TNPO2-related disorders registry

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This is an international, multicenter observational registry designed to collect comprehensive clinical, genetic, neurodevelopmental, and longitudinal data from individuals with pathogenic or likely pathogenic TNPO2 variants. The study aims to advance understanding of the disease spectrum, progression, and potential mechanisms by analyzing collected data and biospecimens. No intervention is required, and participation consists of providing consent and sharing medical information over time. Researchers hope to illuminate how TNPO2 variants influence brain development and related clinical features. The project is centered at Charité University Medicine Berlin, with collaboration from international sites as identified.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* TNPO2 variant

Exclusion Criteria:

* no consent

Where it's running

• Charité- Universitätsmedizin Berlin
  Berlin, State of Berlin, Germany Recruiting

Study contacts

• Study coordinator: Lena-Luise Becker, Dr. med.
• Email: lena-luise.becker@charite.de
• Phone: 0049 30 450 566 112

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.