Update on Gene Therapy Clinical Trials for Choroideremia and Potential Experimental Therapies

<i>Background and objectives</i>: Choroideremia (CHM) is an X-linked recessive chorioretinal dystrophy caused by mutations involving the <i>CHM</i> gene. Gene therapy has entered late-phase clinical trials, although there have been variable results. This review gives a summar...

Full description

Bibliographic Details
Published in:	Medicina
Main Authors:	Alessandro Abbouda, Filippo Avogaro, Mariya Moosajee, Enzo Maria Vingolo
Format:	Article
Language:	English
Published:	MDPI AG 2021-01-01
Subjects:	choroideremia gene therapy clinical trials stem cells ataluren
Online Access:	https://www.mdpi.com/1648-9144/57/1/64

Similar Items

Oxidative and Endoplasmic Reticulum Stress Represent Novel Therapeutic Targets for Choroideremia
by: Hajrah Sarkar, et al.
Published: (2023-08-01)

Choroideremia with Mutation in CHM Gene. Clinical Cases with Literature Review
by: I. V. Zolnikova, et al.
Published: (2019-03-01)

Oxidative Stress, Inflammation and Altered Glucose Metabolism Contribute to the Retinal Phenotype in the Choroideremia Zebrafish
by: Cécile Méjécase, et al.
Published: (2024-12-01)

Gene therapy for choroideremia using an adeno-associated viral vector encoding Rab escort protein 1: the REGENERATE open-label trial
by: Jasmina Cehajic-Kapetanovic, et al.
Published: (2024-05-01)

Choroideremia – A clinical insight and differential diagnosis
by: Ali Nouraeinejad
Published: (2022-06-01)

Choroidal Vascularity Features in Patients with Choroideremia and Cystoid Spaces
by: Claudio Iovino, et al.
Published: (2021-02-01)

Using Goldmann Visual Field Volume to Track Disease Progression in Choroideremia
by: Adam P. DeLuca, PhD, et al.
Published: (2023-12-01)

Evaluation of amplification refractory mutation system (ARMS) technique for quick and accurate prenatal gene diagnosis of CHM variant in choroideremia
by: Yang L, et al.
Published: (2017-12-01)

A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia
by: Nejla Erkilic, et al.
Published: (2019-09-01)

Patient experience in retinitis pigmentosa and Choroideremia– a concept elicitation study in 17 patients based on qualitative interviews
by: Elke Rometsch, et al.
Published: (2025-08-01)

Reduced Retinal Pigment Epithelial Autophagy Due to Loss of Rab12 Prenylation in a Human iPSC-RPE Model of Choroideremia
by: Maide Ö. Raeker, et al.
Published: (2024-06-01)

Ataluren—Promising Therapeutic Premature Termination Codon Readthrough Frontrunner
by: Sylwia Michorowska
Published: (2021-08-01)

Терапевтични възможности при пациенти с безсмислени мутации в DMD гена
by: Teodora Chamova, et al.
Published: (2022-07-01)

Dynamics of the course of Duchenne muscular dystrophy in patients taking ataluren and concomitant drug and non-drug therapy
by: V. M. Suslov, et al.
Published: (2024-01-01)

Novel Translational Read-through–Inducing Drugs as a Therapeutic Option for Shwachman-Diamond Syndrome
by: Valentino Bezzerri, et al.
Published: (2022-04-01)

Positive experience in treating patients with Duchenne muscular dystrophy caused by a nonsense mutation: family clinical case
by: L. S. Kraeva, et al.
Published: (2024-09-01)

The experience of using ataluren in Duchenne muscular dystrophy in Moscow: first results
by: T. N. Kekeeva, et al.
Published: (2024-01-01)

Formulation and Stability of Ataluren Eye Drop Oily Solution for Aniridia
by: Celia Djayet, et al.
Published: (2020-12-01)

Identifying Meibomian Gland Dysfunction Biomarkers in a Cohort of Patients Affected by DM Type II
by: Alessandro Abbouda, et al.
Published: (2023-03-01)

REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia
by: Dulce Lima Cunha, et al.
Published: (2021-05-01)

The role of ataluren in the treatment of ambulatory and non-ambulatory children with nonsense mutation duchenne muscular dystrophy - a consensus derived using a modified Delphi methodology in Eastern Europe, Greece, Israel and Sweden
by: Tanja Golli, et al.
Published: (2024-02-01)

Symptoms and impacts of ambulatory nonsense mutation Duchenne muscular dystrophy: a qualitative study and the development of a patient-centred conceptual model
by: Kate Williams, et al.
Published: (2021-08-01)

Clinical Trials of Cancer Immunogene Therapies in Companion Animals: An Update (2017–2024)
by: Gerardo C. Glikin, et al.
Published: (2025-04-01)

OP-08 Analysing the transcriptome of choroideremia patient-derived iPSC-RPE
by: Mariya Moosajee, et al.
Published: (2024-03-01)

Regenerative Medicine Therapy in Malaysia: An Update
by: Siti A. M. Imran, et al.
Published: (2022-04-01)

Current Therapies in Clinical Trials of Parkinson’s Disease: A 2021 Update
by: E. Maruthi Prasad, et al.
Published: (2021-07-01)

Cell-Based Therapies for Traumatic Brain Injury: Therapeutic Treatments and Clinical Trials
by: Celia Bonilla, et al.
Published: (2021-06-01)

Mesenchymal Stem Cell-Based Therapy for Retinal Degenerative Diseases: Experimental Models and Clinical Trials
by: Vladimir Holan, et al.
Published: (2021-03-01)

Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: A case report
by: Rai-Hseng Hsu, et al.
Published: (2024-12-01)

The Interpretation of Guideline for Clinical Trials Design of Gene Therapy Products for Rare Diseases(Trial Version)
by: LIU Xiao, et al.
Published: (2024-07-01)

Frequency and Pattern of Worldwide Ocular Gene Therapy Clinical Trials up to 2022
by: Hossein Ameri, et al.
Published: (2023-11-01)

Responsible Translation of Stem Cell Research: An Assessment of Clinical Trial Registration and Publications
by: Moses Fung, et al.
Published: (2017-05-01)

Assessment of walking in patients with Duchenne muscular dystrophy receiving ataluren in real clinical practice
by: D. V. Aizatulina, et al.
Published: (2025-04-01)

Building for Biology: A Gene Therapy Trial Infrastructure
by: Samuel Taylor-Alexander, et al.
Published: (2017-06-01)

Clinical trials of stem cell-based therapies for pediatric diseases: a comprehensive analysis of trials registered on ClinicalTrials.gov and the ICTRP portal site
by: Yinwen Ji, et al.
Published: (2022-07-01)

Gene therapies development: slow progress and promising prospect
by: Eve Hanna, et al.
Published: (2017-01-01)

An Insight into the Prospects and Drawbacks of Stem Cell Therapy for Spinal Cord Injuries: Ongoing Trials and Future Directions
by: Shahidul Islam Khan, et al.
Published: (2023-12-01)

Editorial: Women in retina: 2022
by: Genea Edwards, et al.
Published: (2023-03-01)

Clinical trial landscape of CAR-T cell therapies for brain stem glioma: Current status and future directions
by: Min Jiang, et al.
Published: (2025-10-01)

Mesenchymal stem cell therapy for intractable neonatal disorders
by: So Yoon Ahn, et al.
Published: (2021-02-01)