The Natural History and Muscle Fatigability of Patients With Congenital Myopathies.
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age2+
SponsorRadboud University Medical Center
About this trial
Core myopathies (CCD/MmD), nemaline myopathies (NEM) and centronuclear myopathies (CNM) are three types of rare congenital myopathies. Not much is known about the natural history and no curative treatment is available for these groups. Also patients report fatigability as one of their symptoms. The goal of this observational study is to study the natural history during 24 months to achieve trial readiness and to study the muscle fatigability in CCD/MmD, NEM and CNM.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
2 years or older
Willing and able to complete the measurement protocol
Willing and able to travel to Nijmegen and Utrecht
Dutch-speaking
Disqualifiers
None
Trial population
45 patients will be included in the natural history study and 75 patients in the fatigability study, with some patients in both studies. The participants will be equally divided over three groups (CCD/MmD, NEM, CNM). Patients will be identified through patient databases of the Radboudumc and UMC Utrecht and patient groups. If more than 15/25 patients per group are willing to participate, we will select patients based on age and severity to have a good representation of the entire/complete disease spectrum.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Natural history and non therapeutical therapy
Other interventionThis study concerns a natural history study part and a muscle fatigability part. For the natural history study no interventions will be used. For the muscle fatigability part non therapeutical therapies will be used. This includes endurance tests, isokinetic dynamometry and repetitive nerve stimulation.
Treatment groups
100 Participants
are divided into 3 treatment groupsGroup A: Core myopathies1 intervention
Group B: Nemaline myopathy1 intervention
Group C: Centronuclear myopathy1 intervention
Trial outcomes
Primary outcomes
1
Change of Motor Function Measure (MFM)
Global motor functioning. The main outcome is the change in MFM score over a period of 2 years. The scores of the patients will also be compared to reference values.
Time frame
Change from baseline at 6, 12, 18 and 24 months2
Endurance shuttle test - fatigability part
Patients walk/move blocks/move pegs at a personalised set speed. The main outcome is if the patient drops out due to the speed being too low. If the patient drops out the time until dropout is noted.
Time frame
At assessment 1 or 2 of the fatigability part of the study. Which day is dependent on the preference of the patient and planning possibilities.Secondary outcomes
1
Change of 6-minute walk test (6MWT) (5 years and older)
How far the patient can walk in 6 minutes. The first and last minute will be compared to each other.
Time frame
Change from baseline at 6, 12, 18 and 24 months2
Accelerometry - change of extent and intensity of physical activity in daily life (all ages)
Physical activity in daily life will be assessed by wearing an wrist worn accelerometer (GENEActiv original devices) for 7 days.
Time frame
Change from baseline at 6, 12, 18 and 24 months3
Change of bone density (DEXA scan) (6 years and older)
The bone density of the spine and hip will be measured by a DEXA scan.
Time frame
Change from baseline at 24 months4
Change of graded and timed rise from floor (5 years and older)
The time it takes to rise from the floor
Time frame
Change from baseline at 6, 12, 18 and 24 monthsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Radboud University Medical Center
Lead sponsor
UMC Utrecht
Collaborator
Source ClinicalTrials.gov