MRI scans to study muscle involvement in patients with anoctamin 5 gene variants
MRI-phenotyping of Patients With Pathogenic Anoctamin 5 Variants
This study is trying to see how muscle problems show up in people with specific gene changes related to certain types of muscular dystrophy by looking at their MRI scans.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 200 (estimated) |
| Sex | All |
| Sponsor | Rigshospitalet, Denmark Academic / other |
| Locations | 1 site (Copenhagen) |
| Trial ID | NCT05102799 on ClinicalTrials.gov |
What this trial studies
This observational study aims to collect a large cohort of MRI scans from patients with pathogenic variants in the anoctamin 5 gene to better understand muscle involvement in various phenotypes of anoctaminopathy. The study focuses on patients with Limb-girdle muscular dystrophy type R12 and Miyoshi distal muscular dystrophy type 3, examining how these conditions manifest in different muscle groups. By analyzing MRI data, researchers hope to clarify the distinctions between these phenotypes and improve the understanding of disease progression and muscle involvement. The study will involve collaboration across international sites to gather comprehensive data.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals with two pathogenic variants in the anoctamin-5 gene and available T1-weighted MR-images of their lower back and leg muscles.
Not a fit: Patients with concomitant disorders that cause muscular atrophy, such as polyneuropathy or other muscle diseases, may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnosis and management strategies for patients with anoctaminopathies.
How similar studies have performed: While few studies have explored the phenotype of patients with ANO5 mutations using MRI, this study represents a novel approach to understanding these conditions on a larger scale.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
Copenhagen
- Nanna Scharff Poulsen — Copenhagen, Denmark (Recruiting)
Study contacts
- Study coordinator: Nanna S Poulsen, MD
- Email: Nanna.scharff.poulsen@regionh.dk
- Phone: +4535454346
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.