☆ 4.8 Article

Gene therapy of inherited diseases

LANCET (2008)

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LANCET

卷 371, 期 9629, 页码 2044-2047

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ELSEVIER SCIENCE INC

DOI: 10.1016/S0140-6736(08)60874-0

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Medicine, General & Internal

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Realizing the Potential of Gene Therapies for Rare and Ultra-Rare Inherited Diseases

Claire Booth, Alessandro Aiuti

Summary: Gene therapies face challenges in rare diseases, but innovative solutions are being explored.

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RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy

Andrea Sodi, Sandro Banfi, Francesco Testa, Michele Della Corte, Ilaria Passerini, Elisabetta Pelo, Settimio Rossi, Francesca Simonelli

Summary: This study established recommendations on clinical and genetic characteristics necessary for gene supplementation with voretigene neparvovec through expert steering committee and multiple rounds of Delphi process. The guidelines aim to guide pediatricians and general ophthalmologists in making informed clinical decisions regarding eligibility for gene therapy for RPE65-associated IRD, ensuring the best outcome for the patient based on expert opinion, literature, and practical experience.

ORPHANET JOURNAL OF RARE DISEASES (2021)

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Measurement Properties of the Attitudes to Gene Therapy for the Eye (AGT-Eye) Instrument for People With Inherited Retinal Diseases

Myra B. McGuinness, Alexis Ceecee Britten-Jones, Lauren N. Ayton, Robert P. Finger, Fred K. Chen, John Grigg, Heather G. Mack

Summary: The study aimed to assess the measurement properties of the AGT-Eye instrument among Australian adults with inherited retinal diseases (IRDs) and parents/caregivers of people with IRDs. The results showed that the four subscales of the AGT-Eye could be used to analyze operational knowledge and perceived value of ocular gene therapy in Australia, but further improvement in measurement properties is needed.

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Newer therapeutic options for inherited retinal diseases: Gene and cell replacement therapy

Rajani Battu, Dhanashree Ratra, Lingam Gopal

Summary: Inherited retinal diseases (IRD) are a varied group of disorders that lead to severe vision loss. Recent advancements in gene therapy and cell therapy show promise in slowing disease progression and restoring some visual functions. Gene therapy introduces healthy genes to host cells, while cell therapy replaces degenerated cells with stem cells. Although there are limitations, these therapies hold potential for more precise and personalized treatments.

INDIAN JOURNAL OF OPHTHALMOLOGY (2022)

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The Potential of CRISPR/Cas9 Gene Editing as a Treatment Strategy for Inherited Diseases

Sameh A. Abdelnour, Long Xie, Abdallah A. Hassanin, Erwei Zuo, Yangqing Lu

Summary: CRISPR is a promising technology for genomic editing that can edit inherited deficiencies and treat diseases, with the recent development of synthetic RNA molecules alongside Cas9 offering new possibilities for targeted genome manipulation.

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Future Perspectives of Prime Editing for the Treatment of Inherited Retinal Diseases

Silja Hansen, Michelle E. McClements, Thomas J. Corydon, Robert E. MacLaren

Summary: Inherited retinal diseases (IRD) are a group of clinically and genetically diverse diseases that cause blindness in the working-age population. Gene augmentation therapies have limitations in treating IRDs, but DNA editing, particularly prime editing, shows potential in correcting different types of mutations. This review provides an overview of recent advancements in prime editing technology and discusses its potential as a treatment option for IRDs.

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The Michigan Retinal Degeneration Questionnaire: A Patient-Reported Outcome Instrument for Inherited Retinal Degenerations

Gabrielle D. Lacy, Maria Fernanda Abalem, Chris A. Andrews, Lilia T. Popova, Erin P. Santos, Gina Yu, Hanan Y. Rakine, Natasha Baig, Joshua R. Ehrlich, Abigail T. Fahim, Kari H. Branham, Joan A. Stelmack, Bonnielin K. Swenor, Gislin Dagnelie, David C. Musch, K. Thiran Jayasundera

Summary: A validated patient-reported outcome measure for inherited retinal degenerations was developed through qualitative and quantitative questionnaire development. The final 59-item questionnaire measures 7 unidimensional domains and shows stable test-retest variability. Known as the Michigan Retinal Degeneration Questionnaire, it can be used in clinical evaluation of patients with inherited retinal degenerations.

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miR-181a/b downregulation: a mutation-independent therapeutic approach for inherited retinal diseases

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Summary: The downregulation of miR-181a/b has beneficial effects on retinal diseases by promoting mitochondrial turnover and improving retinal morphology and function. This suggests that miR-181a/b downregulation could serve as an innovative mutation-independent therapeutic strategy for inherited retinal diseases.

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Optogenetic approaches to therapy for inherited retinal degenerations

Samantha R. De Silva, Anthony T. Moore

Summary: Inherited retinal degenerations, such as retinitis pigmentosa, are a major cause of blindness in working age adults. Optogenetics, a method that uses light to activate retinal cells, shows potential for restoring visual function in patients with advanced retinal degeneration. Several clinical trials are currently underway to investigate this approach.

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Gene-agnostic approaches to treating inherited retinal degenerations

Lindsey A. Chew, Alessandro Iannaccone

Summary: Most patients with inherited retinal degenerations (IRDs) have been waiting for cures for decades, and alternative approaches are needed for genetically and phenotypically diverse IRD patients. This review highlights gene-agnostic approaches being developed as therapeutics for IRDs.

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Gene Editing for Inherited Red Blood Cell Diseases

Oscar Quintana-Bustamante, Sara Fananas-Baquero, Mercedes Dessy-Rodriguez, Isabel Ojeda-Perez, Jose-Carlos Segovia

Summary: Gene therapy is a viable option for treating inherited hematological diseases, and gene editing techniques, such as CRISPR/Cas9, offer precise and safe approaches for correcting genetic mutations. Promising results have been seen in the treatment of red blood cell diseases, and the field is rapidly moving towards clinical applications.

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Review Biochemistry & Molecular Biology

An Update on Gene Therapy for Inherited Retinal Dystrophy: Experience in Leber Congenital Amaurosis Clinical Trials

Wei Chiu, Ting-Yi Lin, Yun-Chia Chang, Henkie Isahwan-Ahmad Mulyadi Lai, Shen-Che Lin, Chun Ma, Aliaksandr A. Yarmishyn, Shiuan-Chen Lin, Kao-Jung Chang, Yu-Bai Chou, Chih-Chien Hsu, Tai-Chi Lin, Shih-Jen Chen, Yueh Chien, Yi-Ping Yang, De-Kuang Hwang

Summary: Inherited retinal dystrophies (IRDs) are rare eye diseases caused by gene mutations, and gene therapy has shown promising prospects in treating these diseases. Gene therapy for patients with confirmed biallelic RPE65 mutation-associated Leber Congenital Amaurosis (LCA) has been approved by the FDA, marking a significant advancement in the field of genetic treatments for eye diseases.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies

Marina Stavrou, Irene Sargiannidou, Elena Georgiou, Alexia Kagiava, Kleopas A. Kleopa

Summary: CMT disease is a genetically heterogeneous disorder affecting the peripheral nerves, with diverse molecular genetic mechanisms discovered over the past three decades. There are currently various treatment approaches in preclinical testing and clinical trials, including disease-specific targeted therapies and treatments targeting common pathways shared by different CMT types. As promising treatments advance to clinical translation, optimizing outcome measures, novel biomarkers, and appropriate trial designs are crucial to facilitate successful testing and validation of novel treatments for CMT patients.

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RPE based gene and cell therapy for inherited retinal diseases: A review

Fatemeh Sanie-Jahromi, M. Hossein Nowroozzadeh

Summary: This study reviewed recent clinical trials on RPE-based gene/cell intervention for the treatment of inherited retinal diseases (IRD). The study provided an update on the clinical studies, summarized recent research, and presented the results of corresponding clinical trials. It showed that gene therapy and cell replacement therapy have great potential to become successful treatments for IRD in the future, although further studies are needed to improve the safety and efficacy of the treatment.

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Gene therapy of inherited diseases

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ELSEVIER SCIENCE INC

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