Clinical trials: Cone-Rod Dystrophy
Retinitis Pigmentosa, Cone Dystrophy
Phenotype Correlates Genotype of Inherited Retina Dystrophies, Retinitis Pigmentosa, Con>Rod Dystrophies.
Patients with retina dystrophies (retinitis pigmentosa, cone>rods dystrophies, Usher and syndromic) will be correlated with genotype and validate inheritance mode by segregation analysis.
- Conditions
- Retinitis Pigmentosa, Cone Dystrophy, Usher Syndromes, Retina; Dystrophy
- Trial name
- NCT03990727
- Testing
- Retina Analysis-mosaic, Autofluorescence, OCT- 1 micra
- Where
- Mexico
- Volunteers
- 17,000 people, healthy volunteers welcome
- Sponsor
- MejoraVisionMD
Juvenile Idiopathic Arthritis (JIA)
Angiogenic Biomarkers in Juvenile Idiopathic Arthritis
The aim of the study is to determine whether serum inflammatory angiogenic markers (eg, semaphorins, CCN1) predict severity of juvenile idiopathic arthritis defined by structural progression and/or therapeutic escalation.
- Trial name
- MAJIC (NCT05534347)
- Testing
- Blood sample, Joint puncture
- Where
- France
- Volunteers
- 300 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Stargardt Disease, Stargardt Disease 1
Prescreening Study to Identify Potential Stargardt Participants for ACDN-01 Clinical Trials (STARPATH)
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.
- Conditions
- Stargardt Disease, Stargardt Disease 1, Cone Rod Dystrophy, Juvenile Macular Degeneration
- Trial name
- NCT06445322
- Testing
- Prescreening Assessments
- Where
- 9 sites in United States
- Volunteers
- 50 people
- Sponsor
- Ascidian Therapeutics, Inc
Prematurity
Supply With Micronutrients (Purine and Pyrimidine) in Infants: a Prospective and Observational Study
Concentrations of micronutrients (especially purine and pyrimidine) in cord blood, blood of mothers and infants and human milk is studied
- Trial name
- NCT03532633
- Testing
- cord blood, blood sample infant, blood sample mother
- Where
- Germany
- Volunteers
- 150 people
- Sponsor
- University Hospital Tuebingen
Retinal Dystrophy, Cone-Rod, Cone Dystrophy
Study of New Mutations in Cone Disorders
High throughput sequencing gives the opportunity to improve the genetic diagnosis for patients suffering from retinal dystrophies and specially from cone disorders.
- Conditions
- Retinal Dystrophy, Cone-Rod, Cone Dystrophy, Cone Rod Dystrophy, Macular Degeneration
- Trial name
- INTROCONE (NCT04658251)
- Testing
- Blood and/or skin biopsy
- Where
- France
- Volunteers
- 7 people
- Sponsor
- University Hospital, Lille
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
Spinal Cord Injury, Spinal Cord Involvement
Clinical Trial of a Serious Game for Individuals With SCI/D
This study will evaluate the efficacy of a newly developed serious game, SCI HARD, to enhance self-management skills, self-reported health behaviors, and quality of life among adolescents and young adults with spinal cord injury…
- Conditions
- Spinal Cord Injury, Spinal Cord Involvement, Spina Bifida, Transverse Myelitis
- Trial name
- NCT02341950
- Testing
- SCI Hard
- Where
- United States
- Volunteers
- 184 people
- Sponsor
- University of Michigan
Stargardt Disease, Cone Rod Dystrophy
Study to Evaluate ACDN-01 in ABCA4-related Stargardt Retinopathy (STELLAR)
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…
- Conditions
- Stargardt Disease, Cone Rod Dystrophy, Juvenile Macular Degeneration, Stargardt Disease 1
- Trial name
- NCT06467344
- Testing
- ACDN-01
- Where
- 11 sites in United States
- Volunteers
- 15 people
- Sponsor
- Ascidian Therapeutics, Inc
Retinitis Pigmentosa (RP)
Retrospective Natural History Study of Retinitis Pigmentosa
This is natural history study of rods and cones degenerations in patients with Retinitis Pigmentosa (RP) caused by pathogenic mutations in RHO, PDE6A or PDE6B gene mutations.
- Trial name
- PHENOROD1 (NCT03975543)
- Where
- France
- Volunteers
- 113 people
- Sponsor
- SparingVision
Retinal Dystrophies
EyeConic: Qualification for Cone-Optogenetics
This study aims to prepare for the first-in-human clinical trial of cone optogenetics vision restoration. As a first step, this worldwide multicenter ocular imaging study (EyeConic Study) is performed to identify eligible…
- Trial name
- NCT05294978
- Testing
- Optical coherence tomography (OCT)
- Where
- 9 sites in United States, China and 5 more
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Institute of Molecular and Clinical Ophthalmology Basel
Inherited Ophthalmic Diseases, Inherited Retinal Degeneration
Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS)
Background: People with rod-cone dystrophy (RCD) or enhanced S-cone syndrome (ESCS) have excess fluid under the retina of their eye. This can cause vision loss.
- Trial name
- NCT02338973
- Testing
- Interferon gamma-1b
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- National Eye Institute (NEI)
Retinal Degeneration, Retinitis Pigmentosa
Rod and Cone Mediated Function in Retinal Disease
Background: Retinal diseases cause the loss of rod and cone photoreceptors. Symptoms include vision loss and night blindness. Researchers want to learn about rod and cone function in healthy people and people with retinal…
- Conditions
- Retinal Degeneration, Retinitis Pigmentosa, Stargardt's Disease
- Trial name
- NCT02617966
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)
X-Linked Retinitis Pigmentosa
A Clinical Trial of Retinal Gene Therapy for X-linked Retinitis Pigmentosa Using BIIB112
The objective of the study is to evaluate the safety, tolerability and efficacy of a single sub-retinal injection of BIIB112 in participants with X-linked retinitis pigmentosa (XLRP).
- Trial name
- XIRIUS (NCT03116113)
- Testing
- BIIB112
- Where
- 8 sites in United States, United Kingdom
- Volunteers
- 50 people
- Sponsor
- Biogen
Smith-Lemli-Opitz Syndrome, Cone-Rod Dystrophy
Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
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…
- Conditions
- Smith-Lemli-Opitz Syndrome, Cone-Rod Dystrophy, Hearing Loss
- Trial name
- NCT01773278
- Testing
- Antioxidants, Cholesterol
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- University of Colorado, Denver
Apgar; 0-3 at 1 Minute, Metabolic Acidosis
Autologous Stem Cells in Newborns With Oxygen Deprivation
The purpose of this study is to determine whether the plasticity of autologous intravenous application of cord blood stem cells would improve the clinical course of asphyxiated newborns.
- Conditions
- Apgar; 0-3 at 1 Minute, Metabolic Acidosis, Hypoxia, Brain, Multiple Organ Failure
- Trial name
- NCT01506258
- Testing
- Application of Stem Cells, Observation
- Where
- Mexico
- Volunteers
- 20 people
- Sponsor
- Hospital Universitario Dr. Jose E. Gonzalez
Cord
MNCs for Bone Marrow Failure After Malignant Diseases Children Chemotherapy
This project aims to investigate the therapeutic and repair effects of cord blood mononuclear cells (MNCs) on bone marrow failure after chemotherapy in children with malignant diseases.
- Trial name
- NCT05628272
- Testing
- Intravenous infusion of cord blood mononuclear cells, application of granulocyte stimulating factor
- Where
- China
- Volunteers
- 20 people
- Sponsor
- Qianfoshan Hospital
Cone-Rod Degeneration, Rod-Cone Degeneration
Virtual Reality Mobility Assessment of Functional Vision in Retinal Disease
Background: The retina is a thin layer of tissue at the back of the eye. Retinal disease usually reduces a person s mobility because it affects how he or she moves through familiar and unfamiliar environments.
- Trial name
- NCT04289571
- Testing
- VR Mobility Tool
- Where
- 2 sites in United States, Australia
- Volunteers
- 165 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)