Clinical trials: Retinitis Pigmentosa Syndrome
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)
Mitochondrial Diseases, Mitochondrial Respiratory Chain Deficiencies
A Phase Ia/Ib, SAD and MAD Study of of KL1333 in Healthy Subjects and Patients With Primary Mitochondrial Disease
This will be a double blind, randomised, placebo controlled, single and multiple oral dose study conducted in 3 parts: Part A, Part B and Part C.
- Conditions
- Mitochondrial Diseases, Mitochondrial Respiratory Chain Deficiencies, MELAS Syndrome, Mitochondrial Myopathies
- Trial name
- NCT03888716
- Testing
- KL1333
- Where
- 2 sites in United Kingdom
- Volunteers
- 72 people, healthy volunteers welcome
- Sponsor
- Abliva AB
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)
Neurodegenerative Disorders
Development of IPS from Donated Somatic Cells of Patients with Neurological Diseases
Human fibroblasts and possibly other human somatic cells may be reprogrammed into induced pluripotent stem (iPS) cells by the forced expression of transcription factors (1-5).
- Trial name
- NCT00874783
- Where
- Israel
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Hadassah Medical Organization
Retinitis Pigmentosa, Usher Syndrome Type 2
Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa
This clinical trial is a single-site, 30 patient study for participants who have early stage retinitis pigmentosa, or Usher syndrome (type 2 or 3). Funding Source - FDA OOPD and Foundation Fighting Blindness.
- Conditions
- Retinitis Pigmentosa, Usher Syndrome Type 2, Usher Syndrome Type 3
- Trial name
- NCT01530659
- Testing
- NT-501
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- Neurotech Pharmaceuticals
Usher Syndrome, Cochlear Implantation
Auditory Neural Function in Implanted Patients With Usher Syndrome
Usher syndrome (USH) causes extensive degeneration in the cochlear nerve (CN), especially in CN fibers innervating the base of the cochlea.
- Trial name
- NCT04906135
- Testing
- Experimental manipulation of stimulation parameters
- Where
- 4 sites in United States
- Volunteers
- 29 people
- Sponsor
- Ohio State University
Usher Syndromes
Safety and Efficacy of NPI-001 Tablets for RP Associated With Usher Syndrome
This study will examine the safety and efficacy of NPI-001 Tablets as compared to placebo for 24 months in subjects with vision loss due to RP associated with Usher syndrome.
- Trial name
- SLO RP (NCT04355689)
- Testing
- NPI-001
- Where
- 4 sites in Australia
- Volunteers
- 49 people
- Sponsor
- Nacuity Pharmaceuticals, Inc.
Retinitis Pigmentosa (RP), Usher Syndrome Type 2
Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
The purpose of this Phase 2b study is to evaluate the 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 (RP), Usher Syndrome Type 2, Deaf Blind, Retinal Disease
- Trial name
- LUNA (NCT06627179)
- Testing
- Intravitreal Injection of Ultevursen, No intervention, will not receive any active study intervention
- Where
- 26 sites in United States, Belgium and 8 more
- Volunteers
- 81 people
- Sponsor
- Laboratoires Thea
Bardet-Biedl Syndrome, Orphan Diseases
Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults
This study is based on the study of the natural history of a rare disorder: the Bardet-Biedl syndrome (BBS) (which is associated with retinitis pigmentosa, polydactyly, cognitive impairment, obesity, and kidney failure).
- Trial name
- NCT00213811
- Testing
- clinical, biological, and radiological
- Where
- France
- Volunteers
- 40 people
- Sponsor
- University Hospital, Strasbourg, France
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
Bardet-Biedl Syndrome, POMC Deficiency Obesity
Setmelanotide in Pediatric Participants With Rare Genetic Diseases of Obesity
This is a phase 3 open-label, clinical study to evaluate the efficacy, safety and tolerability of setmelanotide over 1 year of treatment, in pediatric participants aged 2 to <6 years with obesity due to either biallelic variants…
- Conditions
- Bardet-Biedl Syndrome, POMC Deficiency Obesity, PCSK1 Deficiency Obesity, LEPR Deficiency Obesity
- Trial name
- NCT04966741
- Testing
- Setmelanotide
- Where
- 6 sites in United States, Australia and 2 more
- Volunteers
- 12 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Usher Syndrome, Type 2A, Retinitis Pigmentosa
Characterizing Rate of Progression in USHer Syndrome (CRUSH) Study
Mutations in USH2A give rise to two phenotypes: Usher syndrome type 2a (USH2A) and nonsyndromic RP (USH2A associated nsRP). Usher syndrome is the most common form of congenital deafblindness.
- Conditions
- Usher Syndrome, Type 2A, Retinitis Pigmentosa, USH2A
- Trial name
- CRUSH (NCT04820244)
- Testing
- No intervention
- Where
- Netherlands
- Volunteers
- 36 people
- Sponsor
- Radboud University Medical Center
Bardet-Biedl Syndrome, POMC Deficiency
Phase 3 Crossover Trial of Two Formulations of Setmelanotide in Participants With Specific Gene Defects in the MC4R Pathway
A trial to compare the weekly and daily formulations of setmelanotide in participants with genetic defects in the melanocortin-4 receptor pathway.
- Trial name
- NCT05194124
- Testing
- Setmelanotide 2 mg, Setmelanotide 2.5 mg, Setmelanotide 3 mg
- Where
- 7 sites in United States, Canada and 4 more
- Volunteers
- 19 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Bardet-Biedl Syndrome
Clinical Registry Investigating Bardet-Biedl Syndrome
Bardet-Biedl Syndrome (BBS) is a rare genetic disorder associated with a vast array of symptoms. The features of BBS are highly variable, even between siblings, making long-term follow-up and centralization of information vital…
- Trial name
- CRIBBS (NCT02329210)
- Where
- United States
- Volunteers
- 1,200 people
- Sponsor
- Marshfield Clinic Research Foundation
Bardet-Biedl Syndrome, Alström Syndrome
COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study
ALMS and BBS syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus.
- Trial name
- COBBALT (NCT04461444)
- Testing
- Skin biopsy
- Where
- France
- Volunteers
- 350 people
- Sponsor
- University Hospital, Strasbourg, France
Autosomal Dominant Retinitis Pigmentosa, Eye Diseases
A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene
This study evaluates the safety, tolerability and efficacy of QR-1123 injection in the eye (intravitreal; IVT) injections (one eye/unilateral) in subjects receiving a single dose or repeat doses.
- Conditions
- Autosomal Dominant Retinitis Pigmentosa, Eye Diseases, Eye Diseases, Hereditary, Retinal Dystrophies
- Trial name
- AURORA (NCT04123626)
- Testing
- QR-1123
- Where
- 5 sites in United States
- Volunteers
- 11 people
- Sponsor
- ProQR Therapeutics
Mitochondrial Diseases, Kearns-Sayre Syndrome
Global Registry and Natural History Study for Mitochondrial Disorders
The main goal of the project is provision of a global registry for mitochondrial disorders to harmonize previous national registries, enable world-wide participation and facilitate natural history studies, definition of outcome…
- Conditions
- Mitochondrial Diseases, Kearns-Sayre Syndrome, MIDD, SANDO
- Trial name
- GENOMIT (NCT05554835)
- Where
- 34 sites in Austria, Germany and 1 more
- Volunteers
- 6,000 people
- Sponsor
- LMU Klinikum
Alström Syndrome (ALMS)
Clinical Study of a Single Ciliopathy: Alström Syndrome
The aim of the study is to characterize the clinical manifestations of ALMS within the ciliopathies to prevent complications and determine preventive and therapeutic targets.
- Trial name
- NCT02890550
- Where
- 14 sites in France
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Eye Diseases Hereditary, Retinal Disease
Inherited Retinal Degenerative Disease Registry
The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation.
- Conditions
- Eye Diseases Hereditary, Retinal Disease, Achromatopsia, Bardet-Biedl Syndrome
- Trial name
- MRTR (NCT02435940)
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Foundation Fighting Blindness
Usher Syndrome, Congenital Deafness
Clinical and Genetic Testing of Patients With Usher Syndrome
This study is aimed to characterize Russian population of Usher patients.
- Conditions
- Usher Syndrome, Congenital Deafness, Retinitis Pigmentosa
- Trial name
- NCT03319524
- Where
- 6 sites in Russia
- Volunteers
- 28 people
- Sponsor
- Sensor Technology for Deafblind