Clinical trials: Hearing and Vision Loss
Usher Syndromes
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…
- Trial name
- Light4Deaf (NCT04665726)
- Where
- 4 sites in France
- Volunteers
- 400 people
- Sponsor
- Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
Retinitis Pigmentosa, Usher Syndrome Type 2
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…
- Conditions
- Retinitis Pigmentosa, Usher Syndrome Type 2, Deaf Blind, Retinal Disease
- Trial name
- NCT05176717
- Testing
- QR-421a
- Where
- 3 sites in United States, United Kingdom
- Volunteers
- 5 people
- Sponsor
- Laboratoires Thea
Wolfram Syndrome, Diabetes Mellitus
A Clinical Trial of Dantrolene Sodium in Pediatric and Adult Patients With Wolfram Syndrome
Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing loss, and neurodegeneration.
- Conditions
- Wolfram Syndrome, Diabetes Mellitus, Optic Nerve Atrophy, Ataxia
- Trial name
- NCT02829268
- Testing
- dantrolene sodium
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- Washington University School of Medicine
Wolfram Syndrome 1, Optic Atrophies, Hereditary
Does Recessive Optic Atrophy Due to WFS1 Exist?
All patients with Wolfram syndrome and recessive optic atrophy due to a mutation of the WFS1 from a single Center were included in a retrospective study.
- Trial name
- NCT07336966
- Testing
- analyse study
- Volunteers
- 45 people
- Sponsor
- Hôpital Necker-Enfants Malades
Retinal Degeneration, Retinitis Pigmentosa
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…
- Trial name
- NCT00231010
- Where
- 6 sites in United States, China and 2 more
- Volunteers
- 3,549 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)
Retinitis Pigmentosa, Cone Dystrophy
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.
- Conditions
- Retinitis Pigmentosa, Cone Dystrophy, Usher Syndromes, Retina; Dystrophy
- Trial name
- NCT03990727
- Testing
- Retina Analysis-mosaic, Autofluorescence, OCT- 1 micra
- Where
- Mexico
- Volunteers
- 17,000 people, healthy volunteers welcome
- Sponsor
- MejoraVisionMD
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
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)
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
Wolfram Syndrome, Fecal Incontinence
Mechanisms of Fecal Incontinence in Wolfram Syndrome
In order to clarify the mechanism of fecal incontinence in in Wolfram syndrome and to characterize its risk factors, the examiner will reviewed the files of patients followed in a Reference Center for Rare Diseases in…
- Trial name
- NCT07313085
- Testing
- Retrospective case-control analysis
- Where
- France
- Volunteers
- 20 people
- Sponsor
- Hôpital Necker-Enfants Malades
Cerebral Palsy
Effects of Associated Impairments on Activity and Participation in Children With Cerebral Palsy
This study will investigate the effects of associated impairments on the activity levels and social participation of school-aged children with Cerebral Palsy (aged 6-12) and their impact on their families' quality of life and…
- Trial name
- NCT06944171
- Where
- Turkey (Türkiye)
- Volunteers
- 107 people
- Sponsor
- Hacettepe University
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)
Wolfram Syndrome
Efficacy Study of Daily Administration of VPA in Patients Affected by Wolfram Syndrome
Open label, phase II study non randomized single group assignment of 20 evaluable patients 13 years and older, over 37,5 kg body-weight, with sensorineural hearing loss of at least 20 dB at 8 kHz in high frequency average (HFA)…
- Trial name
- AUDIOWOLF (NCT04940572)
- Testing
- Depakine
- Where
- 2 sites in France, Spain
- Volunteers
- 23 people
- Sponsor
- Centre d'Etude des Cellules Souches
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
Hearing Loss, Conductive, Hearing Loss, Mixed
Evaluating the Safety of BONEBRIDGE Implants in Children Under Five Years Old: This Study Looks at Children Under Five Who Got BONEBRIDGE BCI 602 Implants. It Collects Information on Any Problems With the Device or the Surgery to See if it is Safe Within the First Year After the Operation.
This study, titled "The BONEBRIDGE in Children Under Five: Premarket Clinical Investigation" (Study ID 2023BB006), looks at kids under five who have received the BONEBRIDGE BCI 602 hearing implant.
- Conditions
- Hearing Loss, Conductive, Hearing Loss, Mixed, Children Under 5 Years
- Trial name
- 2023BB006 (NCT06634784)
- Testing
- Bone Conduction Implant (BCI)
- Where
- 2 sites in Germany
- Volunteers
- 9 people
- Sponsor
- MED-EL Elektromedizinische Geräte GmbH
Wolfram Syndrome
I-Tracking Neurodegeneration in Early Wolfram Syndrome
Wolfram syndrome (WFS; OMIM #222300) is a rare autosomal recessive disease clinically defined in 1938 as the combination of childhood-onset insulin dependent diabetes, optic nerve atrophy, diabetes insipidus and deafness.
- Trial name
- I-TRACK (NCT03951298)
- Where
- United States
- Volunteers
- 128 people
- Sponsor
- Washington University School of Medicine
Wolfram Syndrome, Diabetes Mellitus
Wolfram Syndrome and WFS1-related Disorders International Registry and Clinical Study
In this study, the investigators hypothesize that studying monogenic variants with strong effect associated with severe insulin deficiency of Wolfram syndrome will provide important insights into the more complex type 1 and type…
- Conditions
- Wolfram Syndrome, Diabetes Mellitus, Optic Nerve Atrophy, Deafness
- Trial name
- NCT02841553
- Where
- United States
- Volunteers
- 5,000 people
- Sponsor
- Washington University School of Medicine
CHARGE Syndrome
Neurovisual Function in CHARGE Syndrome
The rationale of the study is to analyze visual function and correlate them with adaptive functions in patients with CHARGE syndrome in order to identify a pattern of specific indicators to enable better patient care
- Trial name
- NCT05764980
- Testing
- visual function evaluation
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Type 1 Diabetes, Diabetes Insipidus
Tracking Neurodegeneration in Early Wolfram Syndrome
The goal of this study is to determine the pattern of early neurodegenerative changes in WFS (Wolfram Syndrome). The investigator will perform cross-sectional and longitudinal assessments of youth with WFS, targeting sensitive…
- Conditions
- Type 1 Diabetes, Diabetes Insipidus, Diabetes Mellitus, Wolfram Syndrome
- Trial name
- TRACK (NCT02455414)
- Where
- United States
- Volunteers
- 101 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Neck Pain, Unilateral Blindness
Unilateral Blindness/ Unilateral Deafness-relation to Neck Pain
Neck pain is a common complaint in the general population affecting 10-15% of the general population. females more than men. Known risk factors are: Trauma, Repetitive lifting of heavy objects at work, driving vibrating vehicles…
- Conditions
- Neck Pain, Unilateral Blindness, Unilateral Deafness
- Trial name
- NCT00589407
- Where
- Israel
- Volunteers
- 300 people
- Sponsor
- Hadassah Medical Organization