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. 2024 Apr 11;19(1):153.
doi: 10.1186/s13023-024-03090-4.

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

Lisa Berry  1 , Jerry Walter  2 , Jack Johnson  3 , Julia Alton  4 , Janet Powers #  5 , Xavier Llòria  6 , Irene Koulinska  7 , Meghan McGee  7 , Dawn Laney  8
Affiliations

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

Lisa Berry et al. Orphanet J Rare Dis. .

Abstract

Background: Fabry disease (FD) is a rare X-linked lysosomal storage disorder with a heterogeneous clinical presentation. Patients with FD may exhibit early signs/symptoms including neuropathic pain, gastrointestinal complaints, and dermatologic manifestations. FD may ultimately progress to renal, neurologic, and cardiac dysfunction. Current treatments for FD have significantly improved the management and outcomes for patients with FD, but important clinical and convenience limitations still exist.

Methods: To illuminate the impact of FD on daily life from the patient's perspective, we asked adult patients (≥ 18 years old) with FD in the United States and Canada to complete a 33-question online survey to assess patient-reported disease severity, management, and treatment outcomes.

Results: A total of 280 respondents with FD completed the survey; they had a mean age of 47 years, and 68% (191/280) were women. Most were currently receiving FD treatment (84%, 234/280) with enzyme replacement therapy (ERT) (89%, 208/234) or chaperone therapy (11%, 26/234). Common symptoms included low energy/fatigue (72%, 201/280), tingling (62%, 174/280) or pain in the hands/feet (60%, 168/280), ringing in ears/hearing loss (54%, 151/280), general body pains/pain crises (51%, 143/280), and abdominal/stomach pain (50%, 140/280). More than half (51%, 144/280) of respondents reported their symptoms as bothersome (38%, 106/280) or difficult to control (14%, 38/280). Temporary symptom worsening between infusions was reported by about half of respondents: 51% (108/211) currently receiving ERT and 48% (14/29) previously receiving ERT. Only 48% (59/122) of respondents reported their symptom worsening to their physician. Of those who reported it, 41% (24/59) said that their physician prescribed medication to manage their symptoms or changed their treatment regimen.

Conclusions: Our analysis highlights the gap between current standard-of-care in disease monitoring and patient perception of disease progression among patients with FD. This information may be helpful for healthcare providers and drug developers seeking to improve the care of patients with FD by addressing unmet needs of high relevance.

Keywords: Chaperone therapy; Enzyme replacement therapy; Fabry disease; Patient experience; Patient-reported outcome; Rare disease.

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Conflict of interest statement

Lisa Berry: Speaker’s Bureau for Sanofi; and has been a consultant for Chiesi (in the past year), Orphazyme, and Amicus Therapeutics (not in the past year). Jerry Walter: Nothing to disclose. Jack Johnson: Full-time employee of Fabry Support & Information Group. Julia Alton: Nothing to disclose. Janet Powers: Full-time employee of Research Partnership at time of publication. Xavier Llòria: Full-time employee of Chiesi Global Rare Diseases, Parma, Italy. Irene Koulinska and Meghan McGee: Full-time employees of Chiesi USA, Inc., Boston, MA, USA. Dawn Laney: Chair of the North American Fabry Registry Board; cofounder of ThinkGenetic Inc.; has grant funding from Sanofi-Genzyme and Amicus therapeutics; has received honoraria for consulting agreements with Chiesi, Spark Therapeutics, Sanofi-Genzyme, Takeda, Protalix, and Amicus Therapeutics.

Figures

Fig. 1
Fig. 1
Overview of the Fabry Disease Survey. ADA, antidrug antibodies; ERT, enzyme replacement therapy; FD, Fabry disease
Fig. 2
Fig. 2
Fabry disease symptom severity. ERT, enzyme replacement therapy; FD, Fabry disease
Fig. 3
Fig. 3
Monitoring frequency for kidney and heart function. (A) Kidney function. (B) Heart function. ERT, enzyme replacement therapy; FD, Fabry disease
Fig. 4
Fig. 4
Burden of ERT: Infusion duration reported by respondents currently or previously receiving ERT (N = 240). ERT, enzyme replacement therapy
Fig. 5
Fig. 5
Symptoms reported by respondents who experienced symptom worsening between ERT infusions (N = 122). ERT, enzyme replacement therapy
See this image and copyright information in PMC

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