Genetic Treatment Approaches in Rare Pediatric Diseases DOI Open Access
Stefan Bittmann

Asian Journal of Pediatric Research, Journal Year: 2024, Volume and Issue: 14(9), P. 1 - 9

Published: Aug. 26, 2024

Gene and cell therapies have been developed approved for a growing number of pediatric diseases, with ongoing research additional treatments. Each therapy is tailored to the specific disease targets genetic alteration or population. The development new complex regulated process, strict oversight at regional European levels. Research begins in laboratory progresses through clinical trials ensure safety efficacy. Scientists are exploring novel using human cells tissues model diseases. Clinical conducted evaluate effectiveness these therapies, researchers also investigating repurposing treatments other diseases aspects same disease.

Language: Английский

Use of Real‐World Data and Real‐World Evidence in Rare Disease Drug Development: A Statistical Perspective DOI Open Access
Jie Chen, Susan Gruber, Hana Lee

et al.

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

Published: Feb. 14, 2025

Real‐world data (RWD) and real‐world evidence (RWE) have been increasingly used in medical product development regulatory decision‐making, especially for rare diseases. After outlining the challenges possible strategies to address disease drug (see accompanying paper), Real‐World Evidence Scientific Working Group of American Statistical Association Biopharmaceutical Section reviews roles RWD RWE clinical trials drugs treating This paper summarizes relevant guidance documents frameworks by selected agencies current practice on use natural history studies design, conduct, analysis trials. A targeted learning roadmap is described, followed case support a study marketing applications various settings.

Language: Английский

Citations

2
Nanotheranostics Revolutionizing Gene Therapy: Emerging Applications in Gene Delivery Enhancement DOI Creative Commons
Paula Guzmán-Sastoque, Cristian F. Rodríguez,

María Camila Monsalve

et al.

Journal of Nanotheranostics, Journal Year: 2025, Volume and Issue: 6(2), P. 10 - 10

Published: April 9, 2025

Nanotheranostics—where nanoscale materials serve both diagnostic and therapeutic functions—are rapidly transforming gene therapy by tackling critical delivery challenges. This review explores the design engineering of various nanoparticle systems (lipid-based, polymeric, inorganic, hybrid) to enhance stability, targeting, endosomal escape genetic payloads. We discuss how real-time imaging capabilities integrated into these platforms enable precise localization controlled release genes, improving treatment efficacy while reducing off-target effects. Key strategies overcome barriers (such as proton sponge effect photothermal disruption) achieve nuclear are highlighted, along with recent advances in stimuli-responsive that facilitate spatiotemporal control expression. Clinical trials preclinical studies demonstrate expanding role nanotheranostics managing cancer, inherited disorders, cardiovascular neurological diseases. further address regulatory manufacturing hurdles must be for widespread clinical adoption nanoparticle-based therapies. By synthesizing progress ongoing challenges, this underscores transformative potential effective, targeted, image-guided delivery.

Language: Английский

Citations

1
Recent Advances and Prospects in RNA Drug Development DOI Open Access
Hidenori Tani

International Journal of Molecular Sciences, Journal Year: 2024, Volume and Issue: 25(22), P. 12284 - 12284

Published: Nov. 15, 2024

RNA therapeutics have undergone remarkable evolution since their inception in the late 1970s, revolutionizing medicine by offering new possibilities for treating previously intractable diseases. The field encompasses various modalities, including antisense oligonucleotides (ASOs), small interfering RNAs (siRNAs), microRNAs (miRNAs), and messenger (mRNAs), each with unique mechanisms applications. foundation was laid 1978 discovery that synthetic could inhibit viral replication, followed pivotal developments such as interference's 1998. COVID-19 pandemic marked a crucial turning point, demonstrating potential of mRNA vaccines accelerating interest RNA-based approaches. However, significant challenges remain, stability issues, delivery to target tissues, off-target effects, immunogenicity concerns. Recent advancements chemical modifications, systems, integration AI technologies are addressing these challenges. has seen notable successes, approved treatments spinal muscular atrophy hereditary transthyretin-mediated amyloidosis. Looking ahead, show promise personalized approaches, particularly genetic disorders cancer. continued this field, driven technological innovations deeper understanding biology, suggests transformative impact on future medical treatments. purpose review is provide comprehensive overview evolution, current state, prospects therapeutics.

Language: Английский

Citations

8
Gene Therapy with Gene Delivery Systems and Therapeutic Strategies: A New Frontier in Cancer Treatment DOI

Thippenahalli Narasimhaiah Ramakrishnaiah,

Sowbhagya Ramachandregowda,

Harsha Muktha

et al.

Journal of Drug Delivery Science and Technology, Journal Year: 2025, Volume and Issue: unknown, P. 106798 - 106798

Published: March 1, 2025

Language: Английский

Citations

0
Adeno-Associated Virus Therapies: Pioneering Solutions for Human Genetic Diseases DOI Creative Commons
Dequan Liu, Li Tian, Lei Liu

et al.

Cytokine & Growth Factor Reviews, Journal Year: 2024, Volume and Issue: unknown

Published: Sept. 1, 2024

Language: Английский

Citations

3
WWOX-related epileptic encephalopathy caused by a novel mutation in the WWOX gene: a case report DOI Creative Commons
Dan Feng, Li Ye, Yating Zhang

et al.

Frontiers in Pediatrics, Journal Year: 2024, Volume and Issue: 12

Published: Oct. 2, 2024

-related epileptic encephalopathy is an autosomal recessive disorder caused by mutations in the WW-containing oxidoreductase gene, characterized onset of refractory seizures infants. Early-onset epilepsy, electroencephalography abnormalities, and developmental delay or degeneration are main clinical manifestations. Early death can occur severe cases. In present study, a novel variant

Language: Английский

Citations

1
Genetic Treatment Approaches in Rare Pediatric Diseases DOI Open Access
Stefan Bittmann

Asian Journal of Pediatric Research, Journal Year: 2024, Volume and Issue: 14(9), P. 1 - 9

Published: Aug. 26, 2024

Gene and cell therapies have been developed approved for a growing number of pediatric diseases, with ongoing research additional treatments. Each therapy is tailored to the specific disease targets genetic alteration or population. The development new complex regulated process, strict oversight at regional European levels. Research begins in laboratory progresses through clinical trials ensure safety efficacy. Scientists are exploring novel using human cells tissues model diseases. Clinical conducted evaluate effectiveness these therapies, researchers also investigating repurposing treatments other diseases aspects same disease.

Language: Английский

Citations

0