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Gene therapy clinical trials for inherited eye diseases: The pediatric perspective
Athanasia Sandali1, Anna Nikolaidou2, Theodora Gianni1
1Program of Postgraduate Studies, MSc "Ocular Surgery", School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Insights
Gene therapy shows promise for inherited childhood eye diseases, with some trials improving vision and quality of life. Further research is needed to optimize pediatric gene therapy strategies and trial designs.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Inherited ocular diseases often manifest in childhood, necessitating effective treatments.
- Gene therapy is emerging as a viable therapeutic approach for these conditions in pediatric patients.
Purpose of the Study:
- To synthesize current literature on gene therapy for genetic ocular diseases in children.
- To review the progress and outcomes of clinical trials in pediatric ophthalmology.
Main Methods:
- Literature search of ClinicalTrials.gov for gene therapy trials in children (<18 years) with published results.
- Inclusion of 16 clinical trials investigating various genetic eye diseases.
Main Results:
- Trials focused on Leber's Congenital Amaurosis, Retinitis Pigmentosa, Usher Syndrome, and others.
- Most trials were in Phase 1 or 2, with some reaching Phase 3.
- Encouraging results in visual acuity, retinal sensitivity, and quality of life were observed, alongside variable efficacy, tolerability, and some adverse events.
Conclusions:
- Gene therapy holds significant promise for pediatric ophthalmology, offering potential improvements for inherited eye conditions.
- Future strategies should consider age-stratified enrollment and adaptive trial designs for pediatric populations.
- Further research is essential to refine efficacy and safety profiles of gene therapies in children.
Abstract:
Gene therapy is an increasingly useful treatment option, especially in children, where most inherited diseases manifest. This review provides a literature synthesis of current gene therapy treatments in pediatric ophthalmology. Our search encompassed the ClinicalTrials.gov database. Sixteen clinical trials with published results reporting gene therapy for genetic ocular diseases in children (under 18 years) were included. Diseases under investigation for gene therapy in children included Leber's Congenital Amaurosis (CEP290, RPE65 genes), Leber's Hereditary Optic Neuropathy (ND4), Retinitis Pigmentosa (MERTK), Usher Syndrome Type 2 (USH2A), X-linked Retinitis Pigmentosa (RPGR), Achromatopsia (CNGA3, CNGB3), and X-linked Retinoschisis (RS1). Most clinical trials in our search were in Phases 1 or 2, with five studies having progressed to Phase 3. In certain cases, treatment demonstrated encouraging results, providing the patients with an improvement in BCVA, retinal sensitivity, and quality of life. However, the outcome measures regarding the efficacy and tolerability of gene therapy varied and some studies noted adverse events. Clinical trials that have yet to publish their results were also recorded. While the field of pediatric ophthalmology shows promise for gene therapy options, future strategies should include stratified enrollment based on age, separate cohorts for pediatric and adult patients, or adaptive trial designs.
