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Exspanding the Knowledge About TNPO2-Associated Disorders
Sponsor: Charite University, Berlin, Germany
Summary
The Target-TNPO2 is an international, multicenter observational registry designed to collect comprehensive clinical, genetic, neurodevelopmental, and longitudinal data from individuals with pathogenic or likely pathogenic variants in the TNPO2 gene. This aids to improve the knowledge and clinical progression on TNPO2-associated disorders. The investigators further aim to provide new insides into the pathomechanism of TNPO2 variants using blood samples.
Official title: Development of New Therapeutic Approaches for TNPO2-Associated Disorders
Key Details
Gender
All
Age Range
Any - Any
Study Type
OBSERVATIONAL
Enrollment
50
Start Date
2026-06-01
Completion Date
2036-12-31
Last Updated
2026-07-13
Healthy Volunteers
No
Conditions
Locations (1)
Charité- Universitätsmedizin Berlin
Berlin, State of Berlin, Germany