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Clinical Trials About "Mutation screening USH2A gene retinitis pigmentosa USHER patients" RSS

11:56 EDT 23rd September 2018 | BioPortfolio

We list hundreds of Clinical Trials about "Mutation screening USH2A gene retinitis pigmentosa USHER patients" on BioPortfolio. We draw our references from global clinical trials data listed on ClinicalTrials.gov and refresh our database daily.

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Showing "Mutation screening USH2A gene retinitis pigmentosa USHER patients" Clinical Trials 1–25 of 7,900+

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Rate of Progression in USH2A Related Retinal Degeneration

The overall goal of this project is to characterize the natural history of disease progression in patients with USH2A related retinal degeneration associated with congenital hearing loss (Usher syndrome type 2a) or non-syndromic retinitis pigmentosa (RP39).


Study of Dietary N-3 Fatty Acids in Patients With Retinitis Pigmentosa and Usher Syndrome

OBJECTIVES: I. Examine the concentration of docosahexanoic acid (DHA) and other n-3 fatty acids in plasma, erythrocyte, and adipose tissue in patients with various forms of retinitis pigmentosa and Usher syndrome. II. Determine the synthesis and catabolism of DHA from linolenic acid in these patients. III. Determine the synthesis, absorption, and catabolism of DHA under different dietary conditions in these patients.

Clinical Characterization on PDE6A-related Retinitis Pigmentosa in Preparation to a Gene Therapy Trial

Mutations in the PDE6A gene - encoding the -subunit of the rod cGMP-phosphodiesterase - account for 1% of autosomal recessive retinitis pigmentosa (arRP) through impaired regulation of cGMP levels in the rod outer segment. This study aims for a detailed clinical characterization of patients with PDE6A mutations in preparation of a clinical gene replacement study (phase I/II safety trial).


Gene Therapy for X-linked Retinitis Pigmentosa (XLRP) Retinitis Pigmentosa GTPase Regulator (RPGR)

A clinical trial of AAV2 vector for patients with X-linked retinitis pigmentosa (XLRP)

Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B

To evaluate the safety and tolerability of ascending doses of subretinal injections of UshStat in patients with Usher syndrome type 1B. To evaluate for possible biological activity of UshStat.

A First-in-human, Proof of Concept Study of CPK850 in Patients With RLBP1 Retinitis Pigmentosa

CPK850 is a recombinant adeno-associated virus 8 (AAV8) vector containing the human RLBP1 gene. The purpose of this first-in-human study is to explore the maximum tolerated dose (MTD) of CPK850 as determined by the single ascending dose ranging portion of the study. This study will also evaluate the safety and potential efficacy of CPK850 on improving visual function in patients with decreased visual function from RLBP1 retinitis pigmentosa due to biallelic mutations in the RLB...

Clinical Evaluation of Patients With X-linked Retinitis Pigmentosa (XLRP)

The purpose of this study is to evaluate subjects with X-linked retinitis pigmentosa caused by RPGR-ORF15 mutations in a clinical setting to fully characterize their condition, measure testing variability, and estimate rates of progression of clinical parameters.

A Clinical Trial of Retinal Gene Therapy for X-linked Retinitis Pigmentosa

A clinical trial of AAV-RPGR retinal gene therapy for patients with X-linked retinitis pigmentosa

Safety and Efficacy Study in Patients With Retinitis Pigmentosa Due to Mutations in PDE6B Gene

The study is a Phase I/II, monocentric, open-label, dose-ranging safety and efficacy gene therapy intervention by subretinal administration of AAV2/5-hPDE6B. At least twelve patients 18 years of age or older, within three consecutive cohorts of patients, will be recruited.

Dose-escalation Study to Evaluate the Safety and Tolerability of GS030 in Subjects With Retinitis Pigmentosa

The objective of this study is to evaluate the safety and tolerability of escalating doses of a gene therapy called GS030-DP (injected study treatment) administered via a single intravitreal injection and repeated light stimulation using a medical device called GS030-MD (stimulating glasses) in subjects with documented diagnosis of non-syndromic Retinitis Pigmentosa

Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa

The purpose of this study is to evaluate the effect of L-Dopa on the progression of retinitis pigmentosa.

Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR)

The rod-cone dystrophies (often referred to as retinitis pigmentosa (RP)) are a clinically and genetically heterogeneous group of disorders in which there is progressive loss of rod and later cone photoreceptor function leading to severe visual impairment. RP usually occurs as an isolated retinal disorder, but it may also be seen in association with systemic abnormalities.

Safety Study in Retinal Transplantation for Retinitis Pigmentosa.

The long-term goal is to show that retinal transplantation can help to prevent blindness and to restore eyesight in patients with the inherited disease retinitis pigmentosa.

Randomized Clinical Trial for Retinitis Pigmentosa

The purpose of this trial is to determine whether a nutritional supplement in addition to vitamin A will slow the course of retinitis pigmentosa.

Study of Docosahexaenoic Acid (DHA) Supplementation in Patients With X-Linked Retinitis Pigmentosa

OBJECTIVES: I. Evaluate the potential of nutritional docosahexaenoic acid (DHA) supplementation to normalize the level of DHA in red blood cells, and to retard the progression of visual function loss in patients with early stage X-linked retinitis pigmentosa.

Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa

To determine whether supplements of vitamin A or vitamin E alone or in combination affect the course of retinitis pigmentosa.

Randomized Trial for Retinitis Pigmentosa

The purpose of this trial is to determine whether a nutritional supplement in addition to vitamin A will slow the course of retinitis pigmentosa.

Slowing the Degenerative Process, Long Lasting Effect of Hyperbaric Oxygen Therapy in Retinitis Pigmentosa

Our aim was to assess the role and usefulness of Hyperbaric oxygen therapy in a long lasting period, assessing its efficacy on rescuing retinal photoreceptors and preserving visual function in retinitis pigmentosa.

Safety and Efficacy of rAAV2tYF-GRK1-RPGR in Subjects With X-linked Retinitis Pigmentosa Caused by RPGR-ORF15 Mutations

This study will evaluate the safety and efficacy of a recombinant adeno-associated virus vector expressing a human RPGR-ORF15 gene (rAAV2tYF-GRK1-RPGR) in patients with X-linked retinitis pigmentosa caused by RPGR-ORF15 mutations. Approximately 15 participants will be enrolled and 3 dose levels will be evaluated in a dose-escalation format.

The Effects of Cannabis on Visual Functions in Healthy and Retinitis Pigmentosa Patients

Medical Marijuana is used widely, and its effects on the visual system and the function of the retina have not been investigated thoroughly. Some evidence suggests that cannabinoids may be beneficial in certain degenerative diseases of the retina. The purpose of the study is 1. To determine whether cannabis derivatives affect the visual functions in healthy adults 2. To examine the effect of cannabis derivatives on the retina of retinitis pigmentosa patients

Exercise and RP (AVAMC and Emory)

The purpose of this study is to look in humans at the relationship between moderate or little exercise and their potential effects on the retina in patients with Retinitis Pigmentosa (RP).

Autologous Bone Marrow-Derived CD34+, CD133+, and CD271+ Stem Cell Transplantation for Retinitis Pigmentosa

A single arm, single center trial to evaluate the safety and efficacy of autologous purified populations of bone-marrow derived stem cells in patients with Retinitis Pigmentosa (BM-SCs) through a 48 month follow up period.

Observational Natural History Study of Autosomal Dominant Retinitis Pigmentosa (adRP)

The purpose of this study is to gain an understanding of disease progression over time in adRP patients with misfolded rod opsin mutations, as measured by Ellipsoid Zone (EZ) area and a variety of visual function assessments.

Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa

The purpose of this study is to evaluate the short-term safety of a single intravitreal injection of autologous bone marrow stem cells in patients with retinitis pigmentosa.

RST-001 Phase I/II Trial for Retinitis Pigmentosa

RST-001 is a gene therapy given as an injection into the eye and delivers a gene encoding a photo switch, channelrhodopsin-2, (optogenetics) to cells in the retina of the eye. When expressed, the channelrhodopsin-2 protein can depolarize in response to light thus generating a signal that is transmitted to the brain. The study is composed of two parts. An initial dose-ranging study (part 1) is proposed whereby three dose levels of RST-001 will be studied in three separate group...


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