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Current Open Clinical Trials/Natural History Studies

These clinical trials have the potential to benefit people with Usher syndrome. 

Each research project listed below will include a graphic of the research continuum. The gold box indicates where this project falls on the continuum, illustrating its progress towards reaching people living with Usher syndrome, from "Bench to Bedside."

Click here to learn more about the different stages in the research continuum.

Stem Cell Therapy Clinical Trials

ReNeuron

Research Continuum Graphic. Research in Clinical Trial Phase I-II. Sections shown in grey: Basic & Translational, Pre-clinical, Clinical trials Phase III, and Treatments-Phase IV. Highlighted in yellow: Clinical Trials Phase I and II.

Clinical Trial for Safety and Tolerability of hRPC in Retinitis Pigmentosa (hRPCRP)

ReNeuron is a UK-based stem cell research company that focuses on developing stem-cell therapies that target areas of "significant unmet or poorly met medical need." They have used their stem cell technologies to develop cell-based therapies for significant diseases where cells can be readily administered to any eligible patient without the need for additional drug treatment. Currently, they are developing the human retinal progenitor cell line (hRPC) for the treatment of retinal diseases such as retinitis pigmentosa (RP). A phase I/IIa clinical trial is in process in which participants with RP will receive a single injection of the hRPC cells in one eye to evaluate safety and tolerability and will be followed up for two years. 


jCyte

Research Continuum Graphic. Research in Clinical Trial Phase I-II. Sections shown in grey: Basic & Translational, Pre-clinical, Clinical trials Phase III, and Treatments-Phase IV. Highlighted in yellow: Clinical Trials Phase I and II.

Clinical Trial for Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa 

jCyte was founded in 2012 by Drs. Henry Klassen and Jing Yang, who have spent decades investigating the mechanisms that drive retinitis pigmentosa (RP) and other retinal diseases. Their work led to the creation of retinal progenitor cells (RPCs), a type of stem cell that can only become retinal cells. Clinical studies have shown that these cells could rescue and even replace diseased retinal cells. Early results from a phase 1/2a study have shown the treatment is safe and does not trigger an immune response. They have completed the enrollment and recruitment for their current phase 2b trial. 


Cedars-Sinai

Research Continuum Graphic. Research in Clinical Trial Phase I-II. Sections shown in grey: Basic & Translational, Pre-clinical, Clinical trials Phase III, and Treatments-Phase IV. Highlighted in yellow: Clinical Trials Phase I and II.
Cedars Sinai Logo

Cedars-Sinai
Cedars-Sinai, a non-profit healthcare organization based in Los Angeles, has received authorizations from the FDA to launch a 16-person, Phase 1/2a clinical trial of human neural progenitor cells--stem cells that have almost developed into neural cells--for patients with RP.  The trial is being funded by a $10.5 million grant from the California Institute for Regenerative Medicine. The study's principal investigator is Clive Svendsen, PhD, professor of Biomedical Sciences and Medicine and director of the Cedars-Sinai Board of Governors Regenerative Medicine Institute. 


Gene Therapy Based Clinical Trials

ProQR's Stellar Clinical Trial

Research Continuum Graphic. Research in Clinical Trial Phase I-II. Sections shown in grey: Basic & Translational, Pre-clinical, Clinical trials Phase III, and Treatments-Phase IV. Highlighted in yellow: Clinical Trials Phase I and II.

STELLAR or PQ-421a-001, is a first-in-human study that will initially include approximately 18 adults with vision loss due to mutations in exon 13 of the USH2A gene and will be conducted at about seven expert sites in North America and Europe. QR-421a is designed to exclude exon 13 from the USH2A mRNA, thereby removing the mutation in exon 13. This approach is also known as exon skipping. RNA is the "blueprint" for protein synthesis, and the skipping of exon 13 in the "blueprint" is expected to lead to a shortened but functional Usherin protein. 


Natural History Studies

Natural History Study In Subjects With USH1B

Research Continuum Graphic. Research in Pre-clinical stage. Sections shown in grey: Basic & Translational, Clinical trials: Phase I, Phase II, Phase III, Treatments-Phase IV. Highlighted in yellow: Pre-Clinical.

The natural history study is being conducted to understand the progression of the disease in patients with USH1B as measured by a number of vision-related assessments. Disease progression will be evaluated as change over time in these measures, and associations between endpoints will be examined. They are recruiting patients in Naples, Italy, in Madrid, Spain, and Rotterdam, Netherlands. 

Locations and Principal Investigators: 

Francesca Simonelli
Naples, Italy
Eye Clinic of the University of Campania Luigi Vanvitelli
Email: Francesca.SIMONELLI@unicampania.it

Ingeborgh van den Born
Rotterdam, Netherlands
Stichting Oogziekenhuis Rotterdam
Email: born@oogziekenhuis.nl

Carmen Ayuso
Madrid, Spain
Instituto de Investigacion Sanitaria de la Fundacion Jimenez Diaz
Email: cayuso@fjd.es

Link to Natural History Study For USH1B


USH1C Natural History Study

Research Continuum Graphic: Research in Basic/Translational stage. Highlighted in yellow: Basic/Translational. All other subsequent sections shown in grey: Pre-Clinical, Clinical Trials Phase I, Phase II, and Phase III, and Treatments-Phase IV.
Profile Picture of Dr. Jennifer Lentz

Jennifer Lentz, Ph.D. and her team at the Neuroscience Center of Excellence, LSU--New Orleans are recruiting patients for three Natural History studies on Usher syndrome.

Studies being conducted by Dr. Lentz and her team include:

  • Usher Syndrome in Louisiana Natural History Study
  • Prospective Natural Study of Vision Loss in USH 1C: A Multicenter Study
  • Prospective Natural History Study of the Loss of Balance in USH 1C

For more information about these special opportunities:


USH2A Natural History Study

Research Continuum Graphic: Research in Basic/Translational stage. Highlighted in yellow: Basic/Translational. All other subsequent sections shown in grey: Pre-Clinical, Clinical Trials Phase I, Phase II, and Phase III, and Treatments-Phase IV.
Profile Picture of Dr. Jacque Duncan

According to Dr. Jacque Duncan, RUSH2A Study Chair, "Natural history studies are important to prepare investigators to design clinical trials. It's essential to know how vision is affected in patients with USH2A mutations in order to determine what to measure and how much change we expect to see over time, in order to know whether a potential treatment improves the vision or decreases the rate of vision loss in the long run." 


Clinical Trials and Natural History Studies - Related Science News

ProQR Therapeutics announces positive findings from a planned three-month interim analysis of its Phase I/II Stellar trial of QR-421a to treat retinitis pigmentosa (RP) in adults who have Usher syndrome type 2 or non-syndromic RP due to mutations in a specific part of the USH2A gene, called exon 13. QR-421a, ProQR’s experimental RNA therapy is designed to skip exon 13 in the RNA with the aim to stop or reverse vision loss. QR-421a given as a single intravitreal injection was safe and well-tolerated. It also showed early and encouraging evidence of activity, with 25% of patients showing a benefit across multiple outcome measures.

What this means for Usher syndrome: While this particular experimental drug is only applicable to those with Usher syndrome due to mutation(s) in exon 13 of the USH2A gene, early positive findings mean that the trial will continue as designed and could lead to other RNA/drug therapies that will benefit people with Usher syndrome caused by other mutations.

Researchers from Sun Yat-sen University are attempting to test the efficacy and safety of oral minocycline for the treatment of retinitis pigmentosa (RP). Minocycline, a second generation, semi-synthetic tetracycline antibiotic, a highly lipophilic molecule and can easily pass through the blood-brain barrier. Several clinical trials and animal experiments have reported that minocycline exert anti-apoptotic, anti-inflammatory and antioxidant effects in treating neurodegenerative diseases. They have proposed to test the effect and safety of oral minocycline for RP.

What this means for Usher syndrome: If clinical trials are successful, Usher patients will have the possibility to be included in this non-invasive therapy to prevent photoreceptor cell death.

The identification of the causes and understandings of the functions of many inherited retinal diseases (IRDs) has led to the development of exciting new gene/disease specific treatment opportunities. There are numerous treatments available that are aimed at a level of not just targeting specific genes but also certain mutations. Therefore, gene/disease specific treatments rely on persistent target cells and sufficient visual function to work effectively. However, many patients are outside of this window of opportunity and must rely on other approaches.

What this means for Usher syndrome: there are many different treatment and therapy options that are in development for retinitis pigmentosa.

GenSight Biologics, a biopharma company focused on discovering and developing gene therapies for retinal neurodegenerative diseases and central nervous system disorders, announced that the independent Data Safety Monitoring Board (DSMB) has completed its first safety review of the ongoing PIONEER Phase I/II clinical trial of GS030 combining gene therapy and optogenetics for the treatment of Retinitis Pigmentosa (RP). No safety issues have been found for the first cohort of subjects who received a single intravitreal injection of 5e10 vg combined with a wearable optronic visual stimulation device. Therefore, the DSMB has recommended moving forward with the plan without any modification to the protocol and recruiting the second cohort of subjects to receive an escalated dose of 1.5e11 vg.

What this means for Usher syndrome: This clinical trial could lead to a treatment for RP and may be applicable to Usher syndrome.

ReNeuron Group plc has announced the latest updated positive preliminary results in the company’s ongoing phase 1 and 2a clinical trial of its human retinal progenitor cell (hRPC) therapy candidate in retinitis pigmentosa. All three subjects in the first group of phase 2a have demonstrated a sustained and further improvement in vision compared to their pre-treatment baseline.

What this means for Usher syndrome: This potential therapy could provide a means to restore lost vision in Usher syndrome patients.

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.

ProQR Therapeutics announced that the FDA has cleared the Investigational New Drug (IND) application for QR-421a. QR-421a is a first-in-class investigational RNA-based oligonucleotide designed to address the underlying cause of the vision loss associated with Usher syndrome type 2 and non-syndromic retinitis pigmentosa due to mutations in exon 13 of the USH2A gene. ProQR plans to start enrolling patients in a Phase 1/2 trial named STELLAR in the coming months with preliminary data expected in mid-2019.

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.

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.

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).

jCyte, one of the leaders in developing cell-based therapies for RP, announces positive 12-month results from its Phase 1/2a clinical trial to treat retinitis pigmentosa with stem cells.

Encouraging signs this week that the FDA is serious when it granted Regenerative Medicine Advanced Therapy (RMAT) status to the CIRM-funded jCyte clinical trial for a rare form of blindness. This is a big deal because RMAT seeks to accelerate approval for stem cell therapies that demonstrate they can help patients with unmet medical needs.

Our latest USH Talk features researcher Dr. Jacque Duncan from the University of California, San Francisco. Dr. Duncan shares an overview of an upcoming clinical trial that aims to study the rate of progression of USH2A related retinal degeneration: The RUSH2A Study.

Three patients have been treated so far with no serious adverse events after six months. They have been allowed to proceed to delivering a larger dose to the next group of patients.

The US Food and Drug Administration (FDA) has approved Oxford BioMedica's Investigational New Drug (IND) application for the Phase I/IIa clinical development of UshStat to treat Usher syndrome type 1B. Oxford Biometica will enroll 18 patients with Usher type 1b at the Casey Eye Institute in Portland, Oregon. The study will be lead by Dr. Richard Weleber.

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