Clinical trials: Retinitis Pigmentosa Syndrome
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
Diabetic Retinopathy, Macular Degeneration
Advancing Understanding of Transportation Options
This Stage II randomized, controlled, longitudinal trial seeks to assess the acceptability, feasibility, and effects of a driving decision aid use among geriatric patients and providers.
- Conditions
- Diabetic Retinopathy, Macular Degeneration, Glaucoma, Retinitis Pigmentosa
- Trial name
- AUTO (NCT04141891)
- Testing
- Driving Decision Aid, Older Drivers Website
- Where
- 3 sites in United States
- Volunteers
- 529 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
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
Retinitis Pigmentosa, Maculopathy, Age Related
High Resolution, High-speed Multimodal Ophthalmic Imaging
Knowledge of the pathogenesis of ocular conditions, a leading cause of blindness, has benefited greatly from recent advances in ophthalmic imaging.
- Conditions
- Retinitis Pigmentosa, Maculopathy, Age Related, Macular Dystrophy, Macular Edema
- Trial name
- IMA-MODE (NCT04129021)
- Testing
- High-resolution retinal imaging through adaptive optics, High-resolution retinal imaging through holographic systems
- Where
- France
- Volunteers
- 1,200 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
Alström Syndrome
Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome
Phase 2, open-label, single-arm, multi-centre study evaluating the long term safety and tolerability of PBI-4050 in subjects with Alström Syndrome who have completed a preceding ProMetic-sponsored Alström Syndrome study with…
- Trial name
- NCT03184584
- Testing
- PBI-4050
- Where
- United Kingdom
- Volunteers
- 10 people
- Sponsor
- Liminal BioSciences Ltd.
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
Usher Syndrome, Type 2A, Retinitis Pigmentosa 39
Rate of Progression in USH2A-related Retinal Degeneration
The overall goal of this project funded by the Foundation Fighting Blindness is to characterize the natural history of disease progression in patients with USH2A related retinal degeneration associated with congenital hearing…
- Trial name
- RUSH2A (NCT03146078)
- Where
- 14 sites in United States, Canada and 4 more
- Volunteers
- 127 people
- Sponsor
- Jaeb Center for Health Research
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
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
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.
Retinitis Pigmentosa, Usher Syndrome Type 2
Study to Evaluate the Efficacy Safety and Tolerability of Ultevursen in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene (Sirius)
The purpose of this study is to evaluate the efficacy safety and tolerability of ultevursen 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
- NCT05158296
- Testing
- Ultevursen
- Where
- 15 sites in United States, Germany and 2 more
- Volunteers
- 7 people
- Sponsor
- Laboratoires Thea
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
Mitochondrial Myopathies, Mitochondrial DNA Mutation
Genomic Profiling of Mitochondrial Disease - Imaging Analysis for Precise Mitochondrial Medicine
This study is an observational longitudinal study involving the use of MRIs and video recordings taken at home of patients completing basic tasks.
- Conditions
- Mitochondrial Myopathies, Mitochondrial DNA Mutation, Mitochondrial Diseases, Chronic Progressive External Ophthalmoplegia With Myopathy
- Trial name
- NCT05012358
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Mayo Clinic
Bardet-Biedl Syndrome
Genetics and Clinical Characteristics of Bardet-Biedl Syndrome
This study will evaluate patients with a rare inherited condition called Bardet-Biedl syndrome . The purpose of the study is to learn more about the genetics and clinical characteristics of this disorder.
- Trial name
- NCT00078091
- Where
- United States
- Volunteers
- 194 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Bardet-Biedl Syndrome
Characterizing the Genotype and Phenotype in Adults With Bardet-Biedl Syndrome
Bardet-Biedl syndrome (BBS; OMIN #209900) is a rare genetic disorder characterized by six core features: rod-cone dystrophy (retinitis pigmentosa), polydactyly, obesity, genital anomalies, renal anomalies, and learning…
- Trial name
- NCT05400278
- Testing
- No intervention
- Where
- Norway
- Volunteers
- 30 people
- Sponsor
- Oslo University Hospital
Usher Syndrome Type 3
BF844 Safety and Pharmacokinetic Study in Healthy Volunteers
First-in-Human Phase-1 Clinical Trial to Assess Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Food Effect of Single and Multiple Ascending Doses of BF844 when Administered Orally to Healthy Adult Participants.
- Trial name
- NCT06592131
- Testing
- BF844
- Where
- Australia
- Volunteers
- 76 people, healthy volunteers welcome
- Sponsor
- EyeXCel Pty. Ltd.
Obesity, Childhood, Hyperphagia
Early Genetic Identification of Obesity
TITLE: Whole genetic approach in Early Genetic Identification of Obesity (WEGIO) DESIGN: Multicenter epidemiological study STUDY POPULATION: Participants at risk for a syndromic or a monogenic genetic obesity, incl.
- Conditions
- Obesity, Childhood, Hyperphagia, Retinopathy, Syndactyly
- Trial name
- WEGIO (NCT06239064)
- Testing
- Genetic testing via blood collection
- Where
- 37 sites in Germany
- Volunteers
- 1,000 people
- Sponsor
- Rolfs Consulting und Verwaltungs-GmbH (RCV)
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
Bardet Biedl Syndrome (BBS)
Bardet Beidle Syndrome in a Syrian Adolescent : a Rare Case Report
Bardet-Biedl Syndrome (BBS) is an uncommon genetic disorder that affects multiple organs. and presents with a variety of characteristics. It is caused by a dysfunction in the cilia.
- Trial name
- AlBaathU (NCT06615011)
- Volunteers
- 100 people
- Sponsor
- Al Baath University
Ciliopathies, Nephronophthisis
Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)
The purpose of the C'IL-LICO RICM study is to develop innovative and transformative diagnostic and prognostic for patients suffering from ciliopathies leading to renal failure.
- Conditions
- Ciliopathies, Nephronophthisis, Senior-Loken Syndrome, Joubert Syndrome
- Trial name
- CILLICORIRCM (NCT04874909)
- Testing
- Blood sample, Urine sample
- Where
- France
- Volunteers
- 240 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris