Genetic diagnostic for hypoglycemic diseases using next-generation sequencing
Not Applicable
- Conditions
- Hypoglycaemia, unspecifiedDisorder of pancreatic internal secretion, unspecifiedE16.9E16.2
- Registration Number
- DRKS00006874
- Lead Sponsor
- Klinik für Allgemeine Pädiatrie, Neonatologie und KinderkardiologieUniversitätsklinikum Düsseldorf
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Pending
- Sex
- All
- Target Recruitment
- 50
Inclusion Criteria
patients with documented hypoglycemia without exogenous trigger and without proven genetic diagnosis
Exclusion Criteria
Lack of informed consent
Study & Design
- Study Type
- interventional
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Is it possible to make an accurate genetic diagnosis by targeted next-generation sequencing in patients that are biochemically not classifiable?
- Secondary Outcome Measures
Name Time Method Are there digenic diseases in this spectrum, that may not be identified by biochemical analysis and selective confirmatory sequencing of single genes?<br>Are there mutations in genes that are known for other forms of disturbed glucose regulation but hypoglycemia?