Patients report ongoing symptoms, treatments affect their life quality

Fabry disease places burden on patients despite available treatments: Survey

Marisa Wexler, MS avatar

by Marisa Wexler, MS |

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Despite available treatments, many people with Fabry disease still experience symptoms that can affect their quality of life, a new study highlights.

The findings “may be helpful for healthcare providers and drug developers seeking to improve the care of patients with [Fabry disease] by addressing unmet needs,” researchers wrote in the study “Patient-reported experience with Fabry disease and its management in the real-world setting: results from a double-blind, cross-sectional survey of 280 respondents,” which was published in the Orphanet Journal of Rare Diseases.

The work was funded by Chiesi, which markets Elfabrio (pegunigalsidase alfa-iwxj), an enzyme replacement therapy (ERT) for Fabry that was approved in the U.S. in 2023, after this study was conducted.

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280 adults with Fabry surveyed about their experiences, treatments

A team of researchers at Chiesi and other institutions conducted a survey of 280 adults with Fabry disease to better understand their experiences living with the genetic condition and dealing with available Fabry treatments.

The survey respondents ranged in age from 18 to 77 years, about two-thirds were female, and more than 80% were actively on treatment. Among patients on treatment, the vast majority were specifically taking the ERT Fabrazyme (agalsidase beta), while the rest were either taking the oral chaperone therapy Galafold (migalastat) or another ERT called agalsidase alfa which isn’t available in the U.S. but is sold in Canada under the name Replagal.

The scientists noted that patients not on treatment were more likely to be female than male. This highlights “a need to address potential gender disparities to ensure equitable access to recommended treatment for all patients,” the researchers said.

The most common Fabry symptoms included fatigue, tingling or pain in the hands and/or feet, hearing problems such as ringing in the ears, and general body pain, all of which were reported by more than half of the survey respondents.

“The findings of this survey suggest that despite current standard-of-care treatments, patients with [Fabry disease] continue to experience symptoms, which may negatively impact [quality of life],” the researchers wrote, highlighting “an unmet need for earlier diagnosis and treatment initiation among patients with [Fabry disease] to prevent adverse sequelae [or consequences] that develop over time and demonstrates a need for new therapeutic options.”

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ERT infusions can last up to 3 hours or more for some patients

ERTs, which act to deliver a functional version of the enzyme that is defective in Fabry, are administered by infusions into the bloodstream. Among patients who’d been on enzyme replacement therapy, the reported duration for each infusion ranged from 30 minutes up to eight hours, with 40% of patients reporting infusion times of three hours or more.

Also of note, about half of the patients on enzyme replacement reported their symptoms tended to worsen between scheduled infusions, with many saying worsening between infusions affected their life quality.

“These observations raise questions about how ongoing symptoms, and in particular symptoms between treatments, are being managed and highlight a potential opportunity to improve patient care,” the researchers wrote.

Among the survey respondents, 29 patients had been on ERTs previously but were no longer on them at the time of the survey. These patients highlighted the length of infusions as well as problematic infusion reactions as reasons for stopping ERT, which the researchers said indicates “barriers to existing ERT treatments that newer treatments should aspire to overcome.”