environment of the inner ear, it is likely to also work to prevent the progressive blindness”. Read more here. 

Published June 2022

Work presented by Maryna Ivanchenko and team at the David Corey’s Lab to the 2022 ARVO Annual Meeting, showed success of their dual-AAV delivering a functional copy of the gene PCDH15 to mice model of USH1F thus overcoming hurdles with the size of this gene, which is too large for a single AAV. Results showed that most hearing was restored in a mouse model of USH1F, and mediates expression and normal localization of PCDH15 in human photoreceptors in vitro. Read more here. 

Published 09 May 2022

Presented at ARVO 2022, Prof Martha Neuringer and her team at OHSU announced they have successfully created the first genetically edited non-human primate model of USH1B, the first ever of its kind. Named Gemma, she brings hope for potential USH1B therapies as animal models are needed to test potential therapies such as dual-AAV gene therapy, before they can proceed with clinical trials in humans. Read more here. 

Published May 2022

Results from this proof-of-concept study, using optogentic gene therapy targeting cone photoreceptors (instead of cells in the inner retina or the retinal ganglion cells), showed successful improvement in vision in a large animal model. The subretinal delivery and expression of the optogenetic molecule in cone photoreceptors was also deemed well tolerated and safe. These positive findings presented in this paper supports that further studies should be carried out to evaluate the safety and efficacy of cone photoreceptor-directed optogenetic therapy for people with RP. Such studies could be carried out in conjunction with image intensifiers (i.e., goggles) that deliver the appropriate light stimuli to the treated eye. Read the full paper here. 

Published: 07 December 2021

A recent paper reveals findings from a study on USH1 that may alter our current views that USH1 is a degenerative condition affecting the photoreceptors by suggesting that instead, photoreceptors may have originally developed abnormally and worsened over time as the eye matured. This discovery may potentially lead to a new approach in USH1 research focusing on therapies to provide early treatment to stabilise “OS biogenesis” before widespread death, instead of, as most current research, focusing on the replacement of lost photoreceptors. Read the full paper here.

Announced: 12 April 2022

ProQR has recently dosed its first patients in the UK in its phase 2 /3 Sirius trial for people with retinitis pigmentosa and Usher syndrome due to mutations in exon 13 of the USH2A gene. In this phase of the Sirius trial, the safety and efficacy of the investigational RNA therapy Ultevursen is being investigated, with ProQR hoping the drug will be successful in halting against further vision loss. If you wish to learn more about this trial, please visit ProQR's website here 

Published: 28 February 2022

Findings from a recent study confirms that ARSG variants cause the newly defined USH type 4 and supports the proposed extension of the phenotypic USH classification. It appears that this type may cause a late-onset of symptoms, as all of the subjects (from Ireland, Germany, and the Netherlands) in this study experienced a late-onset of hearing loss (SNHL) and retinitis pigmentosa (RP). Read the full the paper here.