What is this study trying to find out about SELENON-related myopathy and LAMA2-related muscular dystrophy?

This study aims to better understand how SELENON-RM and LAMA2-MD progress over time by collecting detailed health and function data. Researchers want to prepare for future clinical trials and improve care by observing patients' abilities and symptoms across several years. The study is sponsored by Radboud University Medical Center.

Who may be eligible for this SELENON-RM and LAMA2-MD clinical trial?

People of all ages with a confirmed diagnosis of SELENON-RM or LAMA2-MD who speak Dutch may be eligible. Participants need to be willing and able to complete assessments either at the hospital or through home visits. Insufficient understanding of Dutch excludes participation. Please review eligibility criteria for more details.

Is there any cost to participate in this SELENON-RM and LAMA2-MD clinical trial?

Study-related care, including all assessments and visits, is provided at no cost. However, personal travel expenses may vary and are not guaranteed to be covered. Participants can expect the study to cover medical costs related to the research.

Actively Recruiting

Age: 1Day - 100Years

All Genders

ID06132750

A 5-year Natural History Study in LAMA2-related Muscular Dystrophy and SELENON-related Myopathy: the Extended LAST STRONG Study

Led by Radboud University Medical Center · Updated on 2023-11-15

Participants Needed

Research Sites

N/A

Total Duration

AI-Summary

What this Trial Is About

Researchers are studying SELENON-related myopathy (SELENON-RM) and LAMA2-related muscular dystrophy (LAMA2-MD), which are rare neuromuscular disorders characterized by progressive muscle weakness, spinal rigidity, scoliosis, and breathing difficulties. There are currently no curative treatments, but promising preclinical research is underway. This extended study builds on previous 1.5-year data to better understand the natural history of these diseases and prepare for future clinical trials and care improvements. The study is an observational natural history study involving Dutch-speaking patients of all ages diagnosed with SELENON-RM or LAMA2-MD. Participants will have two follow-up visits at 3 and 5 years after their initial visit. During these visits, they will undergo various assessments including neurological exams, functional tests, questionnaires, muscle ultrasound, MRI scans, lung function tests, and activity monitoring using accelerometers. The tests are tailored to each participant's age and abilities. Participants will be carefully evaluated over time with measures such as motor function, physical activity, muscle condition, pulmonary function, pain, fatigue, and quality of life. These assessments help track changes from baseline at 3 and 5 years. The study poses minimal risk and aims to provide detailed health information to participants while supporting the development of future treatment trials. The total participation duration spans at least five years from the first visit.

CONDITIONS

Brief Title

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

Who Can Participate

Age: 1Day - 100Years

All Genders

Eligibility Criteria

You may qualify if you...

Willing and able to complete (part of) the measurement protocol at the Radboudumc, Nijmegen, or participate through home visits
Genetic confirmation of LAMA2-related muscular dystrophy or SELENON-related myopathy by two recessive (likely) pathological mutations in the LAMA2 or SELENON gene
Typical clinical and histological features with genetic confirmation in a first degree relative
Dutch speaking
Aged 1 year and older

You will not qualify if you...

Insufficient understanding of the Dutch language

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Monitoring

Duration - 5 years

Participants undergo detailed assessments including clinical and functional tests to track their condition over time without receiving any intervention.

3 visits over 5 years (in-person at baseline, 3 years, and 5 years)

Trial Site Locations

Total: 1 location

Radboudumc

Nijmegen, Gelderland, Netherlands, 6525GA

Actively Recruiting

Loading map...

Research Team

Ilse de Laat

Nicol Voermans, MD PhD

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

Frequently Asked Questions

Have more questions? Get in touch with our team for quick support

Not the Right Trial for You?

Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.

Already have an account? Log in here

Published Research Related To This Trial