LAMA2-related Muscular DystrophyNCT06132750
A 5-year Natural History Study in LAMA2-related Muscular Dystrophy and SELENON-related Myopathy.
An observational study of LAMA2-related Muscular Dystrophy and SELENON-related Myopathy, run by Radboud University Medical Center at 1 site in Netherlands.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 day to 100 years
- Conditions the study is for
- LAMA2-related Muscular Dystrophy, SELENON-related Myopathy
- How many people
- 40 participants
- Where
- 1 siteNetherlands
- Study dates
- 6 Oct 2023to 1 Sep 2026
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 day to 100 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: SELENON-RM patients (prevalence: 0.5 in 1.000.000) and LAMA2-RM patients (prevalence: 4 in 500.000) are rare and no Dutch registry exists. Therefore, the investigators can only estimate the number of patients in the Netherlands and Belgium. All patients with SELENON-RM and LAMA2-MD mutations will be identified through contact with genetic diagnostic services, rehabilitation centers, and muscle disease experts in The Netherlands and Dutch-speaking Belgium. In the LAST STRONG Study, 27 LAMA2-MD patients (21±13 years) and 11 SELENON-RM (20±13 years) patients were included. Based on this high participation rate and the minimal loss from follow-up, we expect between 35 to 40 patients to participate in the extended LAST STRONG Study.
Who may be able to join
- 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
Who cannot join
- Insufficient understanding of the Dutch language
Trial locations and contacts
1 site in 1 country.
Netherlands1 site, 1 recruiting
- Recruiting
Radboudumc
Nijmegen, Gelderland, 6525GA
Ilse de Laat, +31646521547, ilse.delaat@radboudumc.nl
Nicol Voermans, MD PhD, +31650155770, nicol.voermans@radboudumc.nl
About this study
Official title: A 5-year Natural History Study in LAMA2-related Muscular Dystrophy and SELENON-related Myopathy: the Extended LAST STRONG Study
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.
Read the 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 1.5-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 patient's 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 age/abilities/wishes. The tests are selected based on our previously performed 1.5-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, e.g. when a participant falls. However since the investigators use all functional tests using movements to which most participants are familiar (i.e. walking, transfers, etc.), the participant will be able to estimate his/her own risk. The investigators don't 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.
- Being tested
- No intervention
- Medical subject headings
- Muscular dystrophy congenital, merosin negative
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No interventionOther
No intervention
| Study group | Role | What they receive |
|---|---|---|
| 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 Receives: Other: No intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change of Motor Function Measure (MFM)-32 (older than 7 years) of MFM-20 (2 to 7 years old)
Global motor functioning. The items of the MFM are classified in 3 domains: D1: standing and transfers, D2: Axial and proximal motor function, D3: Distal motor function. Higher scored indicate a better outcome. The range of the total score is 0-96. The main point of interest includes the change of MFM score over a period of 5 years.
Measured: Change from baseline to 3 years and 5 years
Secondary outcomes (31)
Change of physical activity in daily life assessed by an accelerometer (GENEActiv original devices) for 7 days
Physical activity in daily life will be assessed by wearing an accelerometer (GENEActiv original devices) for 7 days.
Measured: Change from baseline to 3 years and 5 years
Change of activity limitations assessed using ACTIVLIM (6 years and older)
ACTIVLIM assesses the ability to perform 22 activities of daily life on a 3-point scale from impossible to easy.
Measured: Change from baseline at 3 years and 5 years
Change of bone density assessed using DEXA-scan (2 years and older)
The bone density of the spine and hip will be measured by a DEXA scan.
Measured: Change from baseline at 3 years and 5 years
Change of The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) score (children under the age of 2 years)
CHOP INTEND assesses motor skills of children below 2 years of age.
Measured: Change from baseline at 3 years and 5 years
Change of fatigue (pediatric 2-17 years old) assessed by PedsQL Multidimensional Fatigue Scale (MFS)
PedsQL MFS assesses subjective fatigue in three domains.
Measured: Change from baseline at 3 years and 5 years
Change of functional ability in daily life assessed by Egen klassification scale version 2 (EK2) (16 years and older)
The EK2 is a questionnaire that was designed to measure functional ability of activities in daily living in non-ambulant Duchenne muscular dystrophy patients. This questionnaire is only available in English. Therefore, only participants of 16 years and older who have a sufficient understanding of the English language will be asked to complete this questionnaire.
Measured: Change from baseline at 3 years and 5 years
Change of Functional Ambulation Category (FAC) (5 years and older)
The FAC assesses functional ambulation in participants.
Measured: Change from baseline at 3 years and 5 years
Change of Graded and Timed function tests
The time (in sec) it takes to complete functions of the lower extremity will be assessed with the 30 seconds sit to stand test, the time it takes to climb 4 stairs, the time it takes to descend 4 stairs and the time it takes to rise from the floor.
Measured: Change from baseline at 3 years and 5 years
Change of Hammersmith Infant Neurological Examination (HINE) (under the age of 2 years)
HINE is designed to be a simple and scorable method for evaluating infants from 2 months to 2 years of age. It includes three sections that assess different aspects of neurologic function, including neurological examination, developmental milestones and behavioral assessment.
Measured: Change from baseline at 3 years and 5 years
Change of Impact on Participation and Autonomy (IPA) (18 years and older)
Questionnaire about participation and autonomy in daily life.
Measured: Change from baseline at 3 years and 5 years
Change of maximal voluntary isometric contraction (5 years and older)
Maximal voluntary isometric contraction will be measured by hand-held dynamometry.
Measured: Change from baseline at 3 years and 5 years
Change of location, level and characteristics of pain assessed by McGill pain questionnaire (12 years and older)
Questionnaire in which the location, level and characteristics of pain are assessed.
Measured: Change from baseline at 3 years and 5 years
Change of muscle atrophy (cm) assessed by muscle ultrasound
Muscle atrophy of the leg, arm and abdominal muscles will be assessed by muscle ultrasound.
Measured: Change from baseline at 3 years and 5 years
Change of muscle fattening (echo-intensity) assessed by muscle ultrasound
Muscle fattening of the leg, arm and abdominal muscles will be assessed by muscle ultrasound.
Measured: Change from baseline at 3 years and 5 years
Change of muscle fattening by quantitative lower extremity muscle MRI (10 years and older)
A lower extremity MRI will be performed in participants who are able to lie supine and still for 20 minutes and who are not dependent on respiratory equipment. Muscle fattening will be assessed by Regions of interest (ROIs) and modified Mercuri score.
Measured: Change from baseline at 3 years and 5 years
Change of muscle atrophy by quantitative lower extremity muscle MRI (10 years and older)
A lower extremity MRI will be performed in participants who are able to lie supine and still for 20 minutes and who are not dependent on respiratory equipment. Muscle atrophy will be assessed by muscle volume score.
Measured: Change from baseline at 3 years and 5 years
Change of muscle power assessed by muscle power measurements (Medical Research Council (MRC) scale) (2 years and older)
Muscle power of individual muscle groups can be assessed by muscle power measurements and graded in correspondence with the MRC scale.
Measured: Change from baseline at 3 years and 5 years
Pulmonary function (5 years and older) - change of forced vital capacity (percentage predicted)
Obtained with handheld spirometry in sit and supine.
Measured: Change from baseline at 3 years and 5 years
Pulmonary function (5 years and older) - change of forced expiratory volume in the first second (liter) (percentage predicted)
Obtained with handheld spirometry in sit and supine
Measured: Change from baseline at 3 years and 5 years
Pulmonary function (5 years and older) - change of peak expiratory flow (liter per second)
Obtained with handheld spirometry in sit and supine
Measured: Change from baseline at 3 years and 5 years
Pulmonary function (5 years and older) - change of vital capacity (percentage predicted)
Obtained with handheld spirometry in sit and supine
Measured: Change from baseline at 3 years and 5 years
Pulmonary function (5 years and older) - change of peak cough flow (liter per second)
Obtained with handheld spirometry in sit and supine
Measured: Change from baseline at 3 years and 5 years
Pulmonary function (5 years and older) - change of maximal expiratory pressure (cmH2O)
Obtained with handheld device
Measured: Change from baseline at 3 years and 5 years
Pulmonary function (5 years and older) - change of maximal inspiratory pressure (cmH2O)
Obtained with handheld device
Measured: Change from baseline at 3 years and 5 years
Pulmonary function (5 years and older) - change of sniff nasal inspiratory pressure (cmH2O)
Obtained with handheld device
Measured: Change from baseline at 3 years and 5 years
Change of Quality of life (adult) assessed by SF36/RAND36
The Quality of Life is measured by the SF36/RAND36 questionnaire. This questionnaire addresses eight concepts: physical functioning, bodily pain, role limitations due to physical health problems, role limitations due to personal or emotional problems, emotional well-being, social functioning, energy/fatigue, and general health perceptions. It also includes a singe item that provides an indication of perceived change in health.
Measured: Change from baseline at 3 years and 5 years
Change of Quality of Life (adult) assessed by Individualized Neuromuscular Quality of Life (INQoL)
The INQoL is a validated muscle disease specific measure of quality of life, which can be used for individuals or large samples.
Measured: Change from baseline at 3 years and 5 years
Change of Quality of Life (pediatric; 2-17 years old) assessed by PedsQL neuromuscular module (NMM)
The PedsQL NMM questionnaire consists of 25 questions in three domains: Neuromuscular disease, communication and family resources.
Measured: Change from baseline at 3 years and 5 years
Change of range of motion of elbows, wrist, hips, knee and ankle
The range of motion of elbows, wrist, hips, knee and ankle is noted bilaterally by goniometry.
Measured: Change from baseline at 3 years and 5 years
Change of Brooke and Vignos scale (2 years and older)
The Brooke and Vignos scale provide ordinal data to assess the upper and lower extremity functions.
Measured: Change from baseline at 3 years and 5 years
Change of Wong-Baker Faces Pain Scale (2 years and older)
The Wong-Baker Faces Pain Scale was originally created for children to help them communicate about their pain.
Measured: Change from baseline at 3 years and 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Nov 2023
- Study start6 Oct 2023
- Primary completion1 Sep 2026 (estimated)
- Study completion1 Sep 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for LAMA2-related Muscular DystrophyStudies of the same condition, open and under way.
- More trials run by Radboud University Medical CenterThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 40 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Radboud University Medical Center
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06132750
- Sponsor's protocol ID
- NL84381.091.23
- Status last verified
- Sep 2023
- First submitted
- 5 Oct 2023
- Last updated
- 15 Nov 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: Research data is open access shared upon publication, provided that this complies with privacy regulations. The Donders Repository is the default repository for sharing the investigators' data.
Publications
de Laat ECM, Houwen-van Opstal SLS, Bouman K, van Doorn JLM, Cameron D, van Alfen N, Dittrich ATM, Kamsteeg EJ, Smeets HJM, Groothuis JT, Erasmus CE, Voermans NC. A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study. BMC Neurol. 2024 Oct 23;24(1):409. doi: 10.1186/s12883-024-03852-4.
PubMed 39443859
Study at a glance
From the registry record, last updated by the sponsor on 15 Nov 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A 5-year Natural History Study in LAMA2-related Muscular Dystrophy and SELENON-related Myopathy: the Extended LAST STRONG Study
- ClinicalTrials.gov ID
- NCT06132750
- Acronym / sponsor ID
- NL84381.091.23
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- Radboud University Medical CenterUniversity, hospital or other
- Study start
- 6 Oct 2023 (actual)
- Primary completion
- 1 Sep 2026 (estimated)
- Study completion
- 1 Sep 2026 (estimated)
- First posted
- 15 Nov 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 1.5-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 patient's 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 age/abilities/wishes. The tests are selected based on our previously performed 1.5-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, e.g. when a participant falls. However since the investigators use all functional tests using movements to which most participants are familiar (i.e. walking, transfers, etc.), the participant will be able to estimate his/her own risk. The investigators don't 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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| SELENON-related myopathy or LAMA2-related muscular dystrophy | – | Other: No interventionParticipants diagnosed with congenital myopathy/muscular dystrophy due to mutations in the SEPN1 (SELENON) or LAMA2 gene Interventions: No intervention |
Who may qualify
- Ages
- 1 day to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- SELENON-RM patients (prevalence: 0.5 in 1.000.000) and LAMA2-RM patients (prevalence: 4 in 500.000) are rare and no Dutch registry exists. Therefore, the investigators can only estimate the number of patients in the Netherlands and Belgium. All patients with SELENON-RM and LAMA2-MD mutations will be identified through contact with genetic diagnostic services, rehabilitation centers, and muscle disease experts in The Netherlands and Dutch-speaking Belgium. In the LAST STRONG Study, 27 LAMA2-MD patients (21±13 years) and 11 SELENON-RM (20±13 years) patients were included. Based on this high participation rate and the minimal loss from follow-up, we expect between 35 to 40 patients to participate in the extended LAST STRONG Study.
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (1 listed)
- Insufficient understanding of the Dutch language
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No interventionNo intervention | Other | SELENON-related myopathy or LAMA2-related muscular dystrophy |
Primary outcome
Change of Motor Function Measure (MFM)-32 (older than 7 years) of MFM-20 (2 to 7 years old)
Time frame: Change from baseline to 3 years and 5 years
Global motor functioning. The items of the MFM are classified in 3 domains: D1: standing and transfers, D2: Axial and proximal motor function, D3: Distal motor function. Higher scored indicate a better outcome. The range of the total score is 0-96. The main point of interest includes the change of MFM score over a period of 5 years.
31 secondary outcomes
Change of physical activity in daily life assessed by an accelerometer (GENEActiv original devices) for 7 days
Time frame: Change from baseline to 3 years and 5 years
Change of activity limitations assessed using ACTIVLIM (6 years and older)
Time frame: Change from baseline at 3 years and 5 years
Change of bone density assessed using DEXA-scan (2 years and older)
Time frame: Change from baseline at 3 years and 5 years
Change of The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) score (children under the age of 2 years)
Time frame: Change from baseline at 3 years and 5 years
Change of fatigue (pediatric 2-17 years old) assessed by PedsQL Multidimensional Fatigue Scale (MFS)
Time frame: Change from baseline at 3 years and 5 years
Change of functional ability in daily life assessed by Egen klassification scale version 2 (EK2) (16 years and older)
Time frame: Change from baseline at 3 years and 5 years
Change of Functional Ambulation Category (FAC) (5 years and older)
Time frame: Change from baseline at 3 years and 5 years
Change of Graded and Timed function tests
Time frame: Change from baseline at 3 years and 5 years
Change of Hammersmith Infant Neurological Examination (HINE) (under the age of 2 years)
Time frame: Change from baseline at 3 years and 5 years
Change of Impact on Participation and Autonomy (IPA) (18 years and older)
Time frame: Change from baseline at 3 years and 5 years
Change of maximal voluntary isometric contraction (5 years and older)
Time frame: Change from baseline at 3 years and 5 years
Change of location, level and characteristics of pain assessed by McGill pain questionnaire (12 years and older)
Time frame: Change from baseline at 3 years and 5 years
Change of muscle atrophy (cm) assessed by muscle ultrasound
Time frame: Change from baseline at 3 years and 5 years
Change of muscle fattening (echo-intensity) assessed by muscle ultrasound
Time frame: Change from baseline at 3 years and 5 years
Change of muscle fattening by quantitative lower extremity muscle MRI (10 years and older)
Time frame: Change from baseline at 3 years and 5 years
Change of muscle atrophy by quantitative lower extremity muscle MRI (10 years and older)
Time frame: Change from baseline at 3 years and 5 years
Change of muscle power assessed by muscle power measurements (Medical Research Council (MRC) scale) (2 years and older)
Time frame: Change from baseline at 3 years and 5 years
Pulmonary function (5 years and older) - change of forced vital capacity (percentage predicted)
Time frame: Change from baseline at 3 years and 5 years
Pulmonary function (5 years and older) - change of forced expiratory volume in the first second (liter) (percentage predicted)
Time frame: Change from baseline at 3 years and 5 years
Pulmonary function (5 years and older) - change of peak expiratory flow (liter per second)
Time frame: Change from baseline at 3 years and 5 years
Pulmonary function (5 years and older) - change of vital capacity (percentage predicted)
Time frame: Change from baseline at 3 years and 5 years
Pulmonary function (5 years and older) - change of peak cough flow (liter per second)
Time frame: Change from baseline at 3 years and 5 years
Pulmonary function (5 years and older) - change of maximal expiratory pressure (cmH2O)
Time frame: Change from baseline at 3 years and 5 years
Pulmonary function (5 years and older) - change of maximal inspiratory pressure (cmH2O)
Time frame: Change from baseline at 3 years and 5 years
Pulmonary function (5 years and older) - change of sniff nasal inspiratory pressure (cmH2O)
Time frame: Change from baseline at 3 years and 5 years
Change of Quality of life (adult) assessed by SF36/RAND36
Time frame: Change from baseline at 3 years and 5 years
Change of Quality of Life (adult) assessed by Individualized Neuromuscular Quality of Life (INQoL)
Time frame: Change from baseline at 3 years and 5 years
Change of Quality of Life (pediatric; 2-17 years old) assessed by PedsQL neuromuscular module (NMM)
Time frame: Change from baseline at 3 years and 5 years
Change of range of motion of elbows, wrist, hips, knee and ankle
Time frame: Change from baseline at 3 years and 5 years
Change of Brooke and Vignos scale (2 years and older)
Time frame: Change from baseline at 3 years and 5 years
Change of Wong-Baker Faces Pain Scale (2 years and older)
Time frame: Change from baseline at 3 years and 5 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Nov 2023.
- Derived from this study: PubMed 39443859de Laat ECM, Houwen-van Opstal SLS, Bouman K, van Doorn JLM, Cameron D, van Alfen N, Dittrich ATM, Kamsteeg EJ, Smeets HJM, Groothuis JT, Erasmus CE, Voermans NC. A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study. BMC Neurol. 2024 Oct 23;24(1):409. doi: 10.1186/s12883-024-03852-4.
- Individual participant dataSharing planned: Undecided. Research data is open access shared upon publication, provided that this complies with privacy regulations. The Donders Repository is the default repository for sharing the investigators' data.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of LAMA2-related Muscular Dystrophy and SELENON-related Myopathy, run by Radboud University Medical Center at 1 site in Netherlands.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 15 Nov 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Netherlands. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Ilse de Laat (+31611469112, ilse.delaat@radboudumc.nl), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change of Motor Function Measure (MFM)-32 (older than 7 years) of MFM-20 (2 to 7 years old) (time frame: Change from baseline to 3 years and 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06132750, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Nov 2023.