Diagnosis of mitochondriopathies and familial Mediterranean fever using nanopore sequencing

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00015863

Enrollment

Registered

2018-11-16

Start date

2019-03-18

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

G31.81 E85.0 O03

Interventions

Group 1: In this study at first a method comparison between conventional Sanger sequencing and nanopore sequencing should be performed, to see whether nanopore sequencing is suitable for the laborator

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: Regarding the diagnosis of mitochondriopathies female patients with recurrent miscarriage should be included into the study. To investigate the suitability of nanopore sequencing for the diagnosis of familial Mediterranean fever male and female patients with suspected familial Mediterranean fever should be included.

Exclusion criteria

Exclusion criteria: There is no written consent regarding human genetics investigations according to the German Genetic Diagnostic Act.

Design outcomes

Primary

Measure	Time frame
Is it possible to use nanopore sequencing for the diagnosis of mitochondriopathies and familial Mediterranean fever?	—

Secondary

Measure	Time frame
Is there a possible relationship between recurrent miscarriage and mitochondriopathies?	—

Countries

Germany

Contacts

Public ContactJonas Schmidt

Laborärzte Singen

jonas.schmidt@labor-blessing.de00497731/99560

Outcome results

None listed

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