A list of research studies and trials, grouped by research type, currently underway for patients with Usher syndrome. Please refer to the link under each study for more information on that study. Please be aware that all information provided are for informational purposes only, and are in no way endorsed or approved by Usher Syndrome Ireland.
UniRare, (Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants), is a 4-year, international natural history study that is currently enrolling patients with USH1B at several clinics in the US, with more clinics internationally including Europe and the UK to begin enrollment throughout the year.
Sponsors and Collaborators:
Jaeb Center for Health Research & Foundation Fighting Blindness
Principal Investigator: Study Chair: José-Alain Sahel, MD,Director, UPMC Eye Center University of Pittsburgh School of Medicine
Locations: Currently enrolling patients at several sites in US. Clinics in Europe to begin enrollment soon.
More information can be found here:
https://clinicaltrials.gov/study/NCT05589714#collaborators-and-investigators
The overall goal of this project funded is to characterise the natural history of disease progression in patients with USH2A related retinal degeneration associated with congenital hearing loss (Usher syndrome type 2a) or non-syndromic retinitis pigmentosa (RP39).
Sponsors and Collaborators: Jaeb Center for Health Research and Foundation Fighting Blindness
Study Chair: Jacque Duncan, MD University of California, San Francisco
Locations: United States, Canada, France, Germany, Netherlands, and UK
More information can be found here: https://clinicaltrials.gov/.
This is a longitudinal, prospective natural history study with the main objective is to map the natural course of the visual and hearing deterioration in Usher Syndrome 2 and USH2A associated nsRP for upcoming genetic therapy studies over a time span of 4 years.
Sponsors and Collaborators: Radboud University and Stichting Ushersyndroom
Study Director: Dr Ronald Pennings
Principal Investigators: Erwin van Wyk, Dr; Carel Hoyng, Prof; Ronald Pennings, Dr
Location: Netherlands
More information can be found here: https://clinicaltrials.gov/..
The overall goal of this project is to characterise the natural history of disease progression in patients with PCDH15 mutations in order to accelerate the development of outcome measures for clinical trials.
Sponsors and Collaborators: Jaeb Center for Health Research, Usher 1F Collaborative, and Marjorie C. Adams Foundation
Study Chair: Katarina Stingl, MD Locations: United States, Canada, Israel, Germany, and Netherlands.
More information can be found here: https://clinicaltrials.gov/..
The objective of the study is to evaluate the natural progression of disease over time in USHIB patients.
Sponsors and Collaborators: Fondazione Telethon
Principal Investigators: Francesca Simonelli (Italy), Ingeborgh van den Born (The Netherland), and Carmen Ayuso (Spain)
Locations: Italy, Netherlands, and Spain.
More information can be found here: https://clinicaltrials.gov/..
ATSENA THERAPEUTICS is currently evaluating ATSN-301, a dual AAV vector-based gene therapy, to prevent blindness from MYO7A-associated Usher syndrome (USH1B), an inherited disease that affects the retina and the inner ear. More information can be found here: https://atsenatx.com/programs/ush1b/
Standard USH2A genes are too large to fit into a single AAV used in gene therapy to replace a faulty gene with a functional copy. Iveric Bio is currently in the research stage aiming to develop a smaller USH2A construct (minigene) to fit into an AAV and transcribe a functional protein. More information can be found here: https://ivericbio.com/our-science/#pipeline
**Editas Medicine have announced the discontinuation of internal investments in the Company’s inherited retinal disease (IRD) programs, and therefore are not progressing with EDIT-102 for USH2A.**
Editas Medicine recently made headlines around the world with their first ever in-human gene editing for a different inherited retinal disease, LCA. They are currently developing several programs, and one is EDIT-102 for Usher syndrome 2a (USH2A).
“Mutations in exon 13 of the USH2A gene are most often responsible for the development of USH2A. This information supports the design of a CRISPR medicine that edits exon 13 to restore healthy USH2A protein expression, consequently restoring the function of photoreceptors.” More information can be found here: https://www.editasmedicine.com/gene-editing-pipeline/
ReNeuron are using hRPC (human retinal progenitor cells) technology to potentially reduce or halt further vision loss. They also believe that these hRPCs will integrate into the retina and possibly mature into photoreceptors thus possibly restoring vision.
They are currently conducting a Phase 1/2a clinical trial in the US, UK and Spain with their hRPC therapy candidate for RP, independent of RP or USH type, so it may potentially benefit patients with Usher syndrome. The Company has previously reported positive preliminary data in the initial Phase 2a segment of the study. In 2020 the Company received regulatory approval to expand the Phase 2a study in both the US, the UK and in Spain.
More information can be found here: http://www.reneuron.com/products/hrpcs-for-retinitis-pigmentosa/
jCyte, is a stem cell therapy company that uses retinal progenitor cells (RPCs) in their treatment, and have reported promising results from its Phase 2b clinical trial of its therapy for people with retinitis pigmentosa (RP), Usher syndrome, and related conditions.
Update (Feb 2024): jCyte has announced plans to begin Phase 3 in the second-half of 2024. Read more here.
**This trial has been paused while ProQR seek outside investors to buy the programme**
ProQR trial Sirius investigates whether the RNA therapy Ultevursen (previously known as QR-421), using antisense oligonucleotide technology, is effective and safe for the treatment of retinitis pigmentosa due to USH2A exon 13 mutations. Based on previous positive results from phase 1/2 Stellar trial, ProQR has now begun this next phase.
More information can be found here: https://www.proqr.com/QR-421a-for-USH2A-RP
Bionic Sight is a company that are developing treatments for advanced stage of blindness. Their therapy combines the use of optogenetics, a gene used to express light sensitive protein in the ganglion cells, and an external device to drive it to send signals to the brain which may help to restore some function of sight to the patient. More information can be found here: https://www.bionicsightllc.com/clinical-trial-enrollment
Nacuity Pharmaceuticals 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. Their trial, SLO-RP, is currently enrolling patients in Australia with Usher syndrome in stage 1/2 to test the safety and efficacy of NP1-001 tablets over 24 months. More information can be found here: https://www.nacuity.com/pipeline/ and https://clinicaltrials.gov/.
Sparing Vision hopes to begin phase1/2 by end of 2021 for RP patients, independent of mutation, meaning it could potentially benefit patients with Usher syndrome. Sparing Vision’s therapy focuses on the use of RdCVF (Rod-derived cone viability factor) to express a protein in order to preserve the health and function of cone cells in the retina. More information can be found here: https://www.sparingvision.com/en/pipeline?id=62
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