Plasmid Gene Therapy for Monogenic Disorders: Challenges and Perspectives

Pharmaceutics, Journal Year: 2025, Volume and Issue: 17(1), P. 104 - 104

Published: Jan. 14, 2025

Monogenic disorders are a group of human diseases caused by mutations in single genes. While some disease-altering treatments offer relief and slow the progression certain conditions, majority monogenic still lack effective therapies. In recent years, gene therapy has appeared as promising approach for addressing genetic disorders. However, despite advancements manipulation tools delivery systems, several challenges remain unresolved, including inefficient delivery, sustained expression, immunogenicity, toxicity, capacity limitations, genomic integration risks, limited tissue specificity. This review provides an overview plasmid-based techniques methods currently employed diseases, highlighting they face exploring potential strategies to overcome these barriers.

Language: Английский

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Understanding Rett Syndrome: Genetic, clinical and therapeutic perspectives - literature review

Journal of Education Health and Sport, Journal Year: 2025, Volume and Issue: 77, P. 57074 - 57074

Published: Jan. 14, 2025

Introduction and Objective: Rett syndrome (RTT) is a genetic neurodevelopmental disorder that predominantly affects the female. The disease develops after 6 months of age causing abnormalities in child's development. aim this article to bring together latest information clinical, therapeutic perspectives on RTT. Review Methods: review was based publicly available PubMed Google Scholar, Web Science Scopus databases from 2019 2024 using following phrases: rett syndrome, treatment, rehabilitation, MECP2. Publications were analyzed non-systematic method create brief synthesis information. Brief Description State Knowledge: characterised by loss-of-function mutation MECP2 gene, which located long arm X chromosome. diagnosis confirmed clinical criteria such as complete loss acquired targeted hand skills, spoken language, gait confirmation gene. Treatment focuses multidisciplinary management symptoms associated with an individualised rehabilitation programme. Recent studies show positive effects trofinetide gene therapy, genome editing ataluren promise be promising treatment for Summary: authors highlight need development early RTT infants, focused family-centred care (FCC) further research towards innovative treatments Syndrome.

Language: Английский

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Hearing All Voices Through Patient-Focused Drug and Device Development Programs

Clinical Therapeutics, Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 1, 2025

Language: Английский

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Emerging therapies for childhood-onset movement disorders

Current Opinion in Pediatrics, Journal Year: 2024, Volume and Issue: 36(3), P. 331 - 341

Published: April 4, 2024

Purpose of review We highlight novel and emerging therapies in the treatment childhood-onset movement disorders. structured this by therapeutic entity (small molecule drugs, RNA-targeted therapeutics, gene replacement therapy, neuromodulation), recognizing that there are two main approaches to treatment: symptomatic (based on phenomenology) molecular mechanism-based therapy or ‘precision medicine’ (which is disease-modifying). Recent findings reports new small drugs for Tourette syndrome, Friedreich's ataxia Rett syndrome. also discuss developments aromatic l-amino acid decarboxylase deficiency hereditary spastic paraplegia, as well current work exploring optimization deep brain stimulation lesioning with focused ultrasound. Summary Childhood-onset disorders have traditionally been treated symptomatically based phenomenology, but focus has recently shifted toward targeted therapeutics. The development precision driven increasing capabilities genetic testing a better delineation underlying disease mechanisms. exciting while discussing general challenges rare diseases. provide framework approaches, summary specific treatments various disorders, clinical trial readiness framework.

Language: Английский

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A New Hope in The Treatment of Rett Syndrome: Trofinetide

Phoenix Medical Journal, Journal Year: 2024, Volume and Issue: unknown

Published: June 24, 2024

Trofinetide is a medication used to treat Rett Syndrome. It was approved by the United States in March 2023 for treatment of Syndrome adults and children ages 2 older. The drug an N-terminal tripeptide derivative insulin-like growth factor-1 (IGF-1) oral, small molecule, synthetic analogue. FDA's approval trophinetide marks first authorized

Language: Английский

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Utilization of Antiviral Peptides in Treating Coronavirus Infection: An Overview

International Journal of Peptide Research and Therapeutics, Journal Year: 2024, Volume and Issue: 31(1)

Published: Nov. 16, 2024

Language: Английский

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