NCT07699510

Brief Summary

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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
50

participants targeted

Target at P25-P50 for all trials

Timeline
127mo left

Started Jun 2026

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress2%
Jun 2026Dec 2036

Study Start

First participant enrolled

June 1, 2026

Completed
1 month until next milestone

First Submitted

Initial submission to the registry

July 2, 2026

Completed
11 days until next milestone

First Posted

Study publicly available on registry

July 13, 2026

Completed
10 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 30, 2036

Expected
6 months until next milestone

Study Completion

Last participant's last visit for all outcomes

December 31, 2036

Last Updated

July 13, 2026

Status Verified

July 1, 2026

Enrollment Period

10.1 years

First QC Date

July 2, 2026

Last Update Submit

July 8, 2026

Conditions

TNPO2

Keywords

TNPO2

Outcome Measures

Primary Outcomes (1)

  • intelligence quotient

    Developmental Outcome using standardized testing (BAYLEY III or WISC-V)

    10 years

Secondary Outcomes (2)

  • Psychiatric disorders

    10 years

  • Functional anaylsis of variants

    2 years

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

All patients with variants in the TNPO2 gene.

You may qualify if:

  • TNPO2 variant

You may not qualify if:

  • no consent

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Charité- Universitätsmedizin Berlin

Berlin, State of Berlin, 13353, Germany

RECRUITING

Biospecimen

Retention: SAMPLES WITHOUT DNA

PBMCs can be included from the patients.

Central Study Contacts

Lena-Luise Becker, Dr. med.

CONTACT

0049 30 450 566 112lena-luise.becker@charite.de

Angela M. Kaindl, Prof. Dr.

CONTACT

0049 30 450 566112angela.kaindl@charite.de

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Target Duration
10 Years
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Principal Investigator

Study Record Dates

First Submitted

July 2, 2026

First Posted

July 13, 2026

Study Start

June 1, 2026

Primary Completion (Estimated)

June 30, 2036

Study Completion (Estimated)

December 31, 2036

Last Updated

July 13, 2026

Record last verified: 2026-07

Data Sharing

IPD Sharing
Will not share

Locations

DE(1)