Fabry Disease Insights

Fabry Disease Coexists with Thin Basement Membrane Nephropathy

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Latest Research

Researchers are using deep learning to assess retinal microvasculature in Fabry disease, aiming to correlate retinal patterns with disease biomarkers and cerebral small vessel disease lesions. This approach could provide new insights into the disease's impact on the body.

By linking retinal findings with broader disease markers, researchers may uncover more about how Fabry disease affects the body. This non-invasive method could lead to better monitoring and management strategies for patients. The study highlights the potential of advanced technologies in understanding vascular aspects of the disease (Li et al., 2025).

Clinical Trials

This is a list of upcoming or ongoing clinical trials that are actively recruiting and have been listed or updated in the last two weeks:

Community News

National Fabry Disease FoundationNational Fabry Disease FoundationApr 03, 2025

Women who have one pathogenic variant (aka mutation) in their GLA gene may have been considered ONLY carriers in the past, but this is OUTDATED INFORMATION.

We now know that most females with Fabry disease exhibit symptoms and require routine monitoring and consideration of treatment.

The referenced article by Dr. Wang et al was groundbreaking in 2007, and changed the way we think about females with Fabry disease.

Reference: https://pubmed.ncbi.nlm.nih.gov/17224688/

National Fabry Disease Foundation Post
National Fabry Disease FoundationNational Fabry Disease FoundationApr 01, 2025

Fabry Disease Awareness Ribbon for open use.

Fabry International NetworkFabry International NetworkApr 01, 2025

April is Fabry Awareness Month and we are celebrating the Pioneers of Fabry Care

This Fabry Awareness Month, we honor the doctors who made a difference early on in understanding and treating Fabry Disease. Their expertise and compassion have been instrumental in shaping countless lives.

Let’s celebrate their work and highlight the powerful connection between patients and physicians that drives better care and outcomes. #FabryHero

Fabry International Network Post