RecruitingNot Applicable

MRI-phenotyping of Patients With Pathogenic Anoctamin 5 Variants

Denmark200 participantsStarted 2021-04-01

Plain-language summary

A large cohort of MRI scans from patients with pathogenic variants in the anoctamin 5 gene will be collected through an international collaboration to better describe muscle involvement.

Who can participate

SexALL

See this in plain English?

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

Inclusion Criteria: * Two pathogenic variants in the anoctamin-5 gene * T1-weighted MR-images of lower back and leg muscles. Exclusion Criteria: \- Concomitant other disorders that also can result in muscular atrophy, i.e. polyneuropathy, other muscle diseases, recent long-term stay in intensive care, among others.

What they're measuring

Qualitative fat fraction lower back and legs

Timeframe: 15 minutes

Trial details

NCT IDNCT05102799

SponsorRigshospitalet, Denmark

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2026-02-01

Contact for this trial

Nanna S Poulsen, MD

+4535454346 Nanna.scharff.poulsen@regionh.dk

View on ClinicalTrials.gov More Limb Girdle Muscular Dystrophy trials