The Alagille Syndrome Alliance, the world’s largest patient advocacy group for this condition (https://alagille.org), is spearheading an observational study aimed at characterizing eye phenotypes and their relative prevalence in patients with Alagille syndrome (ALGS) in close partnership with Dr. Ken K. Nischal, Chief of the Division of Pediatric Ophthalmology and Strabismus at UPMC, Pittsburgh, and Dr. Mariana Matioli Da Palma, ophthalmologist and vitreoretinal surgeon at the Instituto Tadeu Cvintal in Sao Paulo, Brazil. ALGS is a rare genetic disorder that affects multiple organ systems, including the eyes. While previous research has identified a number of ocular manifestations, a comprehensive understanding of the full spectrum of eye phenotypes and their relative prevalence is lacking. In this questionnaire we are assessing the feasibility of conducting a study to gather these insights by gauging your interest in participating.
Study Objectives:
- To identify and characterize the range of eye phenotypes in patients with Alagille syndrome.
- To determine the prevalence of specific eye conditions within this population.
- To generate guidelines for ophthalmological screening in ALGS.
Your Participation:
As a participating ophthalmologist, you would be asked to:
- Identify and enroll eligible patients with a confirmed diagnosis of Alagille syndrome and provide detailed genetic testing results if available.
- Capture and report patients’ medical history and symptoms specifically for the eye.
- Collect comprehensive ophthalmic examination data, preferably including but not absolutely requiring:
o Best-corrected visual acuity,
o Slit lamp exam,
o Iris transillumination,
o Gonioscopy,
o Intraocular pressure,
o Color vision,
o Visual field,
o Fundus photograph with autofluorescence (preferably wide field),
o OCT with autofluorescence (macula and optic nerve),
o Ultrasound (elevated optic disc),
o Fluorescein angiography,
o If available, electrophysiology: ffERG.
- Provide de-identified patient data to the study investigators by uploading them to a HIPAA-compliant database.
Benefits of Participation:
- Contribute to advancing the understanding of Alagille syndrome and its ocular manifestations.
- Collaborate with other ophthalmologists and researchers in the field.
- Co-authorship on a publication of the results of this study.
- Potentially identify existing therapeutics for eye conditions that could be indicated for Alagille syndrome.
Data Privacy and Confidentiality:
All patient information will be handled with the utmost confidentiality and in accordance with relevant data privacy regulations.
If you are interested in participating in this study and would like to learn more, please complete this poll and provide your contact details.