Clinical trials: Congenital Hearing Loss
Usher's Syndrome
A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of SAR421869 in Patients With Usher Syndrome Type 1B
Primary Objective: To evaluate the long-term safety and tolerability of SAR421869 in patients with Usher syndrome Type 1B Secondary Objective: To assess long-term safety and biological activity of SAR421869
- Trial name
- NCT02065011
- Testing
- Blood draw for the laboratory assessment
- Where
- 2 sites in United States, France
- Volunteers
- 9 people
- Sponsor
- Sanofi
Alport Syndrome
Alport Syndrome Treatments and Outcomes Registry
ASTOR's primary purpose is to enroll families and patients with a history of Alport syndrome in a central registry. The information we gather will be used as a basis for studies designed to test potential treatments for Alport…
- Trial name
- ASTOR (NCT00481130)
- Where
- United States
- Volunteers
- 655 people
- Sponsor
- University of Minnesota
MELAS Syndrome, Noninsulin-dependent Diabetes Mellitus With Deafness
Mitochondrial nt3243 A>G Mutation in Taiwan
Mitochondrial diseases are multisystem disorders that present with a wide range of clinical manifestations. Mitochondrial DNA nt3243A>G mutation is one of the most common mutations seen in mitochondrial diseases.
- Trial name
- NCT02114554
- Where
- Taiwan
- Volunteers
- 40 people
- Sponsor
- National Taiwan University Hospital
Osteogenesis Imperfecta
Audio-vestibular Evaluation of Children and Young Adults With Osteogenesis Imperfecta
The aim is to determine whether vestibular deficits are present in OI, then to establish whether a correlation exists between genetic type, severity of OI and audiovestibular phenotype.
- Trial name
- AVOI (NCT05419960)
- Testing
- Vestibular Assessment, Petrous bone Computed Tomography (CT), Magnetic Resonance Imaging (MRI)
- Where
- France
- Volunteers
- 44 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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
Congenital CMV Infection, Sensorineural Hearing Loss
Long-Term Outcomes of Children With Congenital CMV in New York State
PROACTIVE NYS is a long-term follow-up study of all infants who test positive for congenital Cytomegalovirus infection (CMV) throughout New York State on the Newborn Screen.
- Trial name
- PROACTIVE NYS (NCT06226558)
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Stony Brook University
Congenital Hypothyroidism, Hearing Loss
The Prevalence of Hearing Loss Among Children With Congenital Hypothyroidism
Congenital hypothyroidism (CH) occurs in 1:4000 live births. Neurological disturbances like speech delay, motor delay and lower IQ were reported in children with CH.
- Trial name
- NCT01223638
- Testing
- Audiometry
- Where
- Israel
- Volunteers
- healthy volunteers welcome
- Sponsor
- HaEmek Medical Center, Israel
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
Hearing Loss, Cytomegalovirus
The Benefits Feasibility and Acceptability of Extended Screening Testing in Newborn Babies Who Are Referred for Further Hearing Assessment
This study will look at the feasibility and acceptability of testing newborn babies who are referred after their newborn hearing screen for an infection called congenital Cytomegalovirus (cCMV).
- Trial name
- BEST (NCT01162330)
- Testing
- Screening urine and saliva tests for congenital Cytomegalovirus
- Where
- United Kingdom
- Volunteers
- 411 people
- Sponsor
- Newcastle-upon-Tyne Hospitals NHS Trust
Vision and Hearing Loss, Vision Impairment
SENSE-Brain Health Pro for Older Adults With Sensory Loss
The goal of this study is to learn about the outcomes, usability, and accessibility of the online Brain Health Pro program for older adults with hearing difficulties, vision difficulties, or both.
- Conditions
- Vision and Hearing Loss, Vision Impairment, Hearing Impairment, Vision Difficulty
- Trial name
- SENSE-BHPro (NCT07856888)
- Testing
- Brain Health Pro
- Where
- Canada
- Volunteers
- 300 people
- Sponsor
- Université de Montréal
Mitochondrial Diseases, Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation
The KHENEREXT Study
This is an open-label, multi-centre study in subjects with a genetically confirmed mitochondrial deoxyribonucleic acid (DNA) transfer ribonucleic acid (tRNA)Leu(UUR) m.3243A>G mutation who completed study KH176-202.
- Conditions
- Mitochondrial Diseases, Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation, Maternally Inherited Diabetes and Deafness (MIDD), Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke Like Episodes (MELAS)
- Trial name
- NCT04604548
- Testing
- Oral administration of 100 mg KH176 twice daily
- Where
- 4 sites in Denmark, Germany and 2 more
- Volunteers
- 11 people
- Sponsor
- Khondrion BV
Ototoxicity
SPI-1005 for Prevention and Treatment of Tobramycin Induced Ototoxicity
The primary objective of this study is to determine the safety and efficacy of SPI-1005 treatment in CF patients with active pulmonary exacerbation that are receiving an IV course of tobramycin, determined by comparing hearing…
- Trial name
- NCT02819856
- Testing
- SPI-1005 Ebselen 200mg Capsule x1, SPI-1005 Ebselen 200mg Capsule x2, SPI-1005 Ebselen 200mg Capsule x3
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- Sound Pharmaceuticals, Incorporated
Metabolism, Inborn Errors, Hearing Loss
North Carolina Newborn Exome Sequencing for Universal Screening
The NC NEXUS research study is exploring the utility of next generation sequencing in newborn screening and parental decision making.
- Conditions
- Metabolism, Inborn Errors, Hearing Loss, Hereditary Disease
- Trial name
- NC_NEXUS (NCT02826694)
- Testing
- Well infant, whole exome sequencing, Diagnosed, whole exome sequencing
- Where
- United States
- Volunteers
- 106 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Rare Fetal Genetic Diseases, Congenital Malformation
Characterization and Contribution of Genome-wide DNA Methylation (DNA Methylation Episignatures) in Rare Diseases With Prenatal Onset
It is necessary to define reference DNA Methylation Episignatures from fetal DNA. The hypotheses are: It is possible to define reference DNA Methylation Episignatures from fetal DNA extracted from amniotic fluid or frozen tissues…
- Trial name
- FOETEPISIGN (NCT06475651)
- Testing
- Methylation analysis
- Where
- France
- Volunteers
- 63 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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.
Cmv Congenital, CMV
Randomized Controlled Trial of Valganciclovir for Cytomegalovirus Infected Hearing Impaired Infants
The overall goal of this study is to determine the clinical benefit and safety of antiviral therapy for asymptomatic congenital cytomegalovirus (cCMV) infected hearing-impaired infants.
- Conditions
- Cmv Congenital, CMV, Congenital Cmv, SNHL
- Trial name
- ValEAR (NCT03107871)
- Testing
- Valganciclovir, Simple Syrup
- Where
- 30 sites in United States
- Volunteers
- 10 people
- Sponsor
- Albert Park
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
Congenital Hearing Loss Secondary to Biallelic Mutations in the Otoferlin Gene (OTOF), Biallelic Mutations in the Gap Junction Beta 2 (GJB2) Gene
A Natural History Study in Pediatric Participants With Hearing Loss Due to OTOF, GJB2, or GJB2/GJB6 Mutations
This is an observational study to examine the characteristics of gene-related hearing loss in pediatric participants with biallelic otoferlin (OTOF) Mutations, Gap Junction Beta 2 (GJB2) Mutations, or Digenic GJB2/Gap Junction…
- Conditions
- Congenital Hearing Loss Secondary to Biallelic Mutations in the Otoferlin Gene (OTOF), Biallelic Mutations in the Gap Junction Beta 2 (GJB2) Gene, Digenic Mutations in GJB2/Gap Junction Beta 6 (GJB6) Genes
- Trial name
- ENSEMBLE (NCT06019481)
- Where
- 2 sites in United States
- Sponsor
- Regeneron Pharmaceuticals
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
Congenital Sensorineural Hearing Loss
Analysis of Risk Factors of Neurodevelopmental Disorder in Deaf Infants Under Ten Months of Age.
Among risk factors of neurodevelopmental disorder is congenital hearing loss. However, congenital deafness is neither necessary nor sufficient for the occurrence of warning signs of neurodevelopmental disorder.
- Trial name
- EnTNDre (NCT05423548)
- Where
- France
- Volunteers
- 22 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris