Evidence map›Paper›PMID 38605390›Full record

ArticleOrphanet journal of rare diseases2024

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, Jerry Walter, Jack Johnson, Julia Alton, Janet Powers, Xavier Llòria, Irene Koulinska, Meghan McGee, Dawn Laney

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.3field-weighted citation impact, top 21% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 4 citations in OpenAlex.

  1. Review
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  5. Trial Readiness: Understanding the Natural History of Rare Diseases.Journal of inherited metabolic disease · 2025
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 6 institutions in 2 countries.

Lisa BerryCincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Jerry WalterNational Fabry Disease Foundation, Hillsborough, NC, USA.
Jack JohnsonFabry Support & Information Group, Concordia, MO, USA.
Julia AltonCanadian Fabry Association, Thunder Bay, ON, Canada.
Janet Powers *MedPanel, Inc., Waltham, MA, USA.
Xavier LlòriaChiesi Global Rare Diseases, Parma, Italy.
Irene KoulinskaChiesi USA, Inc., Boston, MA, USA.
Meghan McGeeChiesi USA, Inc., Boston, MA, USA.
Dawn LaneyEmory University School of Medicine, Atlanta, GA, USA. dawn.laney@emory.edu.ORCID 0000-0001-8344-8078
Chiesi (United States) · USChiesi (Italy) · ITCincinnati Children's Hospital Medical Center · USConcordia University Wisconsin · USEmory University · USPAREXEL International (United States) · US

Funding

Chiesi USA, Inc. Chiesi USA, Inc.
6 · The paper itself

Abstract

backgroundFabry 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.

methodsTo 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.

resultsA 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.

conclusionsOur 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.

Indexed as

Fabry Diseasealpha-GalactosidaseCanadaCross-Sectional StudiesEnzyme Replacement TherapyFemaleHumansMaleMiddle AgedNorth American PeoplePainPatient Reported Outcome MeasuresSurveys and QuestionnairesSymptom Flare UpUnited Statesalpha-GalactosidaseChaperone therapyEnzyme replacement therapyFabry diseasePatient experiencePatient-reported outcomeRare disease

Identifiers

PMID38605390
PMCPMC11007961
OpenAlexW4394719784

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.