Exspanding the Knowledge About TNPO2-Associated Disorders
NCT07699510 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 50
Last updated 2026-07-13
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.
Conditions
- TNPO2
Sponsors & Collaborators
-
Charite University, Berlin, Germany
lead OTHER
Eligibility
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2026-06-01
- Primary Completion
- 2036-06-30
- Completion
- 2036-12-31
Countries
- Germany
Study Locations
More Related Trials
-
Natural History Study and Establishment of a Biorepository-TANGO2-related Disorder
NCT05374616 ·Status: RECRUITING
-
Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases
NCT03491280 ·Status: UNKNOWN
-
Pediatric Patients With Metabolic or Other Genetic Disorders
NCT02769949 ·Status: COMPLETED
-
STXBP1 and SYNGAP1 Related Disorders Natural History Study
NCT06555965 ·Status: RECRUITING
-
Observational Study of Advanced Data Analytics in Genetic Conditions
NCT05657405 ·Status: RECRUITING
-
Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants
NCT05589714 ·Status: RECRUITING
-
Study of Clinical and Molecular Manifestations of Genetic Disorders
NCT00001466 ·Status: COMPLETED
-
Whole Genome Trio Sequencing as a Standard Routine Test in Patients With Rare Diseases - "GENOME FIRST APPROACH"
NCT03954652 ·Status: COMPLETED ·Phase: NA
-
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
NCT02450851 ·Status: RECRUITING
-
Studies in Patients With Tuberous Sclerosis Complex
NCT03276195 ·Status: COMPLETED
-
Finding Genes for Rare Diseases
NCT02724995 ·Status: WITHDRAWN
-
Gene Discovery Core, The Manton Center
NCT02743845 ·Status: RECRUITING
-
Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations
NCT02461446 ·Status: ACTIVE_NOT_RECRUITING
-
Genetics of Primary Ciliary Dyskinesia
NCT02389049 ·Status: COMPLETED
-
Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing
NCT02509650 ·Status: UNKNOWN
-
Microcephaly Genetic Deficiency in Neural Progenitors
NCT01565005 ·Status: COMPLETED
-
Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder
NCT06776341 ·Status: RECRUITING
-
Diagnostic and Screening Study of Genetic Disorders
NCT00006057 ·Status: COMPLETED
-
A Registry to Determine the Clinical and Genetic Risk Factors for Torsade De Pointes
NCT02439645 ·Status: TERMINATED
-
PCD New Gene Discovery
NCT03801395 ·Status: COMPLETED
-
Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases
NCT00221832 ·Status: UNKNOWN
-
Research for Individualized Therapeutics in Rare Genetic Disease
NCT05236595 ·Status: ENROLLING_BY_INVITATION
-
Natural History of the Progression of X-Linked Retinitis Pigmentosa
NCT04926129 ·Status: COMPLETED
-
Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the Carney Complex
NCT00001452 ·Status: COMPLETED
-
Diagnostic Research in Patients With Rare Diseases -Solving the Unsolved Rare Diseases
NCT04024774 ·Status: RECRUITING