Clinical Trials for Usher Syndrome

Source: ClinicalTrials.gov — U.S. National Library of Medicine — A database of privately and publicly funded clinical studies conducted around the world (U.S. National Library of Medicine, public domain).

This page lists clinical trials related to Usher Syndrome from the ClinicalTrials.gov database.

Trial Summary

• Total studies: 38
• Recruiting: 9
• Active, not recruiting: 5
• Completed: 13
• Other: 11

Results are refreshed periodically and may not reflect the most current information available from ClinicalTrials.gov.

Recruiting Trials

NCT02435940 — Inherited Retinal Degenerative Disease Registry

The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation. It is a patient-initiated registry accessible via a secure on-line portal at www.MyRetinaTracker.org. Affected individuals who register are guided to create a profile that captures their perspective on …

NCT03011541 — Stem Cell Ophthalmology Treatment Study II

This study will evaluate the use of autologous bone marrow derived stem cells (BMSC) for the treatment of retinal and optic nerve damage or disease.

NCT04665726 — Natural History Study of Usher Syndrome ( Light4Deaf )

Clinical centres in the LIGHT4DEAF consortium have developed and will continue to improve a reliable, early molecular diagnosis and protocols for full clinical characterisation of Usher syndrome, which will be valuable for the foreseen USH clinical trials. The clinical arm of the project aims at performing a deep-phenotyping of retinal degeneration, hearing loss, vestibular dysfunction, neuroco…

NCT05355415 — Adaptive Optics Imaging of Outer Retinal Diseases

The objective of the study is to collect adaptive optics (AO) retinal images from human subjects with outer retinal diseases (diseases of the outer retina including photoreceptor, retinal pigment epithelium (RPE), basement membrane or choroidal pathologies) to develop new diagnostic methods, biomarkers, and clinical endpoints.

NCT06591793 — Study of Subretinally Injected AAVB-081 in Patients With Usher Syndrome Type IB (USH1B) Retinitis Pigmentosa

The purpose of the 081-101 study is to evaluate the safety and tolerability of a single subretinal injection of AAVB-081 in USH1B patients with retinitis pigmentosa due to a mutation in the MYO7A gene. The study will also assess the initial efficacy following AAVB-081 administration.

NCT06627179 — Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene

The purpose of this Phase 2b study is to evaluate the safety and tolerability of ultevursen administered via intravitreal injection (IVT) in subjects with Retinitis Pigmentosa (RP) due to mutations in exon 13 of the USH2A gene. This is a multicenter Double-masked, Randomized, Sham-controlled study which will enroll 81 subjects.

NCT06789445 — A Study to Investigate the Safety of OpCT-001 in Adults Who Have Primary Photoreceptor Disease (CLARICO)

Study OpCT-001-101 is a Phase 1/2a first-in-human, multisite, 2-part interventional study to evaluate the safety, tolerability, and the effect on clinical outcomes of OpCT-001 in approximately 54 adults with primary photoreceptor (PR) disease. Phase 1 focuses on safety and features a dose-escalation design. Phase 2 is designed to gather additional safety data and assess the effect of OpCT-001 o…

NCT07278843 — Natural History of Photoreceptor Degeneration in USH1B: Clinical Parameters and Validation of Functional Vision Tests in MYO7A

Inherited retinal diseases (IRDs) are a group of degenerative disorders that cause progressive vision loss. Retinitis pigmentosa (RP) is the most common form, with a global prevalence of approximately 1 in 4,500. About 20-30% of these cases are syndromic, most notably Usher syndrome (USH), which combines hearing loss with visual impairment. Usher syndrome type 1 (USH1), the most severe form, pr…

NCT07548944 — Observational Study to Investigate the Short-term Effects of Transcorneal Electrical Stimulation on Visual Performance

Retinitis pigmentosa and similar degenerative diseases of the retina lead to progressive loss of vision. TES therapy with the CE-marked OkuStim® System is a treatment approved in the EU for slowing the progression of the disease. Patients increasingly report short-term subjective improvements in vision, which have not yet been systematically investigated. This exploratory study is conducted to …

Active, Not Recruiting

NCT02065011 — A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of SAR421869 in Patients With Usher Syndrome Type 1B

Primary Objective:

To evaluate the long-term safety and tolerability of SAR421869 in patients with Usher syndrome Type 1B

Secondary Objective:

To assess long-term safety and biological activity of SAR421869

NCT03146078 — Rate of Progression in USH2A-related Retinal Degeneration

The overall goal of this project funded by the Foundation Fighting Blindness is to characterize 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).

RUSH2A Extension Study: The purpose of this addendum is to extend RUSH2A to 7- and 9-year visi…

NCT03655223 — Early Check: Expanded Screening in Newborns

Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and families who screen positive, and 3) evaluate the Early Check program. The Early Check screening will lead to earlier identification of newborns with rare health condi…

NCT04765345 — Rate of Progression of PCDH15-Related Retinal Degeneration in Usher Syndrome 1F

The overall goal of this project, co-funded by the Foundation Fighting Blindness and the USHER 1F Collaborative is to characterize the natural history of disease progression in patients with PCDH15 mutations in order to accelerate the development of outcome measures for clinical trials.

NCT05537220 — Oral N-acetylcysteine for Retinitis Pigmentosa

Retinitis pigmentosa (RP) is an inherited retinal degeneration caused by one of several mistakes in the genetic code. Such mistakes are called mutations. The mutations cause degeneration of rod photoreceptors which are responsible for vision in dim illumination resulting in night blindness. After rod photoreceptors are eliminated, gradual degeneration of cone photoreceptors occurs resulting in …

Not Yet Recruiting

NCT06592131 — BF844 Safety and Pharmacokinetic Study in Healthy Volunteers

First-in-Human Phase-1 Clinical Trial to Assess Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Food Effect of Single and Multiple Ascending Doses of BF844 when Administered Orally to Healthy Adult Participants.

NCT07290530 — 24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome

The goal of this clinical trial is to learn if NPI-001 works to prevent progression of retinitis pigmentosa in adults diagnosed with Usher syndrome. It will also provide information about the safety of NPI-001. The main questions it aims to answer are:

Does NPI-001 slow down the loss of photoreceptors? What medical problems do participants have when taking NPI-001? Researchers will compare NPI…

Enrolling by Invitation

NCT00341874 — Genetic Analyses of Nonsyndromic and Syndromic Deafness in Pakistan

Objective: One objective of this study is to genetically map and identify mutated genes for human hereditary hearing loss. A second objective is to study the function of these genes in the auditory system using mouse models. Human hereditary hearing impairment is the result of abnormal ear development, abnormal ear function or both. Although the genes for numerous deafness loci have been mapped…

Completed Trials

NCT00001347 — Study of Usher Syndromes, Type 1 and Type 2

The purpose of this investigation is to gain additional knowledge about what causes type 1 and type 2 Usher syndrome-inherited diseases that can cause balance problems and impaired hearing and vision-and to develop better diagnostic tests. Patients with type 1 Usher syndrome usually are deaf from birth and have speech and balance problems. Patients with type 2 disease generally are hearing impa…

NCT00016471 — A Genetic Analysis of Usher Syndrome in Ashkenazi Jews

Hearing loss and loss of vision can be very harmful to the well-being and life of people who suffer from them. Usher syndrome is the name of a disease where people have both hearing loss and visual loss. In fact more than half of people who are deaf and blind have Usher syndrome. In this study we are trying to find the causes of all types of Usher syndrome and to learn more about how the eyes a…

NCT00106743 — Natural History and Genetic Studies of Usher Syndrome

This study will explore clinical and genetic aspects of Usher syndrome, an inherited disease causing deafness or impaired hearing, visual problems, and, in some cases, unsteadiness or balance problems. Patients with type 1 Usher syndrome usually are deaf from birth and have speech and balance problems. Patients with type 2 disease generally are hearing impaired but have no balance problems. Pat…

NCT00231010 — Molecular Genetics of Retinal Degenerations

This multinational study will investigate the inheritance of genetic retinal degeneration in families of different nationalities and ethnic backgrounds in order to identify the genes that, when altered, cause retinal degeneration. The retina is a light-sensitive membrane lining the back part of the eye. It relays vision signals to the brain, which the brain interprets into sight. When the retin…

NCT00502944 — Two Approaches to Routine HIV Testing in a Hospital Emergency Department

This study will compare the effectiveness of two different approaches to providing routine HIV counseling, testing, and referral services in an urban hospital emergency department setting.

NCT01258582 — Two Approaches to Routine HIV Testing in a Hospital Emergency Department

This study was initially designed to compare the effectiveness of two different approaches to providing routine HIV counseling, testing, and referral services in an urban hospital emergency department setting. The initial phase was closed in July 2008. The second phase of this trial consists of establishing the differences in acceptability of HIV testing based on the method of testing offered (…

NCT01530659 — Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa

This clinical trial is a single-site, 30 patient study for participants who have early stage retinitis pigmentosa, or Usher syndrome (type 2 or 3). Funding Source - FDA OOPD and Foundation Fighting Blindness.

NCT03319524 — Clinical and Genetic Testing of Patients With Usher Syndrome

This study is aimed to characterize Russian population of Usher patients.

NCT03814499 — Natural History Study in Subjects With Usher Syndrome

Natural History Study in Subjects With Usher Syndrome ((USH1B) is a multi-centre, longitudinal, observational study designed to evaluate disease progression in subjects with USH1B by several vision-related assessments.

NCT03780257 — Study to Evaluate Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene

The purpose of this study is to evaluate the safety and tolerability of QR-421a administered via intravitreal injection (IVT) in subjects with Retinitis Pigmentosa (RP) due to mutations in exon 13 of the USH2A gene.

NCT03901391 — Prospective Open Clinical and Genetic Study of Patients With Retinitis Pigmentosa

This study is aimed to characterize Russian population of Retinitis Pigmentosa

NCT04355689 — Safety and Efficacy of NPI-001 Tablets for RP Associated With Usher Syndrome

This study will examine the safety and efficacy of NPI-001 Tablets as compared to placebo for 24 months in subjects with vision loss due to RP associated with Usher syndrome.

NCT04906135 — Auditory Neural Function in Implanted Patients With Usher Syndrome

Usher syndrome (USH) causes extensive degeneration in the cochlear nerve (CN), especially in CN fibers innervating the base of the cochlea. As the first step toward developing evidence-based practice for managing implant patients with USH, this study evaluates local neural health, as well as the neural encoding of temporal and spectral cues at the CN in implanted patients with USH. Aim 1 will d…

Other (Terminated)

NCT00004345 — Study of Dietary N-3 Fatty Acids in Patients With Retinitis Pigmentosa and Usher Syndrome

OBJECTIVES: I. Examine the concentration of docosahexanoic acid (DHA) and other n-3 fatty acids in plasma, erythrocyte, and adipose tissue in patients with various forms of retinitis pigmentosa and Usher syndrome.

II. Determine the synthesis and catabolism of DHA from linolenic acid in these patients.

III. Determine the synthesis, absorption, and catabolism of DHA under different dietary cond…

Other (Unknown)

NCT03990727 — Phenotype Correlates Genotype of Inherited Retina Dystrophies, Retinitis Pigmentosa, Con>Rod Dystrophies.

Patients with retina dystrophies (retinitis pigmentosa, cone>rods dystrophies, Usher and syndromic) will be correlated with genotype and validate inheritance mode by segregation analysis.

NCT01505062 — Study of SAR421869 in Participants With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B

To evaluate the safety and tolerability of ascending doses of subretinal injections of SAR421869 in participants with Usher syndrome type 1B.

To evaluate for possible biological activity of SAR421869.

NCT01954953 — Clinical and Genetic Examination of Usher Syndrome Patients’ Cohort in Europe

This study aims to characterize Usher patients in order to correlate this data with genetic information.

Tasks:

• Standardization and improvement of Usher syndrome diagnosis: refine and elaborate special tests of visual and otological function in association with genotype that enable to determine the most significant markers for Usher disease progression and therapeutic effect.
• Perform geno…

NCT04820244 — Characterizing Rate of Progression in USHer Syndrome (CRUSH) Study

Mutations in USH2A give rise to two phenotypes: Usher syndrome type 2a (USH2A) and nonsyndromic RP (USH2A associated nsRP). Usher syndrome is the most common form of congenital deafblindness. Patients with Usher syndrome are hearing impaired or profoundly deaf from birth and this can be rehabilitated with hearing aids or a cochlear implant. Furthermore, these patients develop retinitis pigmento…

NCT05085964 — An Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa

PQ-421a-002 (Helia) is an open-label, extension study to evaluate the safety, tolerability and efficacy of QR 421a (ultevursen) administered via intravitreal (IVT) injection in one or both eyes, in subjects ≥ 12 years of age with RP due to mutations in exon 13 of the USH2A gene, for an anticipated period of 24 months, or until provision of continued treatment by other means is available, provid…

NCT05158296 — Study to Evaluate the Efficacy Safety and Tolerability of Ultevursen in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene (Sirius)

The purpose of this study is to evaluate the efficacy safety and tolerability of ultevursen administered via intravitreal injection (IVT) in subjects with Retinitis Pigmentosa (RP) due to mutations in exon 13 of the USH2A gene.

NCT05176717 — Study to Evaluate the Efficacy Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene With Early to Moderate Vision Loss (Celeste)

The purpose of this study is to evaluate the efficacy safety and tolerability of QR-421a administered via intravitreal injection (IVT) in subjects with Retinitis Pigmentosa (RP) due to mutations in exon 13 of the USH2A gene with early to moderate vision loss.