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Cone-Rod Dystrophy clinical trials

View clinical trials related to Cone-Rod Dystrophy.

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NCT ID: NCT06467344 Recruiting - Stargardt Disease Clinical Trials

Study to Evaluate ACDN-01 in ABCA4-related Retinopathy (STELLAR)

STELLAR
Start date: June 29, 2024
Phase: Phase 1/Phase 2
Study type: Interventional

This study is an open-label, single ascending dose clinical trial in participants who have ABCA4-related retinopathies. This is the first-in-human clinical trial in which ACDN-01 will be evaluated for safety, tolerability, and preliminary efficacy following a single subretinal injection of ACDN-01.

NCT ID: NCT06445322 Recruiting - Stargardt Disease Clinical Trials

Prescreening Study to Identify Potential Participants for ACDN-01 Clinical Trials

Start date: June 20, 2024
Phase:
Study type: Observational

This is an observational prescreening study. Individuals who are eligible for prescreening will undergo testing procedures that may be used to determine eligibility in ACDN-01 clinical trials.

NCT ID: NCT05355415 Recruiting - Clinical trials for Age-Related Macular Degeneration

Adaptive Optics Imaging of Outer Retinal Diseases

Start date: August 27, 2021
Phase:
Study type: Observational

The objective of the study is to collect adaptive optics (AO) retinal images from human subjects with outer retinal diseases (diseases of the outer retina including photoreceptor, retinal pigment epithelium (RPE), basement membrane or choroidal pathologies) to develop new diagnostic methods, biomarkers, and clinical endpoints.

NCT ID: NCT04658251 Recruiting - Clinical trials for Macular Degeneration

Study of New Mutations in Cone Disorders

INTROCONE
Start date: March 3, 2021
Phase:
Study type: Observational

High throughput sequencing gives the opportunity to improve the genetic diagnosis for patients suffering from retinal dystrophies and specially from cone disorders. However, a large number of mutations are identified, mostly in introns of the genes, and in silico analysis are not sufficient to assign the pathogenicity of these mutations, without which the diagnosis confirmation cannot be done. For that purpose, a functional analysis of intronic variants of unknown significance detected in patients, with minigene splice assays in parallel with the analysis of the effect of the variant on splicing directly in the cells of the patient, by analyzing the RNA from leucocytes, fibroblasts, lymphoblastoïd cells or precursor of photoreceptor cells, which is the only proof of pathogenicity for variants

NCT ID: NCT02670980 Completed - Clinical trials for Retinitis Pigmentosa

Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal Dystrophy

IRIS 2
Start date: January 2016
Phase: N/A
Study type: Interventional

This study evaluates the safety and effectiveness of the Intelligent Retinal Implants System (IRIS V2). Blind patient suffering from Retinitis Pigmentosa, Cone Rod Dystrophy, or Choroideremia are implanted with an Intelligent Retinal Implant Systeme. All subjects undergo ophthalmological examinations in predefined intervals after implantation. Ophthalmological examinations include funduscopy, slit lamp examination and OCT. All adverse events are recorded and analyzed. Efficacy is measured using functional vision and visual function tests before and after implantation as well as with the system on and system off.

NCT ID: NCT02435940 Recruiting - Clinical trials for Retinitis Pigmentosa

Inherited Retinal Degenerative Disease Registry

MRTR
Start date: June 2014
Phase:
Study type: Observational [Patient 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. It is a patient-initiated registry accessible via a secure on-line portal at www.MyRetinaTracker.org. Affected individuals who register are guided to create a profile that captures their perspective on their retinal disease and its progress; family history; genetic testing results; preventive measures; general health and interest in participation in research studies. The participants may also choose to ask their clinician to add clinical measurements and results at each clinical visit. Participants are urged to update the information regularly to create longitudinal records of their disease, from their own perspective, and their clinical progress. The overall goals of the Registry are: to better understand the diversity within the inherited retinal degenerative diseases; to understand the prevalence of the different diseases and gene variants; to assist in the establishment of genotype-phenotype relationships; to help understand the natural history of the diseases; to help accelerate research and development of clinical trials for treatments; and to provide a tool to investigators that can assist with recruitment for research studies and clinical trials.

NCT ID: NCT01864486 Completed - Clinical trials for Retinitis Pigmentosa

Restoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal Dystrophy

IRIS-1
Start date: April 2013
Phase: N/A
Study type: Interventional

This study evaluates the safety and effectiveness of the Intelligent Retinal Implants System (IRIS V1)

NCT ID: NCT01773278 Recruiting - Hearing Loss Clinical Trials

Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)

Start date: December 2008
Phase: Phase 2
Study type: Interventional

Patients with biochemically confirmed SLOS are being treated with cholesterol supplementation and antioxidant medication. They are carefully monitored with visits to clinic, laboratory testing including cholesterol and 7-dehydrocholesterol levels, vitamin levels, blood counts and liver and kidney function. On a serial basis, no more often than once a year, the patients undergo a series of tests under anesthesia, including electroretinogram (ERG), brainstem audiometry (ABR), and ophthalmologic exam under anesthesia to follow pigmentary retinopathy.

NCT ID: NCT00427180 Active, not recruiting - Clinical trials for Retinitis Pigmentosa

IRIS PILOT - Extended Pilot Study With a Retinal Implant System

Start date: December 2006
Phase: N/A
Study type: Interventional

Investigate whether blind subjects that fulfil the patient criteria provided with a Retinal Implant are able to differentiate between simple patterns like horizontal bar, vertical bar and cross.