Addressing gaps in standard of care may improve treatment for adults with Fabry disease
Click Here to Manage Email Alerts
Key takeaways:
- Common symptoms reported by patients included low energy and fatigue.
- Overall, 62% of patients reported tingling in the hands or feet.
Addressing disparities in standard of care in disease monitoring and perception of disease progression could improve treatment for adults with Fabry disease, according to published data.
“Treatments for Fabry disease have improved the management and outcomes for patients, but important clinical and convenience limitations still exist,” lead author Lisa Berry, LGC, of the division of human genetics at Cincinnati Children's Hospital Medical Center, said in a press release. The study showed a gap in the current care of patients with Fabry disease.
Researchers conducted a double-blind, cross-sectional survey of 280 patients with Fabry disease to evaluate their daily experience and management of the condition. Participants in United States and Canada completed a 33-question online survey on disease severity, management and treatment outcomes. Mean age was 47 years, and women were 68% of the group. Most patients (84%) were already receiving treatment, with 89% of patients undergoing enzyme replacement therapy and 11% on chaperone therapy, according to the results.
Common symptoms were low energy or fatigue, with 72% or patients experiencing this effect, according to the study. Overall, 62% of patients reported tingling in the hands or feet; 60% reported pain in the hands or feet; 54% experienced ringing in the ears or hearing loss; 51% had general body pains or crises; and 50% had abdominal or stomach pain. More than half of respondents (51%) described their symptoms as bothersome (38%) or difficult to control (14%), the researchers wrote.
Additionally, 51% of patients had temporary symptom worsening between enzyme replacement therapy infusions; 48% reported symptom worsening to a physician. Of patients who did report it, researchers found 41% were prescribed medication to manage worsening symptoms or made changes to their treatment regimen.
“There continues to be a general lack of awareness and a limited appreciation of the numerous unique challenges that rare disease patients face every day, including those who are living with Fabry disease,” Giacomo Chiesi, head of Chiesi Global Rare Diseases, said in the release “We are focused on putting patients at the center of everything we do, and we must understand the impact of Fabry disease on daily life from the patient's perspective. The results of this survey will help us partner with health care providers to improve the care of patients with Fabry disease by addressing their most relevant unmet needs.”
Reference:
Chiesi Global Rare Diseases announces publication of results from phase 3 balance study in Fabry disease. https://www.chiesi.nl/chiesi-global-rare-diseases-announces-publication-of-results-from-phase-3-balance-study-in-fabry-disease/. Published Jan. 23, 2024. Accessed May 5, 2024.
Collapse
Click Here to Manage Email Alerts