NCT02380729View on ClinicalTrials.gov

Mutation Exploration in Non-acquired, Genetic Disorders and Its Impact on Health Economy and Life Quality

CompletedOBSERVATIONAL
Enrollment

200

Participants

Timeline

Start Date

January 31, 2015

Primary Completion Date

June 30, 2017

Study Completion Date

December 31, 2017

Conditions
Genetic Diseases
Interventions
GENETIC

Gene Panel Sequencing

Enrichment for and panel sequencing of 2942 disease genes listed in the Online Mendelian Inheritance of Man (OMIM) database.

GENETIC

Whole Genome Sequencing (WGS)

Whole Genome Sequencing of the index case and of both parents in the event that Gene Panel Sequencing did not identify a disease-causing mutation.

Trial Locations (3)

13353

Department of General Pediatrics, Charité-Universitätsmedizin, Berlin

Department of Neuropediatrics, Charité-Universitätsmedizin, Berlin

Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin, Berlin

All Listed Sponsors
collaborator

German Federal Ministry of Education and Research

OTHER_GOV

lead

Charite University, Berlin, Germany

OTHER

NCT02380729 - Mutation Exploration in Non-acquired, Genetic Disorders and Its Impact on Health Economy and Life Quality | Biotech Hunter | Biotech Hunter