Exspanding the Knowledge About TNPO2-Associated Disorders

ConditionTNPO2
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorCharite University, Berlin, Germany

About this trial

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.

Eligibility criteria

Qualifiers

TNPO2 variant

Disqualifiers

no consent

Trial design

Treatments tested in this trial

  • Not listed

Trial groups

No trial groups listed