Not applicableUnknownNCT05764980What this trial is testingNeurovisual Function in CHARGE SyndromeWho this might be right forCHARGE Syndrome Fondazione Policlinico Universitario Agostino Gemelli IRCCS 20
Not applicableLooking for participantsNCT05775367What this trial is testingCochlear Implants in Young Children With SSDWho this might be right forSingle Sided DeafnessUnilateral DeafnessHearing Loss, Unilateral+3 more University of North Carolina, Chapel Hill 60
Not applicableLooking for participantsNCT05902351What this trial is testingNatural History Study for Charcot Marie Tooth DiseaseWho this might be right forCharcot-Marie-Tooth DiseaseCharcot-Marie-ToothCharcot-Marie-Tooth Disease, Type IA+46 more Hereditary Neuropathy Foundation 10,000
Not applicableEnrolling By InvitationNCT06938542What this trial is testingPalliative Care Needs of Children With Rare Diseases and Their FamiliesWho this might be right forTrisomy 13 SyndromeArthrogryposis Congenita Multiplex With Intestinal AtresiaAsparagine Synthetase Deficiency+16 more Children's National Research Institute 480
Not applicableStudy completedNCT04202185What this trial is testingEvaluation of a Cohort of Congenital Deep Deafness Patients and/or With Auditory Neuropathy, Looking for DFNB9Who this might be right forCongenital Profound Hearing Loss Assistance Publique - Hôpitaux de Paris 150
Not applicableStudy completedNCT00016471What this trial is testingA Genetic Analysis of Usher Syndrome in Ashkenazi JewsWho this might be right forUsher SyndromeRetinitis PigmentosaCongenital Hearing Impairment National Center for Research Resources (NCRR)
Large-scale testing (Phase 3)Ended earlyNCT05176717What this trial is testingStudy 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)Who this might be right forRetinitis PigmentosaUsher Syndrome Type 2Deaf Blind+5 more Laboratoires Thea 5
Not applicableLooking for participantsNCT07548944What this trial is testingObservational Study to Investigate the Short-term Effects of Transcorneal Electrical Stimulation on Visual PerformanceWho this might be right forRetinitis Pigmentosa (RP)Usher SyndromeCone Rod Dystrophy Okuvision GmbH 30
Not applicableUnknownNCT04724265What this trial is testingCytomegalovirus (CMV) Perilymphatic FluidWho this might be right forHearing Loss, CochlearCytomegalovirus Congenital Assistance Publique - Hôpitaux de Paris 200
Testing effectiveness (Phase 2)Ended earlyNCT03107871What this trial is testingRandomized Controlled Trial of Valganciclovir for Cytomegalovirus Infected Hearing Impaired InfantsWho this might be right forCmv CongenitalCMVCongenital Cmv+2 more Albert Park 10
Large-scale testing (Phase 3)Ended earlyNCT05158296What this trial is testingStudy to Evaluate the Efficacy Safety and Tolerability of Ultevursen in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene (Sirius)Who this might be right forRetinitis PigmentosaUsher Syndrome Type 2Deaf Blind+5 more Laboratoires Thea 7
Not applicableNot Yet RecruitingNCT07786545What this trial is testingPilot Evaluation of the Developed Syntactic-Semantic Visual Configuration Intervention for Children With Language ImpairmentWho this might be right forLanguage ImpairmentAutismHearing Impaired Children+1 more Riphah International University 20
Not applicableActive Not RecruitingNCT04765345What this trial is testingRate of Progression of PCDH15-Related Retinal Degeneration in Usher Syndrome 1FWho this might be right forRetinal DegenerationRetinitis PigmentosaEye Diseases, Hereditary Jaeb Center for Health Research 44
Not applicableStudy completedNCT02455414What this trial is testingTracking Neurodegeneration in Early Wolfram SyndromeWho this might be right forType 1 DiabetesDiabetes InsipidusDiabetes Mellitus+1 more Washington University School of Medicine 101
Not applicableStudy completedNCT07420751What this trial is testingAssessment of Patient Experience With Auto-Captioning Glasses in NF2-Related-SchwannomatosisWho this might be right forNF2-related Schwannomatosis Massachusetts General Hospital 18
Testing effectiveness (Phase 2)UnknownNCT01773278What this trial is testingCholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)Who this might be right forSmith-Lemli-Opitz SyndromeCone-Rod DystrophyHearing Loss University of Colorado, Denver 100
Not applicableStudy completedNCT00106743What this trial is testingNatural History and Genetic Studies of Usher SyndromeWho this might be right forRetinitis Pigmentosa SyndromicCongenital DeafnessUsher Syndrome+2 more National Eye Institute (NEI) 249
Not applicableUnknownNCT02252601What this trial is testingEvaluation of the High Frequency Digit Triplet Test in Cystic FibrosisWho this might be right forCystic FibrosisSensorineural Hearing Loss University of Nottingham 388
Not applicableUnknownNCT04350619What this trial is testingNGS Assessment of Congenitally Deafned Children and Neonatal Deafness ScrenningWho this might be right forCongenital DeafnessSuspicion of Congenital Deafness Clinica Universidad de Navarra, Universidad de Navarra 220
Testing effectiveness (Phase 2)Looking for participantsNCT06789445What this trial is testingInvestigate the Safety of OpCT-001 in Adults Who Have Primary Photoreceptor Disease (CLARICO)Who this might be right forPrimary Photoreceptor DiseaseRetinitis Pigmentosa (RP)Usher Syndrome+6 more BlueRock Therapeutics 54