Diagnosis of mitochondriopathies and familial Mediterranean fever using nanopore sequencing

• Conditions: G31.81; O03; Non-neuropathic heredofamilial amyloidosis; E85.0; Spontaneous abortion

• Registration Number: DRKS00015863
• Lead Sponsor: aborärzte Singen

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2018-11-16
• Study Completion: 2021-12-01
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Complete
• Sex: All
• Target Recruitment: 47

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

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

Study & Design

• Study Type: observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Is it possible to use nanopore sequencing for the diagnosis of mitochondriopathies and familial Mediterranean fever?

Secondary Outcome Measures

Name	Time	Method
Is there a possible relationship between recurrent miscarriage and mitochondriopathies?