CompletedNot Applicable

Mitochondrial Diseases - Long-read Genome and Transcriptome Sequencing in Cases Unresolved After Short-read Genomics

Germany20 participantsStarted 2019-03-01

Plain-language summary

The MiDiSeq project will enroll 20 unresolved index patients with suspected mitochondrial disease prioritized for genomic analysis.

Who can participate

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: Unclear diagnosis Suspected genetic cause of the disease Exclusion Criteria: Missing informed consent of the patient/ legal guardian

What they're measuring

(Epi)Genetic variation

Timeframe: 1 Day

Trial details

NCT IDNCT03962452

SponsorUniversity Hospital Tuebingen

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2024-02-01

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