The Natural History of Patients With Mutations in SEPN1 (SELENON) or LAMA2

Plain-language summary

This study examined the natural history (course over time) of muscle diseases caused by mutations in the SELENON (SEPN1) or LAMA2 genes. People with genetically confirmed SELENON or LAMA2 muscle disease who could complete the measurement protocol were eligible. It was a non-phase observational study and has been completed.

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

Completed

Sponsor

Radboud University Medical Center

Intervention

No intervention

Start date

8/26/2020

Estimated completion

3/24/2023

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
* Willing and able to travel to Nijmegen (The Netherlands)
* Dutch-speaking
* Genetically-confirmed muscle disease caused by mutations in SELENON (SEPN1): congenital muscular dystrophy with early spine rigidity or congenital myopathy (multicore/minicore disease, congenital fiber type size disproportion)
* Genetically confirmed muscular dystrophy caused by mutations in LAMA2: merosin-deficient muscular dystrophy 1A (early-onset LAMA2-related muscular dystrophy) or childhood-onset limb-girdle type muscular dystrophy (late-onset LAMA2-related muscular dystrophy)

Exclusion Criteria:

* None