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An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome.
5 clinical trials registered, 3 recruiting. Interventions under study include other interventions, drug therapy, medical devices, and procedural interventions. Pipeline includes 1 PHASE3, 1 NA. Research is sponsored by a mix of industry and academic institutions.
NCT ID | Title | Phase | Sponsor | Status |
|---|---|---|---|---|
[NCT04765345](https://clinicaltrials.gov/study/NCT04765345) |
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 6:52 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Rate of Progression of PCDH15-Related Retinal Degeneration in Usher Syndrome 1F |
— |
Jaeb Center for Health Research |
ACTIVE_NOT_RECRUITING |
[NCT05537220](https://clinicaltrials.gov/study/NCT05537220) | Oral N-acetylcysteine for Retinitis Pigmentosa | PHASE3 | Johns Hopkins University | ACTIVE_NOT_RECRUITING |
[NCT05355415](https://clinicaltrials.gov/study/NCT05355415) | Adaptive Optics Imaging of Outer Retinal Diseases | — | Food and Drug Administration (FDA) | RECRUITING |
[NCT03011541](https://clinicaltrials.gov/study/NCT03011541) | Stem Cell Ophthalmology Treatment Study II | NA | MD Stem Cells | RECRUITING |
[NCT02435940](https://clinicaltrials.gov/study/NCT02435940) | Inherited Retinal Degenerative Disease Registry | — | Foundation Fighting Blindness | RECRUITING |
195 publications have been identified in PubMed for retinitis pigmentosa-deafness syndrome. Kisho has analyzed 27 by research type. Research spans Review / Meta-Analysis (33%), Epidemiology / Natural History (30%), and Gene Therapy / Novel Therapeutics (15%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 9 | 33% |
Disease patterns and progression | 8 | 30% |
New treatment approaches | 4 | 15% |
Patient case studies | 3 | 11% |
Laboratory research | 2 | 7% |
Clinical study results | 1 | 4% |
Mauriac SA (2026). [PMID: 40994011](https://pubmed.ncbi.nlm.nih.gov/40994011/). *Mol Ther*. [Gene Therapy / Novel Therapeutics]
Karuntu JS (2025). [PMID: 39733931](https://pubmed.ncbi.nlm.nih.gov/39733931/). *Prog Retin Eye Res*. [Review / Meta-Analysis]
GBD 2021 Global Sepsis Collaborators (2025). [PMID: 41135560](https://pubmed.ncbi.nlm.nih.gov/41135560/). *Lancet Glob Health*. [Epidemiology / Natural History]
Redfield SE (2025). [PMID: 40248902](https://pubmed.ncbi.nlm.nih.gov/40248902/). *Am J Med Genet C Semin Med Genet*. [Epidemiology / Natural History]
Mordà D (2025). [PMID: 40998214](https://pubmed.ncbi.nlm.nih.gov/40998214/). *Prog Retin Eye Res*. [Review / Meta-Analysis]
D'Esposito F (2025). [PMID: 40149483](https://pubmed.ncbi.nlm.nih.gov/40149483/). *Genes (Basel)*. [Review / Meta-Analysis]
Kantaputra PN (2025). [PMID: 40466212](https://pubmed.ncbi.nlm.nih.gov/40466212/). *Int Dent J*. [Case Report / Case Series]
Chiang BK (2025). [PMID: 40736834](https://pubmed.ncbi.nlm.nih.gov/40736834/). *Adv Exp Med Biol*. [Review / Meta-Analysis]
Janáky M (2025). [PMID: 39846623](https://pubmed.ncbi.nlm.nih.gov/39846623/). *Vision (Basel)*. [Review / Meta-Analysis]
Li W (2025). [PMID: 40970667](https://pubmed.ncbi.nlm.nih.gov/40970667/). *Invest Ophthalmol Vis Sci*. [Gene Therapy / Novel Therapeutics]