Natural History Study Tracking Vision Changes in Patients with Zellweger Spectrum Disorder

What this Trial Is About

This research aims to understand how retinal degeneration progresses in patients with Zellweger Spectrum Disorder ZSD. The study will evaluate which tests best track this progression and gather information to predict vision loss in this patient group. It is an observational study focused on following participants over time to learn more about their eye health related to ZSD. Participants will take part in yearly visits where they will complete vision-related questionnaires and undergo a wide range of vision tests. These tests include refraction, visual acuity, contrast sensitivity, visual fields, color vision, eye exams, pupil dilation, microperimetry, fundus photography, optical coherence tomography, and others that assess different aspects of retinal health and function. Blood samples will also be taken to analyze peroxisome function. Before the first visit, a virtual interview will help determine which tests each participant can perform. During the study, participants will be evaluated annually with detailed eye exams and questionnaires about their functional vision. Researchers will collect medical history and conduct physical exams and blood tests to support their assessments. The main outcomes measured over five years include the number of participants showing retinal degeneration progression and common patterns observed. The study will provide financial support for travel and accommodation to attend these visits, with the total study duration spanning multiple years to monitor changes over time.

Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder