Exspanding the Knowledge About TNPO2-Associated Disorders
ConditionTNPO2
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorCharite University, Berlin, Germany
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.
TNPO2 variant
no consent