A 5-year Natural History Study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the extended LAST STRONG Study

A 5-year Natural History Study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the extended LAST STRONG Study - extended LAST STRONG Study

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON53276

Enrollment

Registered

2023-09-26

Start date

2023-10-06

Completion date

Unknown

Last updated

2026-06-22

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

LAMA2 and SELENON

Interventions

None listed

Eligibility

Age

No minimum to 99 Years

Inclusion criteria

Inclusion criteria: - 0-100 years of age. - Willing and able to complete (part of) the measurement protocol at the Radboudumc. If patients do not wish or are not able to visit our neuromuscular center, they are offered to participate in our study through home visits. - Genetic confirmation of LAMA2-MD or SELENON-RM by two recessive (likely) pathologic mutations in the LAMA2 or SELENON gene, respectively. - Typical clinical and histological characteristics combined with genetic confirmation in a first degree relative.

Exclusion criteria

Exclusion criteria: - Insufficient understanding of the Dutch language. - Unwillingness of the patient or his/her legal representatives to provide written informed consent (IC).

Design outcomes

Primary

Measure	Time frame
The primary outcome of this study will be the MFM-20/32. Further, a wide variety of tests will be performed to get a full impression of the patient*s abilities and disabilities (e.g. neurological examination and functional measurements, questionnaires, imaging, pulmonary assessment, accelerometry). The tests that the patient undergoes depend on the age/abilities/wishes.	—

Secondary

Measure	Time frame
The results of all other tests than MFM-20/32	—

Countries

Netherlands

Outcome results