The natural history of patients with mutations in SEPN1: a pilot study

The natural history of patients with mutations in SEPN1: a pilot study - SEPN1

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON57771

Enrollment

Registered

2019-06-17

Start date

2020-08-26

Completion date

Unknown

Last updated

2025-09-15

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

muscle disease myopathy

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: - SEPN1-related muscle disease - 2-100 years of age - Willing and able to complete (part of the) measurement protocol - Willing and able to travel to Nijmegen - Dutch-speaking

Exclusion criteria

Exclusion criteria: none

Design outcomes

Primary

Measure	Time frame
The following outcome measures will be used in both children and adults: Degree and extent of muscle weakness: maximal voluntary isometric contraction (measured by MRC scores and handheld dynamometry) Childhood Myositis Assessment Scale (CMAS) Motor Function Measure 30 seconds sit to stand test Graded and timed function tests 20 meter run test 6-minute walking test Gait measurement on the Gaitrite electronic walkway Back flexibility Range of motion of ankle (contracture Achilles tendon) and elbow Accelerometry for 2 weeks at home Muscle ultrasound Whole-body muscle MRI (yearly; above the age of 10 years) Respiratory function test (above 5 years): forced vital capacity FVC upright and supine, forced expiratory volume in 1 second FEV1, (measured by spirometry), peak cough flow, sniff nasal inspiraoty pressure (SNIP), maximal inspiraoty pressure (MIP) and maximal expiratory pressure (MEP) ECG (yearly) Cardio-echography (yearly) X-ray of the spine (yearly) Neurological phenotype (e.g. facial appearance, ophthalmoplegia) - only at start of study by experienced (paediatric) neurologist (yearly) The following questionnaires will be included: Checklist individual strength questionnaire Fatigue severity scale questionnaire Activlim questionnaire PedsQL generic quality of life, neuromuscular module and Multidimensional Fatigue Scale KIDSCREEN SF36 quality of life scale IPA Sickness impact profile 68 McGill pain questionnaire Frenchay activity index History of falls history questionnaire	—

Measure

Time frame

The following outcome measures will be used in both children and adults: Degree and extent of muscle weakness: maximal voluntary isometric contraction (measured by MRC scores and handheld dynamometry) Childhood Myositis Assessment Scale (CMAS) Motor Function Measure 30 seconds sit to stand test Graded and timed function tests 20 meter run test 6-minute walking test Gait measurement on the Gaitrite electronic walkway Back flexibility Range of motion of ankle (contracture Achilles tendon) and elbow Accelerometry for 2 weeks at home Muscle ultrasound Whole-body muscle MRI (yearly; above the age of 10 years) Respiratory function test (above 5 years): forced vital capacity FVC upright and supine, forced expiratory volume in 1 second FEV1, (measured by spirometry), peak cough flow, sniff nasal inspiraoty pressure (SNIP), maximal inspiraoty pressure (MIP) and maximal expiratory pressure (MEP) ECG (yearly) Cardio-echography (yearly) X-ray of the spine (yearly) Neurological phenotype (e.g. facial appearance, ophthalmoplegia) - only at start of study by experienced (paediatric) neurologist (yearly) The following questionnaires will be included: Checklist individual strength questionnaire Fatigue severity scale questionnaire Activlim questionnaire PedsQL generic quality of life, neuromuscular module and Multidimensional Fatigue Scale KIDSCREEN SF36 quality of life scale IPA Sickness impact profile 68 McGill pain questionnaire Frenchay activity index History of falls history questionnaire

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Secondary

Measure	Time frame
Weight Height Demographic parameters (age, sex, age at diagnosis) Genetic information (mutation) Medical history, including the 10 most burdensome complaints Level of education; work	—

Countries

Netherlands

Outcome results