Is there a relation between the P blood group status and Fabry disease severity?

Is there a relation between the P blood group status and Fabry disease severity? - P blood group and Fabry disease

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON39730

Enrollment

Registered

2013-01-17

Start date

2013-02-26

Completion date

Unknown

Last updated

2024-04-29

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

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: 1. The healthy volunteer is willing and able to provide signed informed consent prior to study-related procedures. 2. The healthy volunteer is >=18 years of age.

Exclusion criteria

Exclusion criteria: 1. Use of anticoagulants (e.g. vitamin K antagonist)

Design outcomes

Primary

Measure	Time frame
Part one: amount of mRNA of GB3 synthase as measured by RT-PCR on fibroblast and white blood cells and GB3 amount as measured by HPLC. Part two: correlation between plasma lyso (GB3) and P blood group status, Fabry disease severity as measured by FOS-SSI and age at onset of first clinical event by Kaplan Meier analysis.	—

Countries

Netherlands

Outcome results