Exspanding the Knowledge About TNPO2-Associated Disorders

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.

NCT Number	NCT07699510
Lead Sponsor	Charite University, Berlin, Germany
Conditions	TNPO2
Enrollment	50 participants
Start Date	2026-06-01
Primary Completion	2036-06-30 (estimated)
Study Completion	2036-12-31 (estimated)
Updated on ClinicalTrials.gov	2026-07-13