Clinical Research for Inherited Retinal Disease Related Pediatric Blindness: A Preliminary Descriptive Analysis Based on ClinicalTrials.gov.

Abstract

Background: Childhood blindness is a significant global health concern, consistently identified in existing research as stemming from rare genetic and congenital disorders. With the technological advances of the 21^st century which have positively impacted many areas of human life, healthcare included, recent advances in gene therapy and pharmacological interventions have served to spur clinical research in this area. The primary focus of the current study was to use data from ClinicalTrials.gov to carry out a preliminary exploration and and descriptive analysis of clinical trials focusing on the treatment of childhood blindness.

Methods: A cross-sectional analysis was conducted using data from ClinicalTrials.gov. The initial search for data in ClinicalTrials.gov yielded a total of 110 studies under blindness-related conditions. Upon further cross-examination of these studies based on the inclusion criteria, only five interventional trials (published between 2012 and 2023) specifically targeting childhood blindness met the inclusion criteria and were therefore included. Key trial characteristics studied conditions, intervention types, outcome measures, study phases, and enrollment sizes were extracted and analyzed descriptively.

Results: Across the five included trials, a majority of trials investigated rare genetic conditions, including Leber Congenital Amaurosis, Wolfram Syndrome, and Osteoporosis Pseudoglioma. On interventions, the most commonly used approaches for handling childhood blindness include gene therapy vectors like AAV RPE65, antisense oligonucleotides like QR-110, and repurposed pharmacological agents such as lithium and dantrolene sodium. All studies included children within their target populations, and most were early-phase (Phase 1/2) trials with small sample sizes (11-26 participants). Primary outcomes focused on safety, while secondary outcomes assessed visual function and biochemical changes.

Conclusion: Although limited in number, current clinical trials represent a promising shift toward targeted therapies for childhood blindness. The dominance of early-phase studies highlights the need for expanded, multicenter, and later-phase trials. Future research should aim to improve trial accessibility, standardize outcome measures, and ensure ethical conduct in pediatric populations.