Comparing How Men and Women With Fabry Disease Move Through Care

AI summary

From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.

The trial is looking for adults who have been diagnosed with Fabry's disease. It compares the care pathways of men and women through a questionnaire.

Age

18 years or older

Sex

Men and women can join.

Disease stage

Diagnosed Fabry's disease; no stage is named.

Main reasons for not taking part

• Minors (under 18 years)

The registry criteria, word for word

What the trial wants to find out

Fabry's disease is an X-linked disorder that manifests differently in men and women, leading to differences in healthcare pathways. In women, the disease is sometimes diagnosed through family screening despite the presence of symptoms (symptoms appear later than in men, and the phenotypic expression of the disease is sometimes more subtle). Conversely, in men, the presence of symptoms combined with abnormalities in medical examinations facilitates diagnosis. There is limited data on the differences in healthcare pathways between men and women, which could nevertheless impact diagnosis by identifying a profile of at-risk patients, and consequently, their management.

The group in the trial

• Fabry's disease patients

  Male and female patients with Fabry's disease diagnosed by the presence of symptoms or following family screening

  Treatment: Self-questionnaire