Clinical trials: Neonatal Hearing Loss, open to volunteers
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
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
Retinal Disease, Age-Related Macular Degeneration
Stem Cell Ophthalmology Treatment Study II
This study will evaluate the use of autologous bone marrow derived stem cells (BMSC) for the treatment of retinal and optic nerve damage or disease.
- Conditions
- Retinal Disease, Age-Related Macular Degeneration, Retinitis Pigmentosa, Stargardt Disease
- Trial name
- SCOTS2 (NCT03011541)
- Testing
- Arm 1
- Where
- 4 sites in United States, Austria and 1 more
- Volunteers
- 500 people
- Sponsor
- MD Stem Cells
MELAS Syndrome, Lebers Hereditory Optic Neuropathy With Extra Ocular Symptoms (LHON-Plus)
A Basket Clinical Study to Assess Glycerol Tributyrate in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like Episodes (MELAS) or Leber's Hereditary Optic Neuropathy-Plus (LHON-Plus)
This is a parallel arm non-randomized dose-escalation, open-label basket exploratory phase 1 clinical trial where Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes (MELAS) and Leber's hereditary optic…
- Trial name
- NCT06792500
- Testing
- Glycerol Tributyrate
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- George Washington University
Retinitis Pigmentosa (RP), Usher Syndrome
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
- NCT07290530
- Testing
- N-acetylcysteine amide
- Volunteers
- 80 people
- Sponsor
- Nacuity Pharmaceuticals, Inc.
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
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
Osteogenesis Imperfecta
Effects of Bisphosphonates on OI-Related Hearing Loss
Osteogenesis Imperfecta-related hearing loss usually occurs in individuals with mild (type I) OI and is much earlier in onset than age-related hearing loss, with the majority of individuals experiencing some minor hearing loss in…
- Trial name
- NCT04152551
- Testing
- Risedronate Oral Tablet
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Hospital for Special Surgery, New York
Usher Syndrome, Type 1B
Study of Subretinally Injected AAVB-081 in Patients With Usher Syndrome Type IB (USH1B) Retinitis Pigmentosa
The purpose of the 081-101 study is to evaluate the safety and tolerability of a single subretinal injection of AAVB-081 in USH1B patients with retinitis pigmentosa due to a mutation in the MYO7A gene.
- Trial name
- NCT06591793
- Testing
- AAVB-081
- Where
- 3 sites in Italy, United Kingdom
- Volunteers
- 15 people
- Sponsor
- AAVantgarde Bio Srl
Mitochondrial Diseases, Maternally Inherited Diabetes and Deafness (MIDD)
KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases
The KHENERFIN study aims to determine whether the study medicine, sonlicromanol, is able to reduce symptoms of fatigue and the impact of fatigue on daily life, and whether sonlicromanol is able to improve physical abilities of…
- Conditions
- Mitochondrial Diseases, Maternally Inherited Diabetes and Deafness (MIDD), Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS), Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation
- Trial name
- KH176-301 (NCT06451757)
- Testing
- Sonlicromanol
- Where
- 10 sites in United States, Denmark and 5 more
- Volunteers
- 220 people
- Sponsor
- Khondrion BV
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
Congenital Cytomegalovirus, Cytomegalovirus Infections
Protein Biomarkers and Host RNA Expression Profiles in Congenital Cytomegalovirus Infection
This study seeks to identify and test host protein biomarkers and RNA expression profiles in dried blood spot samples as novel diagnostic markers of congenital cytomegalovirus sequelae and to improve the understanding of the…
- Conditions
- Congenital Cytomegalovirus, Cytomegalovirus Infections, Neonatal Infection, Sensorineural Hearing Loss
- Trial name
- NCT07635368
- Where
- 2 sites in Denmark
- Volunteers
- 630 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Hearing Loss, Genetic Disease
Auditory Restoration and Outcomes After Gene Therapy and Cochlear Implantation: a PRospective Cohort Analysis (AURORA)
This cohort study aims to explore the trends and differences in multidimensional perceptual levels of patients after cochlear implants or gene therapy, as well as to comprehensively assess the efficacy of gene therapy for…
- Conditions
- Hearing Loss, Genetic Disease, Speech Perception
- Trial name
- NCT06237790
- Where
- 6 sites in China
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Eye & ENT Hospital of Fudan University
Prader-Willi Syndrome, PWS-like Syndrome
GROWing Up With Rare GENEtic Syndromes
Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome.
- Conditions
- Prader-Willi Syndrome, PWS-like Syndrome, Silver Russel Syndrome, Congenital Hypopituitarism
- Trial name
- GROW UR GENES (NCT04463316)
- Testing
- Retrospective file studies
- Where
- Netherlands
- Volunteers
- 600 people
- Sponsor
- dr. Laura C. G. de Graaff-Herder
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, 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
Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis
National Registry of Rare Kidney Diseases
The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research.
- Conditions
- Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis, AHL Amyloidosis, AL Amyloidosis
- Trial name
- RaDaR (NCT06065852)
- Where
- United Kingdom
- Volunteers
- 35,000 people
- Sponsor
- UK Kidney Association
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