Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder

Conditions

• Zellweger Spectrum Disorder

Eligibility Criteria

Sex

ALL

Age

N/A - N/A

Healthy Volunteers

Not accepted

Study Details

The goal of this observational study is to define the course of the retinal degeneration in a ZSD patient cohort. The objective of this study is to gather information so the investigators can: 1. define the course of the retinal degeneration in a ZSD patient cohort with retinal degeneration 2. define what tests best monitor the progression of the retinal degeneration 3. generate prognostic information about vision loss in ZSD. At each yearly visit, the participants will answer a functional vision questionnaire, have a physical evaluation, blood test, and participate in a variety of vision tests. The investigators will also collect pertinent medical history. Participants will travel to study site. The study will provide financial support for board and travel.

Key Dates

Start date

Dec 18, 2023

Status verified

Jan 2026

Primary completion

Jan 1, 2029

Completion

Jan 1, 2029

Study Design

Enrollment

30 participants (estimated)

Primary Outcome Measure

Number of participants with disease progression [ Time Frame: 5 years ]

Central Contacts

• Nancy E Braverman, MD, MS
  514-934-1934
  [email protected]
• Frederique Arnaud, BScN
  514-934-1934
  [email protected]

Locations (1)

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