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
This trial does not accept healthy volunteersQualifiers
TNPO2 variant
Disqualifiers
no consent
Trial population
All patients with variants in the TNPO2 gene.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
No trial groups listed
Trial outcomes
Primary outcomes
1
intelligence quotient
Developmental Outcome using standardized testing (BAYLEY III or WISC-V)
Time frame
10 yearsSecondary outcomes
1
Psychiatric disorders
Number of patients with a psychiatric disorders
Time frame
10 years2
Functional anaylsis of variants
Number of gain-of-function variants in cohort
Time frame
2 yearsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Source ClinicalTrials.gov