Genetic Diseases Clinical Trial
Official title:
Mutation Exploration in Non-acquired, Genetic Disorders and Its Impact on Health Economy and Life Quality
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.
Patients will be recruited from in- and outpatient clinics at the Otto Heubner Center, the
Berlin Center for Rare Diseases, and the Institute for Medical Genetics and Human Genetics at
Charité-Universitätsmedizin Berlin, Germany. Following informed consent, 5 ml EDTA blood will
be obtained from the index case and 10 ml blood from each parent. Disease related phenotype
information and the outcome of previous diagnostic tests and procedures will be recorded as
part of Study visit #1.
[1] Study visit #1
1. A medical genetics physical will be performed. Detailed clinical symptoms (phenotype)
will be recorded using Human Phenotype Ontology (HPO) terminology.
2. A detailed pedigree will be drawn.
3. Age of disease onset will be determined.
4. Results from previous diagnostic tests and procedures, as well as hospital stays, will
be recorded.
5. The parents will be asked to complete a validated, standardized quality of life
questionnaire adapted for for rare disease. The questionnaire is available online or in
paper form.
[2] Study visit #2a (optional)
This study visit will only take place in the event that gene panel sequencing identifies a
variant of uncertain significance, where additional information would be needed in order to
determine its pathogenicity (e.g. confirmational biochemical testing, collection of
additional information). Relevant research findings will be discussed and the nature and
necessity of the additional testing will be explained.
[3] Study visit #2b (optional)
This study visit will only take place in the event that WGS identifies a variant of uncertain
significance where additional information is needed in order to determine its pathogenicity >
see Study visit #2a.
[4] Study visit #3 (results session)
Results will be returned in the context of a genetic counseling session.
[5] Study visit #4 (6 months after Study visit #3)
The parents will be asked to complete the validated, standardized quality of life
questionnaire adapted for rare disease again.
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