Success against blindness encourages gene therapy researchers

Ledford, Heidi

doi:10.1038/526487a

Cited by 8 publications

(3 citation statements)

References 6 publications

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“…This encouraged three independent research groups to initiate first in man studies that led to success during phases I of clinical trials, as reported on 2008 [14][15][16]. Nevertheless, the benefit of the treatment over long periods was controversial [17]. The group led by Jean Bennett made critical improvement of the treatment by showing the absence of advert effects associated with the treatment of the contralateral eye of the patients [18], while the two other groups reported the absence of benefit for the treated patients on the long-term [19][20][21].…”

Section: Introductionmentioning

confidence: 99%

Metabolic and Redox Signaling of the Nucleoredoxin-Like-1 Gene for the Treatment of Genetic Retinal Diseases

Clérin

Marussig

Sahel

et al. 2020

IJMS

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The loss of cone photoreceptor function in retinitis pigmentosa (RP) severely impacts the central and daily vision and quality of life of patients affected by this disease. The loss of cones follows the degeneration of rods, in a manner independent of the causing mutations in numerous genes associated with RP. We have explored this phenomenon and proposed that the loss of rods triggers a reduction in the expression of rod-derived cone viability factor (RdCVF) encoded by the nucleoredoxin-like 1 (NXNL1) gene which interrupts the metabolic and redox signaling between rods and cones. After providing scientific evidence supporting this mechanism, we propose a way to restore this lost signaling and prevent the cone vision loss in animal models of RP. We also explain how we could restore this signaling to prevent cone vision loss in animal models of the disease and how we plan to apply this therapeutic strategy by the administration of both products of NXNL1 encoding the trophic factor RdCVF and the thioredoxin enzyme RdCVFL using an adeno-associated viral vector. We describe in detail all the steps of this translational program, from the design of the drug, its production, biological validation, and analytical and preclinical qualification required for a future clinical trial that would, if successful, provide a treatment for this incurable disease.

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Section: Introductionmentioning

confidence: 99%

Metabolic and Redox Signaling of the Nucleoredoxin-Like-1 Gene for the Treatment of Genetic Retinal Diseases

Clérin

Marussig

Sahel

et al. 2020

IJMS

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“…Some patients still maintain their improved vision at eight years after gene therapy. 5 Another major breakthrough is AAV-8-mediated gene therapy for hemophilia B. Hemophilia B is caused by mutations in a gene that encodes coagulation factor IX. To treat hemophilia B, scientists packaged a normal factor IX gene in an AAV-8 vector and injected intravenously to patients with severe hemophilia B.…”

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confidence: 99%

“…If successful, this will become the first AAV gene therapy approved by FDA. 5 PPMD: What's the rationale for gene therapy in Duchenne? How does a gene delivered via gene therapy help ameliorate the progression of DMD?…”

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confidence: 99%

Dystrophin Gene Replacement and Gene Repair Therapy for Duchenne Muscular Dystrophy in 2016: An Interview

Duan

2016

Human Gene Therapy Clinical Development

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After years of relentless efforts, gene therapy has now begun to deliver its therapeutic promise in several diseases. A number of gene therapy products have received regulatory approval in Europe and Asia. Duchenne muscular dystrophy (DMD) is an X-linked inherited lethal muscle disease. It is caused by mutations in the dystrophin gene. Replacing and/or repairing the mutated dystrophin gene holds great promises to treated DMD at the genetic level. Last several years have evidenced significant developments in preclinical experimentations in murine and canine models of DMD. There has been a strong interest in moving these promising findings to clinical trials. In light of rapid progress in this field, the Parent Project Muscular Dystrophy (PPMD) recently interviewed me on the current status of DMD gene therapy and readiness for clinical trials. Here I summarized the interview with PPMD.

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Gene Therapy Using Genomic DNA

Han

2018

Gene Therapy in Neurological Disorders

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Success against blindness encourages gene therapy researchers

Cited by 8 publications

References 6 publications

Metabolic and Redox Signaling of the Nucleoredoxin-Like-1 Gene for the Treatment of Genetic Retinal Diseases

Metabolic and Redox Signaling of the Nucleoredoxin-Like-1 Gene for the Treatment of Genetic Retinal Diseases

Dystrophin Gene Replacement and Gene Repair Therapy for Duchenne Muscular Dystrophy in 2016: An Interview

Gene Therapy Using Genomic DNA

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