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)
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1
Anna Lindstrand
Stockholm, Sweden, 19175