Invitation to Participate in an Observational Study in Alagille Syndrome
Characterizing Eye Phenotypes in Alagille Syndrome (ALGS)
We are writing to gauge your interest in participating in an observational study aimed at characterizing eye phenotypes and their relative prevalence in patients with Alagille syndrome (ALGS). ALGS is a rare genetic disorder affecting multiple organ systems, including the eyes. While various ocular manifestations have been identified, a comprehensive understanding of the full spectrum and frequencies is still lacking.
Conducted by
Alagille Syndrome Alliance — the world’s largest patient advocacy group for ALGS. alagille.org
In collaboration with
Dr. Ken K. Nischal, Chief, Division of Pediatric Ophthalmology & Strabismus, Children’s Hospital of Pittsburgh of UPMC. Dr. Mariana Matioli Da Palma, Ophthalmologist & Vitreoretinal Surgeon, Instituto Tadeu Cvintal, São Paulo, Brazil.
Study Objectives
- Identify and characterize the range of eye phenotypes in patients with ALGS.
- Determine the prevalence of specific eye conditions within this population.
- 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 ALGS and provide detailed genetic testing results if available.
- Capture and report patients’ medical history and ocular symptoms.
- Collect comprehensive ophthalmic examination data (preferably including, but not limited to):
View the comprehensive data checklist
- Best-corrected visual acuity
- Slit lamp exam
- Iris transillumination
- Gonioscopy
- Intraocular pressure
- Color vision
- Visual field
- Fundus photograph with autofluorescence (preferably wide field)
- OCT with autofluorescence (macula and optic nerve)
- Ultrasound (elevated optic disc)
- Fluorescein angiography
- If available, electrophysiology: ffERG
- Provide de-identified patient data to the study investigators by uploading them to a HIPAA-compliant database.
Benefits of Participation
- Advance understanding of ALGS ocular manifestations.
- Collaborate with ophthalmologists and researchers in the field.
- Co-authorship on a publication reporting study results.
- Potentially identify existing therapeutics for eye conditions that could be indicated for ALGS.
Data Privacy & Confidentiality
All patient information will be handled with the utmost confidentiality and in accordance with relevant data privacy regulations. Only de-identified data will be shared with study investigators via a HIPAA-compliant platform.
Interested or Have Questions?
Please reach out using the contact details below.
Thank you for your time and consideration.
Karsten Baumgaertel, PhD Scientific Research Coordinator Alagille Syndrome Alliance — alagille.org
