Clinical and molecular investigations into PGAP1-CDG

Clinical and molecular investigations into PGAP1-CDG - PGAP1 study

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00036064

Enrollment

Registered

2025-02-06

Start date

2025-02-24

Completion date

Unknown

Last updated

2025-11-24

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

Conditions

PGAP1-CDG and other GPI anchor disorders ORPHA:401820 G11.4

Interventions

Group 1: Patients with a genetic diagnosis of PGAP1-CDG and patients with a genetic diagnosis of another GPI anchor disorder. These patients will be seen once to collect the following parameters: -

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: Genetically diagnosed GPI anchor disease (e.g. PGAP1-CDG)

Exclusion criteria

Exclusion criteria: Lack of a definitive genetic diagnosis of a GPI anchor disorder

Design outcomes

Primary

Measure	Time frame
Objective of the study: Observation of the natural course of PGAP1-CDG, establishment of biomarkers and effective therapies for PGAP1-CDG and other GPI anchor disorders.	—

Secondary

Measure	Time frame
see above (purely observational study)	—

Countries

Germany

Contacts

Public ContactChristin Johnsen

Universitätsmedizin Göttingen, Klinik für Kinder- und Jugendmedizin

christin.johnsen@med.uni-goettingen.de+49551390

Outcome results

None listed

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