Status:
UNKNOWN
Combining Exome and Transcriptome Data to Unravel the Genetic Basis of the Lissencephalies
Lead Sponsor:
Universitair Ziekenhuis Brussel
Collaborating Sponsors:
Marguerite - Marie Delacroix Foundation
Conditions:
Classical Lissencephalies and Subcortical Band Heterotopias
Eligibility:
All Genders
Phase:
NA
Brief Summary
Malformations of cortical development (MCD) are a heterogenous group of brain malformations including lissencephaly, heterotopia and polymicrogyria. The lissencephaly spectrum (including lissencephaly...
Detailed Description
As mentioned before, lissencephalies have a strong monogenetic base in contrast to other brain malformations. Approximately 80% percent of the lissencephalies can be genetically diagnosed by standard ...
Eligibility Criteria
Inclusion
- Overall:
- anomaly on MRI of the lissencephaly spectrum (lissencephaly, pachygyria, subcortical band heterotopia
- Diagnostic track:
- No established genetic diagnosis by conventional WES/WGS
- Research track:
- An established genetic diagnosis by conventinal WES/WGS
Exclusion
- No anomaly of the lissencephaly spectrum on MRI
Key Trial Info
Start Date :
January 1 2022
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
September 1 2025
Estimated Enrollment :
50 Patients enrolled
Trial Details
Trial ID
NCT05185414
Start Date
January 1 2022
End Date
September 1 2025
Last Update
January 11 2022
Active Locations (1)
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1
UZ Brussel
Jette, Brussels Capital, Belgium, 1090