Clinical trials: Neonatal Hearing Impairment
Usher Syndrome, Retinitis Pigmentosa
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.
- Conditions
- Usher Syndrome, Retinitis Pigmentosa, Congenital Hearing Impairment
- Trial name
- NCT00016471
- Testing
- Audiogram, Electroretinogram
- Where
- United States
- Sponsor
- National Center for Research Resources (NCRR)
Sensorineural Hearing Loss, Long QT Syndrome
Determine the Incidence of Long QT Amongst a Large Cohort of Subjects Diagnosed With Unilateral or Bilateral Sensorineural Hearing Loss.
The purpose of this study is to determine the true incidence of long QT (LQT) amongst a large cohort of subjects diagnosed with unilateral (right/left) or bilateral sensorineural hearing loss.
- Trial name
- NCT02082431
- Where
- 12 sites in United States
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Pediatrix
Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth
Natural History Study for Charcot Marie Tooth Disease
The goal of this Natural History Study for Charcot-Marie-Tooth is to acquire, record, and analyze patient-reported data and associated genetic reports, Electronic Health Records (EHRs) and clinical notes to identify the burden…
- Conditions
- Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth, Charcot-Marie-Tooth Disease, Type IA, Charcot-Marie-Tooth Disease Type 2A
- Trial name
- NCT05902351
- Where
- United States
- Volunteers
- 10,000 people
- Sponsor
- Hereditary Neuropathy Foundation
Retinitis Pigmentosa (RP), Usher Syndrome
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.
- Conditions
- Retinitis Pigmentosa (RP), Usher Syndrome, Cone Rod Dystrophy
- Trial name
- TES-STEP (NCT07548944)
- Testing
- Transcorneal Electrical Stimulation using the OkuStim System
- Where
- Germany
- Volunteers
- 30 people
- Sponsor
- Okuvision GmbH
NF2-related Schwannomatosis
Assessment of Patient Experience With Auto-Captioning Glasses in NF2-Related-Schwannomatosis
The goal of this clinical trial is to investigate the usability of auto-captioning glasses for adults diagnosed with NF2-related schwannomatosis and loss of hearing.
- Trial name
- NCT07420751
- Testing
- Auto-captioning Glasses
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- Massachusetts General Hospital
CHARGE Syndrome
A Strategic Approach to Safe and Effective Cochlear Implantation in Patients With CHARGE Syndrome
This retrospective observational study aims to evaluate cochlear anatomy, surgical challenges, and strategic approaches for safe cochlear implantation in pediatric patients with CHARGE syndrome.
- Trial name
- NCT07320482
- Testing
- No intervention (observational study)
- Where
- South Korea
- Volunteers
- 12 people
- Sponsor
- Seoul National University Bundang Hospital
Retinitis Pigmentosa (RP), Usher Syndrome
A 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.
- Trial name
- SLORP Preserve (NCT07710196)
- Testing
- NPI-001
- Where
- United States
- Volunteers
- 80 people
- Sponsor
- Nacuity Pharmaceuticals, Inc.
Hearing Impairment
A Pilot Study to Evaluate Patient Tolerance and Nursing Ease-of-Use of a Novel Hearing Protection Device
Before they are born, babies are protected from hearing very loud noises by their mother's bodies. After delivery, they are exposed to many loud noises that are potentially harmful.
- Trial name
- NEATCAP (NCT02744066)
- Testing
- NEATCAP
- Where
- United States
- Volunteers
- 55 people
- Sponsor
- Michael Balsan, MD
Retinitis Pigmentosa Syndromic, Congenital Deafness
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.
- Conditions
- Retinitis Pigmentosa Syndromic, Congenital Deafness, Usher Syndrome, Retinitis Pigmentosa and Deafness
- Trial name
- NCT00106743
- Where
- 2 sites in United States
- Volunteers
- 249 people
- Sponsor
- National Eye Institute (NEI)
Usher Syndrome
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…
- Trial name
- EURUSH (NCT01954953)
- Where
- 6 sites in France, Germany and 2 more
- Volunteers
- 100 people
- Sponsor
- Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
Neurofibromatosis Type 1 (NF1), NF2-related Schwannomatosis
How Can the Experience of Hospital Outpatient Departments be Improved?
This project aims to improve outpatient departments by working with patients and staff to make these spaces more inclusive for people with sensory challenges (it focuses on people with nerve tumour conditions as they are more…
- Trial name
- NCT07818213
- Testing
- Qualitative data collection activities
- Where
- United Kingdom
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- King's College London
Mitochondrial Disorders, Mitochondrial Genetic Disorders
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.
- Conditions
- Mitochondrial Disorders, Mitochondrial Genetic Disorders, Mitochondrial Diseases, Disorder of Mitochondrial Respiratory Chain Complexes
- Trial name
- NAMDC (NCT01694940)
- Where
- 17 sites in United States, Canada
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Columbia University
Cystic Fibrosis, Sensorineural Hearing Loss
Evaluation of the High Frequency Digit Triplet Test in Cystic Fibrosis
The purpose of this study is to find out whether the High Frequency Digit Triplet test can be used to screen patients with cystic fibrosis for hearing loss in conditions of health and pulmonary exacerbation.
- Trial name
- 3D-CF (NCT02252601)
- Testing
- HFDT test, Pure tone Audiogram
- Where
- 3 sites in United Kingdom
- Volunteers
- 388 people, healthy volunteers welcome
- Sponsor
- University of Nottingham
Diabetes Mellitus, Type 1, Monogenic Diabetes
Monogenic Diabetes Misdiagnosed as Type 1
The study has two aims: 1. To (1a) determine the frequency of monogenic diabetes misdiagnosed as type 1 diabetes (T1D) and (2) to define an algorithm for case selection. 2.
- Conditions
- Diabetes Mellitus, Type 1, Monogenic Diabetes, Neonatal Diabetes, Maturity-onset Diabetes in the Young (MODY)
- Trial name
- ADDAM (NCT03988764)
- Testing
- None AHT
- Where
- Canada
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
Gestational Diabetes, Pregestational Diabetes
Maternal Diabetes in Newborns With Hearing Loss
This study aims to investigate the presence and characteristics of maternal diabetes as a risk factor in newborns with hearing loss. Hearing loss is one of the most common congenital anomalies among newborns.
- Conditions
- Gestational Diabetes, Pregestational Diabetes, Hearing Loss
- Trial name
- GDM (NCT05152589)
- Testing
- hearing test
- Where
- Turkey (Türkiye)
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Ankara City Hospital Bilkent
Retinal Degeneration, Retinitis Pigmentosa
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…
- Conditions
- Retinal Degeneration, Retinitis Pigmentosa, Eye Diseases, Hereditary
- Trial name
- RUSH1F (NCT04765345)
- Where
- 10 sites in United States, Canada and 6 more
- Volunteers
- 44 people
- Sponsor
- Jaeb Center for Health Research
Craniosynostosis, Muenke Syndrome
Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)
This study will explore the range and type of medical and developmental problems in patients with Muenke syndrome, a condition that results when one or more of the suture between the bones of the skull close before birth.
- Trial name
- NCT00106977
- Where
- 2 sites in United States
- Volunteers
- 137 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Retinitis Pigmentosa, Usher Syndrome Type 2
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.
- Conditions
- Retinitis Pigmentosa, Usher Syndrome Type 2, Deaf Blind, Retinal Disease
- Trial name
- Stellar (NCT03780257)
- Testing
- QR-421a
- Where
- 7 sites in United States, Canada and 1 more
- Volunteers
- 20 people
- Sponsor
- ProQR Therapeutics
Wolfram Syndrome
Tirzepatide Monotherapy in Patients With Wolfram Syndrome Type 1
Wolfram syndrome (WFS:OMIM 222300) is a group of inherited disorders that usually appear in childhood and cause diabetes, optic atrophy leading to loss of vision, deafness and often diabetes insipidus.
- Trial name
- NCT05659368
- Testing
- Tirzepatide
- Where
- Italy
- Volunteers
- 10 people
- Sponsor
- Ospedale San Raffaele
Usher Syndrome, Retinitis Pigmentosa
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.
- Trial name
- NCT01505062
- Testing
- SAR421869
- Where
- 2 sites in United States, France
- Volunteers
- 9 people
- Sponsor
- Sanofi