The role of renal tubular epithelial cells in the progression of chronic kidney disease in Morbus Fabry

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00012943

Enrollment

Registered

2017-09-11

Start date

2017-10-01

Completion date

Unknown

Last updated

2025-04-07

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

Conditions

The study aims to investigate subcellular pathomechanisms leading to onset and progression of chronic kidney disease in male patients suffering from Fabry's disease. E75.2 N17-N19

Interventions

Group 1: Healthy male controls aged 3-65 years without any renal pathologies will be compared to male patients suffering from Fabry's disease. Arm 1 consists of male patients suffering from Fabry's di

Eligibility

Sex/Gender

Male

Age

3 Years to 65 Years

Inclusion criteria

Inclusion criteria: Confirmation of Fabry's disease by enzymatic / molecular gentic investigation.

Exclusion criteria

Exclusion criteria: Kidney disease / potential risk factor suspected to be associated with kidney disease.

Design outcomes

Primary

Measure	Time frame
Establishment and characterization of human renal epithelial cell lines derived from male patients suffering from Fabry's disease and healthy controls.	—

Secondary

Measure	Time frame
Differences in mitochondrial energy metabolism and the autophagic pathway in healthy male controls and patients suffering from Fabry's disease.	—

Countries

Germany

Contacts

Public ContactAnke Schumann

Zentrum für Kinder- und JugendmedizinAbteilung Stoffwechsel

anke.schumann@uniklinik-freiburg.de0049-761-270 43000

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 4, 2026