The main objective of this prospective cohort study of patients with proximal SMA in the Netherlands is to investigate the function of the neuromuscular junction by means of repetitive nerve stimulation (RNS).
ID
Source
Brief title
Condition
- Neurological disorders congenital
- Neuromuscular disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
The main study parameters are the neurophysiologic characteristics in
neuromuscular transmission measured by means of nerve conduction studies (i.e.
decrement, increment, distal latencies, compound muscle action potential (CMAP)
amplitude, nerve conduction velocity).
Secondary outcome
not applicable
Background summary
Spinal muscular atrophies (SMA) are a group of disorders characterized by
weakness caused by loss of motor neurons in the anterior horn cells of the
spinal cord, and are classified according to patterns of weakness and specific
genetic mutations. Proximal SMA is characterized by weakness of proximal muscle
groups and is caused by homozygous deletion of the survival motor neuron 1
(SMN1)-gene. SMA is generally considered to be a neurogenic disease. However,
the pattern of weakness (i.e. proximal weakness) in SMA is uncommon for a
neurogenic disorder and is more compatible with myopathy or disorders of the
neuromuscular junction. Animal models for SMA, i.e. SMN1-knock out mice, have
indeed shown specific defects in the anatomy and development of the
neuromuscular junction. Treatment of SMA is supportive. Improved insight in the
pathogenesis of SMA may help the development of new forms of treatment.
Study objective
The main objective of this prospective cohort study of patients with proximal
SMA in the Netherlands is to investigate the function of the neuromuscular
junction by means of repetitive nerve stimulation (RNS).
Study design
Pilot study in a cohort of SMA patients.
Study burden and risks
This research will be done in patients with SMA. The burden of participation
consists of undergoing nerve conduction study in 4 different muscles (musculus
abductor digiti minimi, musculus trapezius, musculus orbicularis oculi and
musculus abductor hallucis). Overall, the burden and risk associated with
participation in the study will be minor.
Heidelberglaan 100
3584 CX Utrecht
NL
Heidelberglaan 100
3584 CX Utrecht
NL
Listed location countries
Age
Inclusion criteria
1) a diagnosis of SMA type 2, 3a, 3b or 4, diagnosed on clinical grounds and confirmed by homozygous deletion of the SMN1 gene; 2) given oral and written informed consent
Exclusion criteria
1) known disorders of the NMJ or polyneuropathy; 2) use of drugs that may alter NMJ function; 3) SMA type 1 4) apprehension against participation in EMG
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL33820.041.10 |