Genetic diagnostic for hypoglycemic diseases using next-generation sequencing

Status

Active, not recruiting

Phases

Unknown

Study type

Interventional

Source

DRKS

Registry ID

DRKS00006874

Enrollment

Registered

2014-11-07

Start date

2014-11-01

Completion date

Unknown

Last updated

2025-04-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

E16.2 E16.9

Interventions

Group 1: conventional biochemical differential diagnostic workup, additionally genetic differential workup using next-generation sequencing

Eligibility

Sex/Gender

All

Age

1 Days to 17 Years

Inclusion criteria

Inclusion criteria: patients with documented hypoglycemia without exogenous trigger and without proven genetic diagnosis

Exclusion criteria

Exclusion criteria: Lack of informed consent

Design outcomes

Primary

Measure	Time frame
Is it possible to make an accurate genetic diagnosis by targeted next-generation sequencing in patients that are biochemically not classifiable?	—

Secondary

Measure	Time frame
Are there digenic diseases in this spectrum, that may not be identified by biochemical analysis and selective confirmatory sequencing of single genes? Are there mutations in genes that are known for other forms of disturbed glucose regulation but hypoglycemia?	—

Countries

Germany

Contacts

Public ContactSebastian Kummer

Klinik für Allgemeine Pädiatrie, Neonatologie und Kinderkardiologie, Universitätsklinikum Düsseldorf

sebastian.kummer@med.uni-duesseldorf.de0211-81-17687

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 4, 2026