Status:

ENROLLING_BY_INVITATION

Structural Chromosome Rearrangements and Brain Disorders

Lead Sponsor:

Karolinska Institutet

Collaborating Sponsors:

Karolinska University Hospital

Conditions:

Rare Diseases

Genetic Disease

Eligibility:

All Genders

Brief Summary

The project is focused on the detailed study of structural genomic variants (SVs). Such genetic mutations are in fact alterations in the DNA molecule structure and include copy number variants, invers...

Detailed Description

PROJECT DESCRIPTION Aim 1) What are the molecular mechanisms of formation for structural genomic variants? There is already WGS data from more than 500 individual SVs. To understand underlying mutati...

Eligibility Criteria

Inclusion

  • Individual with a suspected rare disease and/or chromosomal abnormality

Exclusion

  • No suspected rare disease or chromosome abnormalities

Key Trial Info

Start Date :

December 20 2019

Trial Type :

OBSERVATIONAL

Allocation :

ESTIMATED

End Date :

December 31 2029

Estimated Enrollment :

10000 Patients enrolled

Trial Details

Trial ID

NCT06072079

Start Date

December 20 2019

End Date

December 31 2029

Last Update

September 4 2025

Active Locations (1)

Enter a location and click search to find clinical trials sorted by distance.

Page 1 of 1 (1 locations)

1

Anna Lindstrand

Stockholm, Sweden, 19175