Ignite Creation Date:
2024-05-06 @ 7:48 PM
Last Modification Date:
2024-10-26 @ 3:13 PM
Study NCT ID:
NCT06132750
Status:
RECRUITING
Last Update Posted:
2023-11-15
First Post:
2023-10-05
Brief Title:
A 5-year Natural History Study in LAMA2-related Muscular Dystrophy and SELENON-related Myopathy
Sponsor:
Radboud University Medical Center
Organization:
Radboud University Medical Center
Study Overview
Official Title:
A 5-year Natural History Study in LAMA2-related Muscular Dystrophy and SELENON-related Myopathy the Extended LAST STRONG Study
Status:
RECRUITING
Status Verified Date:
2023-09
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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 15-year natural history study started in 2020 With the extended LAST STRONG Study we aim to further analyze and expand the 15-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 patients age and functional disabilities
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 patients age and functional disabilities
Detailed Description:
Rationale A long-term prospective natural history study in an unselected group of patients including clinical and functional outcome measures is lacking in both SELENON-related myopathy SELENON-RM and LAMA2-related muscular dystrophy LAMA2-MD Due to the promising ongoing preclinical trials there is a high need to obtain natural history data in order to reach trial readiness for both diseases With the extended LAST STRONG study we aim to further analyze and expand our 15-year natural history data on SELENON-RM and 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 that are expected to start within 5 years
Objective 1 To collect 3- and 5-year natural history data in patients with SELENON-RM and LAMA2-MD 2 Implementation of natural history data collection into clinical care and international guidelines and reach trial readiness
Study design This is an observational study A variety of tests will be performed to get a full impression of the patients abilities and disabilities standard medical history neurological examination functional measurements questionnaires imaging pulmonary assessment and accelerometry The tests that the patient undergoes depend on the ageabilitieswishes The tests are selected based on our previously performed 15-year natural history study in LAMA2-MD and SELENON-RM Each participant will perform these measurements during the two scheduled visits at 3- and 5-year after the first visit during the LAST STRONG Study
Risk and benefit assessment This study does not concern any product medicinal product food product or medical device There is a small risk for minor injury eg when a participant falls However since the investigators use all functional tests using movements to which most participants are familiar ie walking transfers etc the participant will be able to estimate hisher own risk The investigators dont include tests in which they push participants to their physical limits the investigators conclude that this study has a negligible risk A benefit includes the possibility for participants to get a detailed analysis on their own health Additionally participants will contribute to the design of future clinical trials on possible treatment options
Objective 1 To collect 3- and 5-year natural history data in patients with SELENON-RM and LAMA2-MD 2 Implementation of natural history data collection into clinical care and international guidelines and reach trial readiness
Study design This is an observational study A variety of tests will be performed to get a full impression of the patients abilities and disabilities standard medical history neurological examination functional measurements questionnaires imaging pulmonary assessment and accelerometry The tests that the patient undergoes depend on the ageabilitieswishes The tests are selected based on our previously performed 15-year natural history study in LAMA2-MD and SELENON-RM Each participant will perform these measurements during the two scheduled visits at 3- and 5-year after the first visit during the LAST STRONG Study
Risk and benefit assessment This study does not concern any product medicinal product food product or medical device There is a small risk for minor injury eg when a participant falls However since the investigators use all functional tests using movements to which most participants are familiar ie walking transfers etc the participant will be able to estimate hisher own risk The investigators dont include tests in which they push participants to their physical limits the investigators conclude that this study has a negligible risk A benefit includes the possibility for participants to get a detailed analysis on their own health Additionally participants will contribute to the design of future clinical trials on possible treatment options
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None