Study of CNGB1 Retinitis Pigmentosa and Allied Hereditary Disorders
Mutations in the rod-expressed gene, cyclic nucleotide-gated channel beta subunit (CNGB1) and associated inborn errors in metabolism are causes of retinal disease that causes progressive loss of vision. Retinitis pigmentosa (RP) is a major cause of untreatable blindness associated with CNGB1 (CNGB1-RP). RP involves the death of photoreceptor cells that can be caused by mutations in a number of different genes. Treatment by gene therapy could prevent blindness in cases of inherited retinal dystrophies including RP. In the future RP due to mutations in CNGB1 may be treatable by gene therapy since this form of photoreceptor degeneration involves a slow loss of rod photoreceptor cells. This provides a wide window of opportunity for the identification of patients and initiation of treatment. Our efforts are directed toward developing gene therapy as a treatment. To this end, our objective is to better understand the disease process of CNGB1-RP and other allied inherited disorders so that we can develop clinical tests to measure the outcomes of treatment.
NCT04639635 — Retinitis Pigmentosa Associated With CNGB1 Mutations
Status: Recruiting
http://inclinicaltrials.com/retinitis-pigmentosa-associated-with-cngb1-mutations/NCT04639635/
Cord Blood Platelet-rich Plasma (CB-PRP) in Retinitis Pigmentosa and Dry Age-related Macular Degeneration
The study will provides the enrollment of patients with genetic retinal dystrophies with primary rod impairment and dry age-related macular degeneration (Geographic type) A subretinal injection of umbilical cord blood platelet-rich plasma (CB-PRP) will be performed only in one eye, the other eye will be considered as a control group. A complete morpho-functional ophthalmological evaluation will be performed in all patients at each control.
NCT04636853 — Retinitis Pigmentosa
Status: Completed
http://inclinicaltrials.com/retinitis-pigmentosa/NCT04636853/
PIGMENT - PDE6A Gene Therapy for Retinitis Pigmentosa
The PDE6A gene encodes a subunit of the rod phosphodiesterase. The loss of this enzyme function leads to a chronically elevated cGMP level which causes an increased calcium inflow into the cell and thereby the hyperactivation of cell death pathways. The goal of the PIGMENT study is to develop, produce and investigate a recombinant adeno-associated viral (AAV) gene transfer vector for the curative therapy of PDE6A-linked retinitis pigmentosa in patients, in order to counteract their disease progression and to stop further impairment of visual function. The vector is given with a single subretinal injection.
NCT04611503 — Retinitis Pigmentosa
Status: Active, not recruiting
http://inclinicaltrials.com/retinitis-pigmentosa/NCT04611503/
A Natural History Study to Evaluate Functional and Anatomical Progression in Retinitis Pigmentosa
This study will assess the progression of RP as seen on newer modalities including spectral-domain optical coherence (SD-OCT) and macular assessment integrity (MAIA) microperimetry to evaluate disease status. Understanding the natural history of the disease is not only essential to monitoring and comparing patient populations in clinical trials. It is also fundamental in the predevelopment phase in order to optimize the study duration needed to observe a statistically significant outcome. Furthermore, since the progression of RP is usually slow, relying on traditional tests can take an unfeasible length of time to observe any meaningful changes and assess therapeutic efficacy for new drugs. Therefore, the results of this study will be beneficial in establishing reliable endpoints and outcome measures for future clinical trials. Such outcome measures may be able to detect treatment response with more precision. More importantly, investigators may be able to detect changes early enough to prevent irreversible vision loss.
NCT04558983 — Retinitis Pigmentosa
Status: Recruiting
http://inclinicaltrials.com/retinitis-pigmentosa/NCT04558983/
An Open-label, Phase 1/2 Trial of Gene Therapy 4D-125 in Males With X-linked Retinitis Pigmentosa (XLRP) Caused by Mutations in the RPGR Gene
This is a Phase 1/2 multicenter study with two parallel parts: an observational natural history cohort and an open-label, prospective interventional trial in males with non-syndromic X-linked retinitis pigmentosa (XLRP) due to mutations in the gene encoding retinitis pigmentosa GTPase regulator (RPGR).
NCT04517149 — X-Linked Retinitis Pigmentosa
Status: Active, not recruiting
http://inclinicaltrials.com/x-linked-retinitis-pigmentosa/NCT04517149/
Safety Issues of Peribulbar Injection of Umbilical Cord Mesenchymal Stem Cell (UC-MSC) in Patients With Retinitis Pigmentosa
The study will perform UC-MSCs and CM transplantation. The first group will be injected by UCMSC+NaCl. the 2nd group will be injected by UC-MSC+CM. the 3rd group will be injected by CM. Each group consists of 6 subjects. all groups will be transplanted via peribulbar route. the dosage of UC-MSC is 1 million cells for each subject. All groups will be observed until 6 months.
NCT04315025 — Retinitis Pigmentosa
Status: Completed
http://inclinicaltrials.com/retinitis-pigmentosa/NCT04315025/
Natural History Study of Retinitis Pigmentosa Due to RHO, PDE6a or PDE6b Mutations
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.
NCT04285398 — Retinitis Pigmentosa
Status: Active, not recruiting
http://inclinicaltrials.com/retinitis-pigmentosa/NCT04285398/
Phase 1/2, Safety and Efficacy Trial of BS01, a Recombinant Adeno-Associated Virus Vector Expressing ChronosFP in Patients With Retinitis Pigmentosa
Non-randomized, open label, Phase 1/2 dose escalation study of BS01, a non-replicating, rep/cap-deleted, recombinant adeno-associated virus vector expressing an enhanced light-sensitive channelrhodopsin gene (ChronosFP).
NCT04278131 — Retinitis Pigmentosa
Status: Recruiting
http://inclinicaltrials.com/retinitis-pigmentosa/NCT04278131/
Management of Retinitis Pigmentosa Via Repetitive Electromagnetic Stimulation and Autologous Platelet Rich Plasma
The aim of this study is to investigate whether natural progression rate can be slowed down with subtenon PRP or PRP application combined with rEMS in retinitis pigmentosa cases.
NCT04252534 — Retinitis Pigmentosa
Status: Completed
http://inclinicaltrials.com/retinitis-pigmentosa/NCT04252534/
Effects of Subtenon-injected Autologous Platelet-rich Plasma on Visual Functions in Eyes With Retinitis Pigmentosa
Purpose One of the main reasons for apoptosis and dormant cell phases in degenerative retinal diseases such as retinitis pigmentosa (RP) is growth factor withdrawal in the cellular microenvironment. Growth factors and neurotrophins can significantly slow down retinal degeneration and cell death in animal models. One possible source of autologous growth factors is platelet-richplasma.The purpose of this study was to determine if subtenon injections of autologous platelet-rich plasma (aPRP) can have beneficial effects on visual function in RP patients by reactivating dormant photoreceptors.
NCT04238858 — Retinitis Pigmentosa
Status: Completed
http://inclinicaltrials.com/retinitis-pigmentosa/NCT04238858/