Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu

The Natural History of Patients With Mutations in SEPN1 (SELENON) or LAMA2

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04478981
Recruitment Status : Recruiting
First Posted : July 21, 2020
Last Update Posted : August 28, 2020
Sponsor:
Information provided by (Responsible Party):
Radboud University

Brief Summary:
SEPN1 (SELENON) is a rare congenital myopathy due to mutations in the SELENON gene. MDC1A is a rare congenital muscle dystrophy due to mutations in the LAMA2 gene. Currently, not much is known about the natural history of these two muscle diseases and no (curative) treatment options exist. The investigators aim to study the natural history of SELENON- and LAMA2-related myopathy/congenital muscular dystrophy patients and prepare for future trials by selection of the most appropriate outcome measures. To this end, a standard medical history, neurological examination, functional measures, questionnaires, cardiac examination, respiratory function tests, radiological examination and accelerometry will be performed over an one and-a-half year period.

Condition or disease Intervention/treatment
MDC1A SELENON-related Myopathy Other: No intervention

Detailed Description:

Rationale: Patients with mutations in the SELENON gene suffer from slowly progressive congenital muscular dystrophy with early onset rigidity of the spine and potentially life-threatening respiratory insufficiency. The protein encoded by SELENON, selenoprotein-1, functions as an endogeneous antioxidant and executes a role in cellular redox metabolism. The first results of an intervention study using KH176, currently under development for mitochondrial disease, in an animal model (Sepn1 knock out zebrafish) showed improved muscular function. Patients with mutations in LAMA2 gene causing merosin-deficient congenital muscular dystrophy (MDC1A) have a similar phenotype as those with mutations in SELENON gene. Key characteristics include congenital hypotonia, delayed motor development and contractures. For them no treatment is available either. Since not much is known about the clinical progression of these two congenital muscle diseases, there is an urgent need for natural history-outcome measure studies to reach trial-readiness enabling smooth transition towards clinical trials.

Objective: The primary objective is to identify and follow (i.e. describe the natural history of) patients with congenital myopathy/muscular dystrophy due to mutations in SELENON- or LAMA2 genes. The secondary objectives are: 1. to select appropriate outcome measures based on the natural history data. 2. to determine the necessity for routine cardiological and respiratory screening.

Study design: This is an observational study. A standard medical history, neurological examination, functional measures, questionnaires, cardiac examination, respiratory function tests, radiological examination (qualitative and quantitative full body MRI, muscle ultrasound, DEXA scan, X-ray of the spine) and accelerometry will be performed. For each participant, the investigators will perform four six-monthly measurements over an one-and-a-half year period. If more than 20 patients are willing to participate in this study, the investigators will select per muscle disease 10 participants that are representative of the entire patient population (based on age, gender, disease severity etc.). Patients that are not included in this study and patients that are not able to or do not wish to visit the Radboudumc will be retrospectively analyzed through medical records. Additionally, they will receive questionnaires, which can be completed at home.

Study population: all patients with congenital myopathy/muscular dystrophy due to mutations in the SELENON or LAMA2 genes.

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 test 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.

Layout table for study information
Study Type : Observational
Estimated Enrollment : 20 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: The Natural History of Patients With Congenital Muscular Dystrophies Due to Mutations in the SELENON or LAMA2 Genes: Working Towards Trial-readiness in Two Mitochondrial Myopathy Mimics
Actual Study Start Date : August 26, 2020
Estimated Primary Completion Date : September 1, 2022
Estimated Study Completion Date : September 1, 2022


Group/Cohort Intervention/treatment
SELENON- or LAMA2-related muscular dystrophy
Participants diagnosed with congenital myopathy/muscular dystrophy due to mutations in the SEPN1 (SELENON) or LAMA2 gene
Other: No intervention
This concerns a natural history study; no interventions will be used




Primary Outcome Measures :
  1. Change of Motor Function Measure (MFM)-32 (older than 7 years) or MFM-20 (2 to 7 years old) [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    Global motor functioning. The items of the MFM are classified in 3 domains: D1: Standing and transfers (13 items, sub score range 0-39) D2: Axial and proximal motor function (12 items, sub score range 0-36) D3: Distal motor function (7 items, sub score range 0-21) Each item is scored on a 0-3 scale. Each sub score will be calculated as the percentage of total possible score achieved. Higher scores indicate a better outcome. The range of the total score is 0-96, again recalculated as the percentage of total possible score achieved. The main point of interest includes the change of MFM score over a period of 1,5 year. Additionally, MFM scores of participants will be compared to reference values.


Secondary Outcome Measures :
  1. Accelerometry (2 years and older) - change of physical activity in daily life [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    Physical activity in daily life will be assessed by wearing an accelerometer (GENEActiv original devices) for 7 days. The main point of interest includes the change of physical activity in daily life over a period of 1,5 year

  2. Change of activity limitations - ACTIVLIM (6 years and older) [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    ACTIVLIM assesses the ability to perform 22 activities of daily life on a 3-point scale from impossible to easy. The main point of interest includes the change of activity limitations over a period of 1,5 year. Additionally, the ACTIVLIM scores of participants will be compared to reference values.

  3. Change of balance by Pediatric balance scale (2 - 17 years) or Mini Balance Evaluation System Test (miniBEST) (18 years and older) [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    Balance will be assessed through the Pediatric balance scale (2 - 17 years) or the Mini Balance Evaluation System Test (miniBEST) (18 years and older). The Pediatric Balance Scale is a modified version of the Berg Balance Scale that is used to assess functional balance skills in school-aged children with mild to moderate motor impairments. The miniBEST evaluates balance control by scoring of exercises that belong to one of the following categories: anticipatory postural changes, reactive postural control, sensory orientation and walking. The main point of interest includes the change of balance scores over a period of 1,5 year. Additionally, the balance score of participants will be compared to reference values.

  4. Change of bone density - DEXA scan (2 years and older) [ Time Frame: Change from baseline at 12 months ]
    The bone density of the spine and hip will be measured by a DEXA scan. The main point of interest includes the change of bone density over a period of 1 year. Additionally, bone density of participants will be compared to reference values.

  5. Change of Borg Rating Scale of Perceived Exertion (5 years and older) - physical activity intensity level [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    Borg Rating Scale of Perceived Exertion is a way of measuring physical activity intensity level. Perceived exertion is based on the physical sensations a person experiences during physical activity. Participants will be asked to score the intensity level at the beginning and at the end of the 6MWT. The main point of interest includes the change of perceived exertion over a period of 1,5 year.

  6. Change of cardiac function (2 years and older) [ Time Frame: Change from baseline at 12 months ]
    Cardiac function will be assessed using standardized cardiac ultrasound protocols with speckle tracking, including global longitudinal strain (GLS), 3D left ventricle ejection fraction (LVEF), right ventricle s' and right ventricle fractional area change (RV FAC) combined with standard electrocardiography (ECG). The main point of interest includes the change of cardiac function over a period of 1 year. Additionally, cardiac function of participants will be compared to reference values.

  7. 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 6 months, 12 months and 18 months ]
    CHOP INTEND has been shown to be valid for the assessment of motor skills of children below 2 years of age. The main point of interest includes the change of CHOP INTEND score over a period of 1,5 year. Additionally, the CHOP INTEND score of participant will be compared to reference values.

  8. Change of fatigue (adults, 18 years and older) - Checklist Individual Strength (CIS) [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    The CIS is a questionnaire rating four subscales: subjective tiredness, concentration, motivation and physical activity. It consists of 20 items on a 7-point scale. The main point of interest includes the change of fatigue over a period of 1,5 year. Additionally, fatigue scores of participants will be compared to reference values.

  9. Change of fatigue (pediatric, 2-17 years old) - PedsQL Multidimensional Fatigue Scale (MFS) [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    The PedsQL MFS assesses subjective fatigue in three domains, namely General Fatigue Scale, Sleep/Rest Fatigue Scale, and Cognitive Fatigue Scale. The main point of interest includes the change of fatigue over a period of 1,5 year. Additionally, fatigue scores of participants will be compared to reference values.

  10. Change of functional ability in daily life - Egen klassifikation scale version 2 (EK2) (16 years and older) [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    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. The main point of interest includes the change of functional ability in daily life over a period of 1,5 year. Additionally, EK2 scores of participants will be compared to reference values.

  11. Change of Functional Ambulation Category (FAC) (5 years and older) [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    The FAC assesses functional ambulation in participants.The main point of interest includes the change of FAC over a period of 1,5 year.

  12. Change of Graded and Timed function tests [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    The time it takes to complete functions of the lower extremity will be assessed with the 30 seconds sit to stand test, Timed up and Go, and the time it takes to climb 4 stairs and to rise from the floor (2 years and older); 6 minute walking test and 10 meter walking test (5 years and older); The main point of interest includes the change of Graded and Timed function tests over a period of 1,5 year. Additionally, values of the Graded and Timed function tests of participants will be compared to reference values.

  13. Change of Hammersmith Infant Neurological Examination (HINE) (under the age of 2 years) [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    HINE is designed to be a simple and scorable method for evaluating infants from 2 months to 2 years of age. It includes 3 sections that assess different aspects of neurologic function, including neurological examination, developmental milestones and behavioral assessment. The main point of interest includes the change of HINE score over a period of 1,5 year. Additionally, HINE scores of participants will be compared to reference values.

  14. Change of Hammersmith Functional Motor Scale (HFMS) (2 years and older, non-ambulant) [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    The HFMS was originally developed to assess the physical abilities of children with non-ambulant Spinal Muscular Atrophy (SMA). It consists of 20 items that were considered as important to measure the physical functioning of those patients. The main point of interest includes the change of HFMS scores. Additionally, HFMS scores of participants will be compared to reference values.

  15. Change of Impact on Participation and Autonomy (IPA) (18 years and older) [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    Questionnaire about participation and autonomy in daily life. The main point of interest includes the change of IPA scores over a period of 1,5 year. Additionally, IPA scores of participants will be compared to reference values.

  16. Change of maximal voluntary isometric contraction (5 years and older) (Newton) [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    Maximal voluntary isometric contraction will be measured by hand-held dynamometry (both hands, m. biceps brachii, m. quadriceps). The main point of interest includes the change of maximal voluntary isometric contraction over a period of 1,5 year. Additionally, maximal voluntary isometric contraction of participants will be compared to reference values.

  17. McGill pain questionnaire (12 years and older) - Change of location, level and characteristics of pain [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    Questionnaire in which the location, level and characteristics of pain are assessed. The main point of interest is the change of location, level and characteristics of pain over a period of 1,5 year.

  18. Change of muscle atrophy (cm) and fattening (echo-intensity) by muscle ultrasound [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    Muscle atrophy and fattening of the leg, arm, back and abdominal muscles will be assessed by muscle ultrasound.The main point of interest includes the change of muscle atrophy and fattening over a period of 1,5 year. Additionally, muscle atrophy and fattening of participants will be compared to reference values.

  19. Change of muscle fattening, atrophy, inflammation and fibrosis by qualitative and quantitative full body muscle MRI [ Time Frame: Change from baseline at 12 months ]
    A full body muscle MRI will be performed in participants who are able to lie supine and still for 60 minutes (participants of 10 years and older) and who are not dependent on respiratory equipment. Muscle fattening will be assessed by Regions of Interest (ROIs) (quantitative) and modified Mercuri score (semi-quantitative). Atrophy will be assessed by muscle volume score (semi-quantitative). Inflammation will be assessed by Malattia score (semi-quantitative). The presence and pattern of muscle fibrosis will be noted.The main point of interest includes the change of muscle fattening, atrophy, inflammation and fibrosis over a period of 1 year. Additionally, these values will be compared to reference values.

  20. Change of muscle power by muscle power measurements (Medical Research Council (MRC) scale) (2 years and older) [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    Muscle power of individual muscle groups can be assessed by muscle power measurements and graded in correspondence with the MRC scale. The main point of interest includes the change of MRC score in participants over a period of 1,5 year.

  21. Pulmonary function (5 years and older) - change of forced vital capacity (percentage predicted) [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    Obtained with handheld spirometry in sit and supine. The main point of interest includes the change of forced vital capacity over a period of 1,5 year. Additionally, forced vital capacity of participants will be compared to reference values.

  22. Pulmonary function (5 years and older) - change of forced expiratory volume in the first second (liter) (percentage predicted) [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    Obtained with handheld spirometry in sit and supine. The main point of interest includes the change of forced expiratory volume in the first second over a period of 1,5 year. Additionally, change of forced expiratory volume in the first second of participants will be compared to reference values.

  23. Pulmonary function (5 years and older) - change of peak expiratory flow (liter per second) [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    Obtained with handheld spirometry in sit and supine. The main point of interest includes the change of peak expiratory flow over a period of 1,5 year. Additionally, peak expiratory flow in participants will be compared to reference values.

  24. Pulmonary function (5 years and older) - change of vital capacity (percentage predicted) [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    Obtained with handheld spirometry in sit and supine. The main point of interest includes the change of vital capacity over a period of 1,5 year. Additionally, vital capacity in participants will be compared to reference values.

  25. Pulmonary function (5 years and older) - change of peak cough flow (liter per second) [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    Obtained with handheld spirometry in sit. The main point of interest includes the change of peak cough flow over a period of 1,5 year. Additionally, peak cough flow in participants will be compared to reference values.

  26. Pulmonary function (5 years and older) - change of maximal expiratory pressure (cmH2O) [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    Obtained with handheld device. The main point of interest includes the change of maximal expiratory pressure over a period of 1,5 year. Additionally, maximal expiratory pressure of participants will be compared to reference values.

  27. Pulmonary function (5 years and older) - change of maximal inspiratory pressure (cmH2O) [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    Obtained with handheld device. The main point of interest includes the change of maximal inspiratory pressure over a period of 1,5 year. Additionally, maximal inspiratory pressure of participants will be compared to reference values.

  28. Pulmonary function (5 years and older) - change of sniff nasal inspiratory pressure (cmH2O) [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    Obtained with handheld device. The main point of interest includes the change of sniff nasal inspiratory pressure over a period of 1,5 year. Additionally, sniff nasal inspiratory pressure of participants will be compared to reference values.

  29. Pulmonary function - change of diaphragm thickness (mm) [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    Obtained with ultrasound. The main point of interest includes the change of diaphragm thickness over a period of 1,5 year. Additionally, the diaphragm thickness of participants will be compared to reference values.

  30. Pulmonary function - change of diaphragm thickening (ratio) [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    Obtained with ultrasound. The main point of interest includes the change of diaphragm thickening over a period of 1,5 year. Additionally, diaphragm thickening of participants will be compared to reference values.

  31. Pulmonary function - change of diaphragm excursion (cm) [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    Obtained with ultrasound. The main point of interest includes the change of diaphragm excursion over a period of 1,5 year. Additionally, diaphragm excursion will be compared to reference values.

  32. Change of Quality of life (adult, 18 years and older) by SF36/RAND36 [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    The adult Quality of Life is measured by the SF36/RAND36 questionnaire. The SF36/RAND36 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 single item that provides an indication of perceived change in health. The main point of interest includes the change of Quality of Life over a period of 1,5 year. Additionally, Quality of Life of participants will be compared to reference values.

  33. Change of Quality of life (adult, 18 years and older) by Individualized Neuromuscular Quality of Life (INQoL). [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    The adult Quality of Life is measured by the Individualized Neuromuscular Quality of Life (INQoL) questionnaire. The INQoL is a validated muscle disease specific measure of quality of life, which can be used for individuals or large samples. The main point of interest includes the change of Quality of Life over a period of 1,5 year. Additionally, Quality of Life of participants will be compared to reference values.

  34. Change of Quality of Life (pediatric, 2-17 years old) by PedsQL generic quality of life [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    The pediatric Quality of Life is measured by PedsQL generic quality of life. The PedsQL generic quality of life questionnaire consists of 8 items on physical functioning, 5 items on emotional functioning, 5 items on social functioning, and 5 items on school functioning. Each item is scored on a 0-4 scale. The items are reversed scored and linearly transformed to a 0-100 scale, so that higher scores indicate a better outcome. The main point of interest includes the change of Quality of Life over a period of 1,5 year. Additionally, Quality of Life of participants will be compared to reference values.

  35. Change of Quality of Life (pediatric, 2-17 years old) by PedsQL neuromuscular module (NMM) [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    The PedsQL NMM questionnaire consists of 25 questions in three domains: Neuromuscular disease, communication and family resources. The main point of interest includes the change of Quality of Life over a period of 1,5 year. Additionally, Quality of Life of participants will be compared to reference values.

  36. Change of range of motion of ankles and elbows [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    The range of motion of the ankles and elbows is noted bilaterally by goniometry. The main point of interest includes the change of range of motion of ankles and elbows over a period of 1,5 year. Additionally, the range of motion of ankles and elbows will be compared to reference values.

  37. Change of spine deformity (degree) (2 years and older) [ Time Frame: Change from baseline at 12 months ]
    Spine deformity (scoliosis, lordosis, kyphosis) will be assessed by a full spine X-ray in lateral and anteroposterior direction in a sitting position and in flexion-extension in a lying position. The main point of interest includes the change of spine deformity over a period of 1 year. Additionally, spine deformity of participants will be compared to reference values.

  38. Change of Brooke and Vignos scale (2 years and older) [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    The Brooke and Vignos scales provide ordinal data to assess the upper and lower extremity functions. The main point of interest includes the change of Brooke and Vignos scale over a period of 1,5 year.

  39. Change of Wong-Baker Faces Pain Scale (2 years and older) [ Time Frame: Change from baseline at 6 months, 12 months and 18 months ]
    The Wong-Baker Faces Pain Scale was originally created for children to help them communicate about their pain. The main point of interest includes the change of the Wong-Baker Faces Pain Scale over a period of 1,5 year.



Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   up to 100 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with a congenital myopathy/muscular dystrophy due to mutations in SELENON- or LAMA2 genes will be identified through contact with genetic diagnostic services, rehabilitation centers, and muscle disease experts in The Netherlands and Dutch-speaking Belgium. Patients with a congenital myopathy/muscular dystrophy due to SELENON (prevalence 0.5:1000,000) or LAMA2 (4 in 500,000) mutations are rare and no Dutch registry exists. Therefore the investigators can only estimate the number of patients.
Criteria

Inclusion Criteria:

  • Willing and able to complete (part of the) measurement protocol
  • Willing and able to travel to Nijmegen (The Netherlands)
  • Dutch-speaking
  • Genetically-confirmed muscle disease caused by mutations in SELENON (SEPN1): congenital muscular dystrophy with early spine rigidity or congenital myopathy (multicore/minicore disease, congenital fiber type size disproportion)
  • Genetically confirmed muscular dystrophy caused by mutations in LAMA2: merosin-deficient muscular dystrophy 1A (early-onset LAMA2-related muscular dystrophy) or childhood-onset limb-girdle type muscular dystrophy (late-onset LAMA2-related muscular dystrophy)

Exclusion Criteria:

  • None

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04478981


Contacts
Layout table for location contacts
Contact: Nicol Voermans, MD PhD +31650155770 Nicol.Voermans@radboudumc.nl
Contact: Corrie Erasmus, MD PhD +31650165926 Corrie.Erasmus@radboudumc.nl

Locations
Layout table for location information
Netherlands
Radboudumc Recruiting
Nijmegen, Gelderland, Netherlands, 6500 HB
Contact: Nicol Voermans, MD PhD    +31650155770    nicol.voermans@radboudumc.nl   
Contact: Corrie Erasmus, MD PhD    +31650165926    corrie.erasmus@radboudumc.nl   
Sponsors and Collaborators
Radboud University
Investigators
Layout table for investigator information
Principal Investigator: Nicol Voermans Radboud University
  Study Documents (Full-Text)

Documents provided by Radboud University:
Publications:

Layout table for additonal information
Responsible Party: Radboud University
ClinicalTrials.gov Identifier: NCT04478981    
Other Study ID Numbers: NL64269.091.17
First Posted: July 21, 2020    Key Record Dates
Last Update Posted: August 28, 2020
Last Verified: July 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided
Plan Description: 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.

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Radboud University:
MDC1A
LAMA2-related muscular dystrophy
LAMA2
Laminin2 / genetics
Laminin2 / deficiency
SELENON
SEPN1
Multi-minicore Disease
Rigid Spine Muscular Dystrophy
Selenoproteins / genetics
Natural history study
Outcome measures
Congenital muscular dystrophy
Congenital myopathy
Muscle disease
Additional relevant MeSH terms:
Layout table for MeSH terms
Muscular Dystrophies
Muscular Diseases
Muscular Disorders, Atrophic
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn