Clinical trials: Short-read Genome Sequencing
Developmental and Epileptic Encephalopathy, Epilepsy in Children
Developmental and Epileptic Encephalopathies Diagnosed Via Long-read Genome Sequencing
This study focuses on children with Developmental and Epileptic Encephalopathy (DEE), a severe form of epilepsy that often has a genetic origin.
- Trial name
- EEPILOG (NCT07396883)
- Testing
- Long-read Whole Genome Sequencing (lrWGS)
- Where
- 4 sites in France
- Volunteers
- 20 people
- Sponsor
- University Hospital, Strasbourg, France
Intellectual Disability, Neurodevelopmental Disorder (Diagnosis)
Integration of New Generation Multi-omics Analyses for the Diagnosis of Genetic Neurodevelomental Disorders
Neurodevelopmental disorders (NDDs), including intellectual disability (ID), represent the most common indication for genetic testing.
- Conditions
- Intellectual Disability, Neurodevelopmental Disorder (Diagnosis), srGS, lrGS
- Trial name
- NEXTOMIX (NCT07755098)
- Testing
- Re-analysis of available srGS data, Re-analysis of available srGS data, followed by complementary analyses (lrGS sequencing, mRNA, and GMOs), srGS sequencing
- Where
- France
- Volunteers
- 132 people
- Sponsor
- Centre Hospitalier Universitaire Dijon
Rare Diseases, Genetic Predisposition
Mitochondrial Diseases - Long-read Genome and Transcriptome Sequencing in Cases Unresolved After Short-read Genomics
The MiDiSeq project will enroll 20 unresolved index patients with suspected mitochondrial disease prioritized for genomic analysis.
- Trial name
- NCT03962452
- Testing
- Next Generation Sequencing (NGS)
- Where
- Germany
- Volunteers
- 20 people
- Sponsor
- University Hospital Tuebingen