Age-related progression of clinical symptoms and the importance of early intervention in 100 heterozygous females with Fabry disease

Age-related progression of clinical symptoms and the importance of early intervention in 100 heterozygous females with Fabry disease - Clinical symptoms in heterozygous females with Fabry disease

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

JPRN

Registry ID

JPRN-UMIN000060555

Enrollment

100

Registered

2026-02-02

Start date

2019-02-01

Completion date

Unknown

Last updated

2026-06-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Fabry disease

Interventions

None listed

Eligibility

Sex/Gender

Female

Inclusion criteria

Inclusion criteria: Female patients with Fabry disease were enrolled in three groups based on their age at first diagnosis: Group 1 (under 29 years old), Group 2 (30 to 49 years old), and Group 3 (over 50 years old).

Exclusion criteria

Exclusion criteria: excluding those with the E66Q mutation

Design outcomes

Primary

Measure	Time frame
One hundred female patients (excluding those with the E66Q mutation) were categorized into three groups based on age at initial diagnosis. Group 1 (le 29 years), group 2 (30 to 49 years), and group 3 (ge 50 years). Renal and cardiac functions were retrospectively and prospectively evaluated.	—

Countries

Japan

Contacts

Public ContactKAZUYA TSUBOI

Nagoya Central Hospital Lysosomal Storage Disease Center

tsuboi1192@gmail.com+81-52-452-3165

Outcome results