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Pharmaceutics
Special Issues
Gene Therapy for Neurological Disease
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Gene Therapy for Neurological Disease

A special issue of Pharmaceutics (ISSN 1999-4923). This special issue belongs to the section "Gene and Cell Therapy".

Deadline for manuscript submissions: closed (31 March 2024) | Viewed by 6696

Special Issue Editors

Dr. Caroline Sevin

E-Mail Website
Guest Editor
1. Bicêtre Hospital, Neuropediatrics Unit, Le Kremlin Bicêtre, 94270 Paris, France
2. Technological Innovation and Development Unit (TIDU) in Gene and Cell Therapy Institut du Cerveau-ICM, 75013 Paris, France
Interests: leukodystrophie; lysosomal storage dieases; peroxysomal disease; gene therapy; HSCT; neurodegenerative disease
Dr. Francoise Piguet

E-Mail Website
Guest Editor
Technological Innovation and Development Unit (TIDU) in Gene and Cell Therapy Institut du Cerveau-ICM, 75013 Paris, France
Interests: AAV; neurological disorders; lysosmal storage disorders; gene eand cell therapy
Dr. Kumaran Deiva

E-Mail Website
Guest Editor
Department of Pediatric Neurology, University Hospitals Paris Saclay, Hôpital Bicêtre, National Reference Center for Rare Inflammatory Brain and Spinal Diseases, 94275 Le Kremlin-Bicêtre, France
Interests: immune cells; innate immunity; antibodies; immunosuppressors; gene therapy

Special Issue Information

Dear Colleagues,

Gene therapy is emerging as an exciting therapeutic strategy, not only for rare monogenic diseases, for which gene replacement is the main goal, but also for a wide range of neurodegenerative disorders with complex pathogenesis, for which gene delivery of novel therapeutic targets is a promising approach.

Several drugs are now accessing the market and facilitating the development of new approaches and new routes of delivery to better target the central and peripheral nervous system.

In this Special Issue, we want to review the current status of gene therapy for neurodegenerative disorders, present the last results in the field with all kind of approaches (including in vivo or ex vivo gene therapy), and also review emerging next-generation technologies.

Dr. Caroline Sevin
Dr. Francoise Piguet
Dr. Kumaran Deiva
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Pharmaceutics is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • gene therapy
  • AAV
  • lentivirus
  • Parkinson
  • alzheimer
  • lysosomal storage disorders
  • leukodystrophies

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Published Papers (2 papers)

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Research

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27 pages, 13001 KiB  
Article
Modulation of Brain Cholesterol Metabolism through CYP46A1 Overexpression for Rett Syndrome
by Emilie Audouard, Nicolas Khefif, Béatrix Gillet-Legrand, Fanny Nobilleau, Ouafa Bouazizi, Serena Stanga, Gaëtan Despres, Sandro Alves, Antonin Lamazière, Nathalie Cartier and Françoise Piguet
Pharmaceutics 2024, 16(6), 756; https://doi.org/10.3390/pharmaceutics16060756 - 3 Jun 2024
Viewed by 2391
Abstract
Rett syndrome (RTT) is a rare neurodevelopmental disorder caused by mutation in the X-linked gene methyl-CpG-binding protein 2 (Mecp2), a ubiquitously expressed transcriptional regulator. RTT results in mental retardation and developmental regression that affects approximately 1 in 10,000 females. Currently, there is no [...] Read more.
Rett syndrome (RTT) is a rare neurodevelopmental disorder caused by mutation in the X-linked gene methyl-CpG-binding protein 2 (Mecp2), a ubiquitously expressed transcriptional regulator. RTT results in mental retardation and developmental regression that affects approximately 1 in 10,000 females. Currently, there is no curative treatment for RTT. Thus, it is crucial to develop new therapeutic approaches for children suffering from RTT. Several studies suggested that RTT is linked with defects in cholesterol homeostasis, but for the first time, therapeutic evaluation is carried out by modulating this pathway. Moreover, AAV-based CYP46A1 overexpression, the enzyme involved in cholesterol pathway, has been demonstrated to be efficient in several neurodegenerative diseases. Based on these data, we strongly believe that CYP46A1 could be a relevant therapeutic target for RTT. Herein, we evaluated the effects of intravenous AAVPHP.eB-hCYP46A1-HA delivery in male and female Mecp2-deficient mice. The applied AAVPHP.eB-hCYP46A1 transduced essential neurons of the central nervous system (CNS). CYP46A1 overexpression alleviates behavioral alterations in both male and female Mecp2 knockout mice and extends the lifespan in Mecp2-deficient males. Several parameters related to cholesterol pathway are improved and correction of mitochondrial activity is demonstrated in treated mice, which highlighted the clear therapeutic benefit of CYP46A1 through the neuroprotection effect. IV delivery of AAVPHP.eB-CYP46A1 is perfectly well tolerated with no inflammation observed in the CNS of the treated mice. Altogether, our results strongly suggest that CYP46A1 is a relevant target and overexpression could alleviate the phenotype of Rett patients. Full article
(This article belongs to the Special Issue Gene Therapy for Neurological Disease)
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Review

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25 pages, 1523 KiB  
Review
Gene and Cellular Therapies for Leukodystrophies
by Fatima Aerts-Kaya and Niek P. van Til
Pharmaceutics 2023, 15(11), 2522; https://doi.org/10.3390/pharmaceutics15112522 - 24 Oct 2023
Cited by 4 | Viewed by 3583
Abstract
Leukodystrophies are a heterogenous group of inherited, degenerative encephalopathies, that if left untreated, are often lethal at an early age. Although some of the leukodystrophies can be treated with allogeneic hematopoietic stem cell transplantation, not all patients have suitable donors, and new treatment [...] Read more.
Leukodystrophies are a heterogenous group of inherited, degenerative encephalopathies, that if left untreated, are often lethal at an early age. Although some of the leukodystrophies can be treated with allogeneic hematopoietic stem cell transplantation, not all patients have suitable donors, and new treatment strategies, such as gene therapy, are rapidly being developed. Recent developments in the field of gene therapy for severe combined immune deficiencies, Leber’s amaurosis, epidermolysis bullosa, Duchenne’s muscular dystrophy and spinal muscular atrophy, have paved the way for the treatment of leukodystrophies, revealing some of the pitfalls, but overall showing promising results. Gene therapy offers the possibility for overexpression of secretable enzymes that can be released and through uptake, allow cross-correction of affected cells. Here, we discuss some of the leukodystrophies that have demonstrated strong potential for gene therapy interventions, such as X-linked adrenoleukodystrophy (X-ALD), and metachromatic leukodystrophy (MLD), which have reached clinical application. We further discuss the advantages and disadvantages of ex vivo lentiviral hematopoietic stem cell gene therapy, an approach for targeting microglia-like cells or rendering cross-correction. In addition, we summarize ongoing developments in the field of in vivo administration of recombinant adeno-associated viral (rAAV) vectors, which can be used for direct targeting of affected cells, and other recently developed molecular technologies that may be applicable to treating leukodystrophies in the future. Full article
(This article belongs to the Special Issue Gene Therapy for Neurological Disease)
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