Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey.

ABSTRACT:

Background and purpose

Primary mitochondrial diseases (PMDs) are rare diseases for which diagnosis is challenging, and management and training programs are not well defined in Europe. To capture and assess care needs, five different European Reference Networks have conducted an exploratory survey.

Methods

The survey covering multiple topics relating to PMDs was sent to all ERNs healthcare providers (HCPs) in Europe.

Results

We have collected answers from 220 members based in 24/27 European member states and seven non-European member states. Even though most of the responders are aware of neurogenetic diseases, difficulties arise in the ability to deliver comprehensive genetic testing. While single gene analysis is widely available in Europe, whole exome and genome seq

SUBMITTER: Mancuso M 

PROVIDER: S-EPMC10828000 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature