MedTrace Logo

Combining Exome and Transcriptome Data to Unravel the Genetic Basis of the Lissencephalies

NCT05185414 · Status: UNKNOWN · Phase: NA · Type: INTERVENTIONAL · Enrollment: 50

Last updated 2022-01-11

No results posted yet for this study

Summary

Malformations of cortical development (MCD) are a heterogenous group of brain malformations including lissencephaly, heterotopia and polymicrogyria. The lissencephaly spectrum (including lissencephaly, pachygyria and subcortical band heterotopia) is a well-defined group of MCD with a strong monogenetic basis. Using current molecular techniques, a causative variant is detected in approximately 80% of individuals with lissencephaly. In a routine diagnostic setting, exome-based gene panels are most frequently used while whole exome sequencing (WES) and whole genome sequencing (WGS) are increasingly being implemented. Both techniques have their shortcomings including the detection of small copy number variants, the identification of pathogenic variants in non-coding regions as well as variant interpretation. The parallel use of quantitative RNA sequencing, measuring differences in RNA expression could be a possible solution for these shortcomings. The proposed research project will for the first time 1) evaluate the added value of WES/WGS combined with quantitative RNA sequencing for the identification of novel genes in individuals with lissencephaly, 2) identify the optimal sampling tissue for RNA sequencing in complex neurological phenotypes and 3) use RNA expression data to provide an evidence base for the current lissencephaly classification.

Conditions

  • Classical Lissencephalies and Subcortical Band Heterotopias

Interventions

DIAGNOSTIC_TEST

Venipuncture and skin biopsy for RNA extraction

* Blood sampling (standard venipuncture) * Skin biopsy (fibroblasts)

Sponsors & Collaborators

  • Marguerite - Marie Delacroix Foundation

    collaborator UNKNOWN

  • Universitair Ziekenhuis Brussel

    lead OTHER

Principal Investigators

  • Ellen RIJCKMANS, Dr · UZ Brussel - Vrije Universiteit Brussel

Study Design

Allocation
NON_RANDOMIZED
Purpose
DIAGNOSTIC
Masking
NONE
Model
PARALLEL

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-01-31
Primary Completion
2024-10-31
Completion
2025-09-30

Countries

  • Belgium

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05185414 on ClinicalTrials.gov