A 5-year Natural History Study in LAMA2-related Muscular Dystrophy and SELENON-related Myopathy.

Plain-language summary

This study aims to understand the natural course of the disease by following individuals with LAMA2-related muscular dystrophy and SELENON-related myopathy over 5 years. No treatment is given; people with a genetically confirmed diagnosis who speak Dutch can take part. The study is being conducted as a non-phase natural history study and is currently recruiting participants.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Recruiting

Sponsor

Radboud University Medical Center

Intervention

No intervention

Start date

10/6/2023

Estimated completion

9/1/2026

Countries

Netherlands

Related genes

Locations

• Nijmegen, Netherlands

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

* Willing and able to complete (part of) the measurement protocol at the Radboudumc, Nijmegen. If patients do not wish or not able to visit our neuromuscular center, they are offered to participate in our study through home visits.
* Genetic conformation of LAMA2-related muscular dystrophy or SELENON-related myopathy by two recessive (likely) pathologic mutations in the LAMA2 or SELENON gene.
* Typical clinical and histological characteristics combined with genetic confirmation in a first degree relative.
* Dutch speaking

Exclusion Criteria:

* Insufficient understanding of the Dutch language