Evaluation of effectiveness of plasma lyso-Gb3 analogues as biomarker for diagnosing of Fabry disease

Evaluation of effectiveness of plasma lyso-Gb3 analogues as biomarker for diagnosing of Fabry disease - Evaluation of effectiveness of plasma lyso-Gb3 analogues as biomarker for diagnosing of Fabry disease

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

JPRN

Registry ID

JPRN-UMIN000036465

Enrollment

100

Registered

2019-04-11

Start date

2019-04-15

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

All

Inclusion criteria

Inclusion criteria: 1 Patients suspected of having classic Fabry disease: Patients with classic early manifestations, such as acroparesthesia, clustered angiokeratoma, and cornea verticillata 2 Patients suspected of having late-onset Fabry disease: Patients suspected of having Fabry disease by possessing pathologic findings consistent with Fabry disease in kidney biopsy, endomyocardial biopsy or biopsy of other organs 3 Relatives of Fabry disease patients 4 The patients by whom a mulberry body or cell is detected in the urine

Exclusion criteria

Exclusion criteria: Patients have pathogenic GLA mutation and already diagnosed as Fabry disease should be excluded.

Design outcomes

Primary

Measure	Time frame
Plasma lyso-Gb3 concentration Plasma lyso-Gb3 analogues [lyso-Gb3(-28), lyso-Gb3(-2), lyso-Gb3(+16), lyso-Gb3(+18), lyso-Gb3(+34), lyso-Gb3(+50)] concentration Plasma GLA activity GLA analysis Clinical features	—

Countries

Japan

Contacts

Public ContactHiroki Maruyama

Niigata University Graduate School of Medical and Dental Sciences Department of Clinical Nephroscience

hirokim@med.niigata-u.ac.jp025-227-0436

Outcome results