UK team seeks to boost diagnoses of Fabry in underrepresented groups

Researchers working to identify, address barriers to timely diagnosis, treatment

Lindsey Shapiro, PhD avatar

by Lindsey Shapiro, PhD |

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Researchers in England are working toward identifying and addressing barriers to reaching a Fabry disease diagnosis among underrepresented communities, particularly within ethnic minority and low socioeconomic status groups.

The project is spearheaded by Richard Steeds, MD, a professor at the University of Birmingham and consultant cardiologist at University Hospitals Birmingham. Amicus Therapeutics, developer of approved Fabry disease therapy Galafold (migalastat), will provide some funding for the project.

“If we can address these barriers, then we can support more people to benefit from beginning treatment for this rare condition sooner,” Steeds said in a university press release.

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Early diagnosis, treatment key to slowing disease progression

As with most progressive diseases, early treatment of Fabry disease is key for slowing disease progression and offering patients better outcomes. Approved therapies, including enzyme replacement therapy and chaperone therapy, can help to slow the progression of organ damage and ease Fabry symptoms.

To start treatment early requires a prompt diagnosis. Since Fabry disease is inherited, family screening is a critical tool for catching cases early on.

However, because Fabry disease is quite rare, it is easily missed. Patients commonly experience diagnostic delays or are misdiagnosed with more recognizable conditions. Indeed, research suggests the disease remains significantly underdiagnosed.

Such issues may be amplified among minority ethnic groups, despite the fact that Fabry disease is found roughly equally in all racial and ethnic groups. Language barriers, low health literacy, and cultural and other factors within minority communities may contribute to stigma that makes individuals less likely to seek care or family screening.

In turn, patients may be diagnosed later and have worse health outcomes, contributing further to health inequities in these groups.

“Previous work has shown that Black, South Asian, and other minority ethnic groups, as well as patients from lower socioeconomic groups, are underrepresented in our clinic in Birmingham, despite it being a very diverse city,” Steeds noted.

“This knowledge helped us to identify a need for further research to understand and overcome specific barriers to family screening that are more prevalent within minority ethnic groups.”

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Advisory groups to help researchers better understand barriers patients face

To address these disparities, the team is working on building advisory groups consisting of community leaders, healthcare professionals, and patients from Black, South Asian, and other minority groups.

The goal is for these groups to help the researchers better understand the barriers patients face and what strategies could be used to overcome them.

“Working with members of different community groups is essential to making this work,” Steed said.

Ultimately, the goal is to boost the screening and diagnosis of Fabry disease in these underrepresented communities.

Once they’ve identified possible approaches to do so via the advisory groups, the scientists will test them out in their home city of Birmingham, but they’ll first need to secure additional funding.