Clinical trials: Deaf Blind
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Palliative Care Needs of Children With Rare Diseases and Their Families
The palliative care needs of family caregivers of children with rare diseases and their children are largely unmet, including the need for support to prepare for future medical decision making.
- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome
- Trial name
- FACE-Rare (NCT06938542)
- Testing
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Where
- United States
- Volunteers
- 480 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Retinitis Pigmentosa (RP), Usher Syndrome Type 2
Study to Evaluate the Long-Term Safety of Ultevursen in Participants With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
The purpose of this Phase 2 Open-label study is to evaluate the long-term safety and tolerability of Ultevursen administered via intravitreal injection (IVT) in participants with Retinitis Pigmentosa due to mutations in exon 13…
- Conditions
- Retinitis Pigmentosa (RP), Usher Syndrome Type 2, Deaf Blind, Retinal Disease
- Trial name
- CAPELLA (NCT07796646)
- Testing
- No intervention, will not receive any active study intervention, Intravitreal Injection of Ultevursen
- Volunteers
- 81 people
- Sponsor
- Laboratoires Thea
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
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
Usher Syndrome, Retinitis Pigmentosa
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.
- Trial name
- NCT00004345
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
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
Retinitis Pigmentosa, Usher Syndromes
Prospective Open Clinical and Genetic Study of Patients With Retinitis Pigmentosa
This study is aimed to characterize Russian population of Retinitis Pigmentosa
- Trial name
- RU-RP (NCT03901391)
- Testing
- Whole Exome Sequencing
- Where
- 2 sites in Russia
- Volunteers
- 130 people
- Sponsor
- Sensor Technology for Deafblind
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
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)
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
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
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)
Usher Syndrome
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.
- Trial name
- MYO7A (NCT07278843)
- Testing
- Vision tests, Retinal imaging, Questionnaires
- Where
- France
- Volunteers
- 60 people
- Sponsor
- Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
Wolfram Syndrome
AMX0035 in Adult Patients With Wolfram Syndrome
This study is an open label Phase II study to evaluate the safety and efficacy of AMX0035 in adults with Wolfram syndrome.
- Trial name
- NCT05676034
- Testing
- AMX0035
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Amylyx Pharmaceuticals Inc.
Retinitis Pigmentosa, Usher Syndrome Type 2
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…
- Trial name
- HELIA (NCT05085964)
- Testing
- RNA antisense oligonucleotide for intravitreal injection
- Where
- 7 sites in United States, Canada and 1 more
- Volunteers
- 21 people
- Sponsor
- Laboratoires Thea
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
Hearing Disorder
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.
- Trial name
- NCT00341874
- Where
- Pakistan
- Volunteers
- 18,009 people
- Sponsor
- National Institute on Deafness and Other Communication Disorders (NIDCD)
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 and Safety Trial of Sodium Valproate, in Paediatric and Adult Patients With Wolfram Syndrome
This trial aims to investigate the efficacy, safety and tolerability of sodium valproate in the treatment of patients with Wolfram syndrome.
- Trial name
- NCT03717909
- Testing
- Sodium Valproate 200Mg E/C Tablet
- Where
- 6 sites in France, Poland and 2 more
- Volunteers
- 63 people
- Sponsor
- University of Birmingham