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

Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational
SUMMARY

SELENON-related myopathy (SELENON-RM) and LAMA2-related muscular dystrophy (LAMA2-MD) are congenital neuromuscular disorders presenting with slowly, progressive axial muscle weakness, spinal rigidity, scoliosis and respiratory insufficiency. Currently, no curative treatment options exist, yet promising preclinical trials are ongoing. Clinical trials are expected to start within 5 years. Natural history data and outcome measures for measuring therapy effectiveness were lacking. Therefore, the LAST STRONG Study (a 1.5-year natural history study) started in 2020. With the extended LAST STRONG Study, we aim to further analyze and expand the 1.5-year natural history data on SELENON-RM or LAMA2-MD to provide a detailed clinical description of the Dutch and Flemish cohort. This will enable a smooth transition towards implementation into clinical care and clinical trials. The extended LAST STRONG Study is a prospective, observational natural history study in Dutch-speaking patients of all ages diagnosed with SELENON-RM and LAMA2-MD. Patients will be invited to visit our hospital two times (3- and 5-years) after the first visit in the LAST STRONG Study. During both visits, patients will undergo a subset of tests (neurological examination, functional measurements, questionnaires, muscle ultrasound, MRI, pulmonary assessment and accelerometry). All measurements are adapted to the patient's age and functional disabilities.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 1 day
Maximum Age: 100
Healthy Volunteers: f
View:

• 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

Locations
Other Locations
Netherlands
Radboudumc
RECRUITING
Nijmegen
Contact Information
Primary
Ilse de Laat
ilse.delaat@radboudumc.nl
+31611469112
Backup
Nicol Voermans, MD PhD
nicol.voermans@radboudumc.nl
+31650155770
Time Frame
Start Date: 2023-10-06
Estimated Completion Date: 2026-09-01
Participants
Target number of participants: 40
Treatments
SELENON-related myopathy or LAMA2-related muscular dystrophy
Participants diagnosed with congenital myopathy/muscular dystrophy due to mutations in the SEPN1 (SELENON) or LAMA2 gene~Interventions: No intervention
Related Therapeutic Areas
Sponsors
Leads: Radboud University Medical Center

This content was sourced from clinicaltrials.gov

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