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

NCT02380729 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 200

Last updated 2018-01-26

No results posted yet for this study

Summary

The MENDEL-study will investigate whether the use of gene panel or whole genome sequencing (WGS) will:

1. improve the rate of diagnosis and through this compare the performance of the two diagnostic approaches (gene panel vs. WGS),
2. investigate whether use of said sequencing approaches early in the diagnostic process results in reduced health care spending, and
3. result in an improved quality of life for the patients and their parents.

Conditions

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.

Sponsors & Collaborators

  • German Federal Ministry of Education and Research

    collaborator OTHER_GOV

  • Charite University, Berlin, Germany

    lead OTHER

Principal Investigators

  • Markus Schuelke, M.D. · Department of Neuropediatrics, Charité

  • Stefan Mundlos, M.D. · Institute of Medical Genetics and of Human Genetics, Charité

  • Heiko Krude, M.D. · Department of General Pediatrics, Charité

Eligibility

Max Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2015-01-31
Primary Completion
2017-06-30
Completion
2017-12-31

Countries

  • Germany

Study Locations

More Related Trials

Entities

Diseases

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 NCT02380729 on ClinicalTrials.gov