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Ganglion cells in the eye generate noise as the light-sensitive photoreceptors die in diseases such as retinitis pigmentosa (RP). Now, neurobiologists have found a drug and gene therapy that can tamp down the noise, improving sight in mice with RP. These therapies could potentially extend the period of useful vision in those with degenerative eye diseases, including, perhaps, age-related macular degeneration.

What this means for Usher syndrome: This type of therapy may also extend the period of useful vision in Usher syndrome.

ProQR Therapeutics N.V., a company dedicated to changing lives through the creation of transformative RNA medicines for the treatment of severe genetic rare diseases, today announced the first patient treated in the Phase 1/2 STELLAR clinical trial for QR-421a in patients with Usher syndrome type 2 or non-syndromic retinitis pigmentosa (RP). Interim data from the trial are expected to be announced by mid-2019. According to David G. Birch, Ph.D., Principal Investigator of STELLAR and Scientific Director of the Retina Foundation of the Southwest in Dallas, Texas, “The STELLAR study is one of the first studies of its kind exploring the impact of ProQR’s RNA therapies on patients with Usher syndrome type 2 due to an Exon 13 mutation. The STELLAR trial will explore whether QR-421a (ProQR’s RNA therapy) can slow disease progression or even reverse it.”

What this means for Usher syndrome: There may be a potential drug available to reverse blindness caused by Usher syndrome.

Researchers at the University of Science and Technology of China injected tiny nanoparticles into mouse eyes that bind the retina into the eyeballs, hence giving them what the team calls ‘super vision.’ The injected nanoparticles bind to photoreceptors and shift the wavelength of light. After the injection, the mice could see normally invisible near-infrared light effectively extending ‘mammalian vision’. Scientists predict that these kinds of nanoparticles could help repair vision in humans who experience loss of retinal function or red color blindness. Additionally, this method is less invasive than other conventional vision repair methods.

What this means for Usher syndrome: This method might be used to increase light sensitivity as vision is lost.

ReNeuron Group, a UK-based global leader in the development of cell-based therapeutics, announced positive preliminary results in the company’s ongoing Phase 1/2 clinical trial of its human retinal progenitor cells candidate therapy for the blindness-causing disease, retinitis pigmentosa (RP). All three subjects in the first group of the Phase 2 part of the trial demonstrated a significant improvement in vision at the follow-up compared to their pre-treatment baseline and compared with their untreated control eye.

What this means for Usher syndrome: A similar cell-based therapy tailored to Usher syndrome may help restore vision.

The Sanford Health Lorraine Cross Award worth $1 million was established to award game-changers in medicine. The award is not to have people to live forever, but to “live life without suffering.” The winners of the award are Dr. Jean Bennett and Dr. Katherine High of the University of Pennsylvania, pioneers of gene therapy research. The award is in recognition of the improvements in gene therapy that led to an FDA-approved treatment for Leber’s congenital amaurosis.

What this means for Usher syndrome: This award not only reflects the importance of gene therapy for the treatment of genetic disorders but could accelerate research in Usher syndrome through gene therapy.

A team of scientists from Sechenov First Moscow State Medical University (MSMU), together with colleagues from leading scientific centers in India and Moscow, described several genetic mutations causing Usher syndrome.

What this means for Usher syndrome: These previously unstudied genetic mutations will allow us to identify new targets for specific therapies.

The United States Patent & Trademark Office (USPTO) has approved the usage of mesencephalic-astrocyte-derived neurotrophic factor (MANF) or cerebral dopamine neurotropic factor (CDNF) as a treatment for various retinal disorders including retinitis pigmentosa, macular degeneration, or glaucoma. Both factors can be administered as an eye drop or by intravitreal injection. MANF is believed to have potential because it is a naturally-occurring protein produced by the body to reduce or prevent cell death in response to injury or disease through unfolded protein response.

What this means for Usher syndrome: Since MANF reduces or prevents cell death, in the case of Usher syndrome, it could prevent photoreceptor cells from dying, and thus preserve vision.

A new purple protein, bacteriorhodopsin, has made its way from a tiny laboratory in Farmington, Connecticut, all the way up to the International Space Station. Since bacteriorhodopsin is light-sensitive, researchers hope to implant it into human eyes. The thought is that the protein could be used to replace cells that die due to diseases like retinitis pigmentosa and age-related macular degeneration. To simulate the cells, the laboratory in Farmington needs to build what it is called “organic implants” by layering the bacteriorhodopsin onto a film and dipping it over and over into a series of solutions. These solutions need to have a uniform distribution that can be adversely affected by gravity. To test this, LambdaVision has secured a spot for their experiment aboard the International Space Station, using funding from the ISS National Lab and Boeing.

What this means for Usher syndrome: These “organic implants”, composed of bacteriorhodopsin, could be capable of replacing dying photoreceptors in the retina.

Researchers revealed that culturing human induced pluripotent stem cells with different isoforms of the extracellular component laminin led to the creation of cells specific to different parts of the eye, including retinal, corneal, and neural crest cells. They showed that the different laminin variants affected the cells' motility, density, and interactions, resulting in their differentiation into specific ocular cell lineages. Cells cultured in this way could be used to treat various ocular diseases.

What this means for Usher syndrome: There is the possibility of replacing the photoreceptor cells that are dying in the retina with pluripotent cells that have been grown and induced into healthy photoreceptor cells.

Scientists at the Francis Crick Institute have discovered a set of simple rules that can determine the precision of CRISPR/Cas9 genome editing in human cells. These rules could help to improve the efficiency and safety of genome editing in both the lab and the clinic. By examining the effect of CRISPR genome editing at 1491 target sites across 450 genes in human cells, the team have discovered that the outcomes can be predicted based on simple rules. In this study, researchers have found that the outcome of a particular gene edit depends on the fourth letter from the end of the RNA guide, synthetic molecules made up of about 20 genetic letters (A, T, C, G). “The team discovered that if this letter is an A or a T, there will be a very precise genetic insertion; a C will lead to a relatively precise deletion and a G will lead to many imprecise deletions. Thus, simply avoiding sites containing a G makes genome editing much more predictable.”

What this means for Usher syndrome: Scientists will theoretically be able to repair the mutation present in an Usher gene by selecting the correct genetic letter from the end of the RNA guide.

The light scalpel has the potential of preventing the “ripple effect” that occurs following a trigger that leads to glaucoma or macular degeneration. By utilizing the femtosecond laser, small holes appear in the cells of the eye’s retina, making it possible to effectively inject drugs or genes in specific areas of the eye. The key feature of this technology is extreme precision because through the usage of gold nanoparticles, the light scalpel makes it possible to precisely locate the family of cells where the doctor will have to intervene.

What this means for Usher syndrome: In CRISPR/Cas9 editing or drug delivery, the utilization of the femtosecond laser will improve the delivery of the specific compound to the affected area with minimum side effects.

In August, it will be a year since the first commercial IRIS®II retinal chip implantation in Europe took place; it has allowed a blind patient to perceive light stimuli and use it to locate objects, meaning that she can be more independent. This work has made it possible to integrate artificial vision technology, which includes an electrical retinal stimulator with over 150 electrodes, glasses with a bio-inspired mini-camera and a pocket processor into this patient’s day-to-day life. For the patient, blind from a result of retinitis pigmentosa, the retinal chip is another way of supporting her in her daily life, together with her guide dog and the use of a cane.

What this means for Usher syndrome: There are possible technologies available to help the blind live and navigate independently.

Since 1995, University of California, Irvine stem cell researcher Magdalene J. Seiler, PhD has pursued promising research into the development and usage of retinal sheet transplantation. The treatment is based on transplanting sheets of stem cell-derived retina, called retina organoids to the back of the eye with hopes of re-establishing the neural circuity within the eye. Recently, Seiler has received a $4.8 million grant from the California Institute of Regenerative Medicine (CIRM) to continue to develop a stem cell-based therapy for retinal diseases such as retinitis pigmentosa.

A group of research physicians have discovered that using stem cells from a person’s own bone marrow has reported success in improving vision for patients with Retinitis Pigmentosa. The bone marrow stem cells come from the same person; therefore, there can be no rejection. Of the 33 eyes studied, 45.5% of individual eyes improved and 45.5% remained stable over the follow-up period when they typically have been worsening. Vision improvement is 98.4% likely to be a consequence of this treatment.

A US clinician has received a five-year £6.1 million grant to investigate the potential of advancing a gene therapy currently used in dogs to help retinitis pigmentosa (RP) patients. The treatment restored the night vision and stopped the progression of the daytime vision-loss in dogs with progressive retinal atrophy (PRA). PRA is an inherited condition in dogs and is caused by the same genes that are responsible for RP. This new grant will allow clinicians to build on primary studies in preparation for a possible clinical trial in human patients with RP.

Sparing Vision, a French biotech, plans to use a naturally occurring protein called rod-derived cone-viability factor, which binds to a peptide on cone photoreceptor cells in the retina and allows more glucose to enter the cell. By allowing more glucose in, it will slow down or prevent cell death; thus stopping vision loss. This could be beneficial for patients with retinitis pigmentosa.

The nonprofit biomedical institute is seeking to acquire samples of every drug ever developed to see if they can be used to treat diseases besides those for which they were intended. That means collecting roughly 10,000 to 11,000 compounds discovered since the end of the 19th century. Most never made it to market, often because they weren’t effective or had unexpected side effects.

ProQR Therapeutics N.V. announced the results for their clinical trial of QR-110 LCA 10 is on track, and eight out of twelve patients have been enrolled in a Phase 1/2 trial. The results for safety and efficacy for the trial are expected to be announced in the second half of 2018. Currently, they planing to announce data from a QR-421 study for Usher Syndrome. The organization has received $7.5 million in funding from the Foundation Fighting Blindness (FFB) and hopes to use QR-421a for Usher Syndrome Type 2A to target mutations in exon 13.

For the last couple years, Ophthalmologist Dr. Kang Zhang and UC San Diego researchers have been working with CRISPR by injecting it into the eyes of mice with Retinitis Pigmentosa. According to Dr. Zhang, they have been able to bring back 30 percent of vision and sometimes 50 percent of vision. Zhang’s lab has recently received the green light to start clinical trials this fall and if the trial goes well then CRISPR can be applied to all human genetic diseases or conditions.

Researchers at Duke University believe they have developed an approach to treat retinal conditions such as Retinitis Pigmentosa, which include misfolded proteins in the cell that the eye cannot process. Scientists have shown by boosting the cells’ ability to process misfolded proteins could keep them from clustering inside the cell. They created and tested the strategy in mice, significantly delaying the onset of blindness. This technique would not be used to prevent cell death retinal diseases but also neurodegenerative diseases such as Huntington’s, Parkinson’s, and Alzheimer’s.

David Rand, Marie Jakešová, Gur Lubin, Ieva Vėbraitė, Moshe David-Pur, Vedran Đerek, Tobias Cramer, Niyazi Serdar Sariciftci, Yael Hanein, Eric Daniel Głowacki

A simple retinal prosthesis is being developed in collaboration between Tel Aviv University in Israel and Linköping University in Sweden. Fabricated using cheap and widely-available organic pigments used in printing inks and cosmetics, it consists of tiny pixels like a digital camera sensor on a nanometric scale. Researchers hope that it can restore sight to blind people.

Ekaterina S. Lobanova, Stella Finkelstein, Jing Li, Amanda M. Travis, Ying Hao, Mikael Klingeborn, Nikolai P. Skiba, Raymond J. Deshaies, Vadim Y. Arshavsky

New research outlines a strategy that in mouse models significantly delayed the onset of blindness from inherited retinal degeneration such as retinitis pigmentosa.

Bill Whitaker of CBS’s 60 minutes interviewed Feng Zeng to learn more about Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR). Whitaker’s interview with Zhang provides basic facts that are accessible to anyone on CRISPR and its possibility of not only curing genetic diseases but preventing them altogether.

An Ottawa-based company, iBionics, is working to improve the effectiveness of vision-restoring technology by developing a bionic retina, the Diamond Eye implant. iBionics is targeting for full approval and commercial availability by 2024.

One of these recent discoveries doesn't replace an entire eye, but supplants a major component of vision. It holds some promise for millions of people who could otherwise go blind. In a first, scientists in China have created artificial photoreceptors to help blind mice see.

ReNeuron, a developer of cell-based therapeutics, received a $1.5 million grant award from the UK Innovations agency. The project will allow further development of cell banks of ReNeuron’s hRPC candidate and as well as the development of product release assays for late-stage clinical development. The hRPC therapy is currently being tested in a Phase III clinical trial in the US for patients suffering retinitis pigmentosa.

A retinal implant allowed a 69 year old woman with macular degeneration to see more than double the usual number of letters on the vision chart. Luxturna, the gene therapy was approved by the FDA in 2017, corrects a mutation found in Leber congential amaurosis (LCA).

Caroline C. W. Klaver, MD, PhD; Alberta A. H. J. Thiadens, MD, PhD

Children with retinitis pigmentosa who received vitamin A supplementation were associated with slower rate of cone electroretinogram amplitude compared to children who did not, a small study found.

This story is designed to help you find an answer to the question: will a stem cell therapy work for me? To get an answer, Dr. Mary Sunderland of the Foundation Fighting Blindness Canada, suggests that you pay attention to three key points when you read new stories about stem cell discoveries or clinical trials...

Rajiv Gandhi Govindaraj, Misagh Naderi, Manali Singha, Jeffrey Lemoine, Michal Brylinski

Researchers at the LSU Computational Systems Biology group have developed a sophisticated and systematic way to identify existing drugs that can be repositioned to treat a rare disease or condition. They have fine-tuned a computer-assisted drug repositioning process that can save time and money in helping these patients receive effective treatment.

Odylia Therapeutics aims to advance gene therapies that are getting left behind. Odylia’s focus is gene therapies with scientific promise but limited commercial opportunity that maybe gathering dust on the selves of labs or companies.

Three blind mice could be a thing of the past. Scientists have restored the sight of blind mice by implanting tiny gold prosthetic photoreceptors into their eyes. So far, this incredible technique has only been carried out on mice. However, the work holds some hope for people with degenerative eye diseases such as retinitis pigmentosa or macular degeneration.

Pixium Vision, a company developing innovative bionic vision systems to enable patients who have lost their sight to lead more independent lives, announces today the world’s first successful human implantation and activation of PRIMA, its new generation miniaturized wireless photovoltaic sub-retinal implant, in a patient with severe vision loss from atrophic dry Age-related Macular Degeneration (AMD).

A French biopharma company has announced their plans to carry out human trials of a new treatment that would insert genes from light-seeking algae into the eyes of patients with inherited blindness in order to help them regain sight. The treatment involves optogenetics, a technique that converts nerve cells into light sensitive cells.

GenSight will start a clinical trial in the UK testing a combination of gene therapy and a wearable device to restore sight in patients with retinitis pigmentosa. The Phase I and II trial, PIONEER, will study the safety and tolerability of GenSight’s therapy called GS030, in patients with end-stage retinitis pigmentosa with vision not better than “counting fingers.” The first patient will be tested in the first quarter of 2018 and outcomes will be measured after a year.

What this means for Usher syndrome: If GenSight’s therapy succeeds, it will very likely be tested in other diseases such as Usher syndrome.

GenSight Biologics, a biopharma company focused on discovering and developing innovative gene therapies for retinal neurodegenerative diseases and central nervous system disorders, announced UK Medicines and Healthcare Regulatory Agency (MHRA) acceptance of the Company’s Clinical Trial Application (CTA) to initiate the PIONEER Phase I/II study of GS030 in patients with Retinitis Pigmentosa (RP).

Raghavi Sudharsan, Daniel P. Beiting, Gustavo D. Aguirre, William A. Beltran

In studying the late stages of disease in two different canine models of retinitis pigmentosa, a group of progressive and inherited blinding diseases, researchers found commonalities, specifically involving the innate immune system. The findings point to potential new treatment options for the conditions.

The prestigious Institute of Ocular Microsurgery in Barcelona implanted the first patient in Spain with IRIS® II, a bionic vision system equipped with a bio-inspired camera and a 150-electrode epi-retinal implant that is designed to be explantable.

The FDA has granted GenSight’s developing drug, GS030, Orphan Drug Disease Designation for the treatment of retinitis pigmentosa.

The Foundation Fighting Blindness Clinical Research Institute (FFB-CRI) has announced an investment of up to $7.5 million to advance the potential therapy into and through a Phase II clinical trial for the usage of N-acetylcysteine-amide (NACA). NACA has recently emerged as a promising drug for Retinitis Pigmentosa because in several FFB-funded lab studies at Johns Hopkins University, it has slowed down retinal degeneration.

Tongchao Li, Nikolaos Giagtzoglou, Dan Eberl, Sonal Nagarkar-Jaiswal, Tiantian Cai, Dorothea Godt, Andrew K Groves, Hugo J Bellen.

Myosins play essential roles in the development and function of auditory organs and multiple myosin genes are associated with hereditary forms of deafness. Our work reveals a novel mechanism that regulates protein complexes affected in two forms of syndromic deafness and suggests a molecular function for Myosin IIa in auditory organs.

João Carlos Ribeiro, Bárbara Oliveiros, Paulo Pereira, Natália António, Thomas Hummel, António Paiva & Eduardo D. Silva

Study aimed at identifying and characterizing putative differences in olfactory capacity between patients with USH and controls, as well as among the subtypes of USH.

Guilian Tian, Richard Lee, Philip Ropelewski, and Yoshikazu Imanishi

The purpose of this study was to obtain an Usher syndrome type III mouse model with retinal phenotype.

Debra A. Thompson, Robin R. Ali, Eyal Banin, Kari E. Branham, John G. Flannery, David M. Gamm, William W. Hauswirth, John R. Heckenlively, Alessandro Iannaccone, K. Thiran Jayasundera, Naheed W. Khan, Robert S. Molday, Mark E. Pennesi, Thomas A. Reh,Richard G. Weleber, David N. Zacks, and for the Monaciano Consortium.

The present position paper outlines recent progress in gene therapy and cell therapy for this group of disorders [retinal dystrophies], and presents a set of recommendations for addressing the challenges remaining for the coming decade.

Ben Shaberman provides an overview of emerging therapies for Usher syndrome in the article "Saving Vision for People with Usher Syndrome" in the July/August 2014 edition of Hearing Loss Magazine.

"A highly potent synthetic form of THC, the substance in marijuana that produces a high for users, has shown strong vision-preserving effects in rats with a form of autosomal dominant retinitis pigmentosa (adRP). ”

Stephen E. Zrada, Kevin Braat, Richard L. Doty, Alan M. Laties

Olfactory testing should be included as a part of test batteries used for comprehensive evaluation of patients with USH1 and USH2, this may aid in the classification of specific genotypic and phenotypic forms, and in the identification of the subset of patients with significant smell deficits, thereby providing the clinician with an opportunity to counsel individuals with USH-related olfactory dysfunction.