Function of the neuromuscular junction in patients with spinal muscular atrophy (SMA); A cohort study on the function of the neuromuscular junction in Dutch patients with spinal muscular atrophy to elucidate the possible role of the neuromuscular junction in the pathophysiology of spinal muscular atrophy

Completed

• Conditions: SMA; spinal muscular atrophy; 10029299; 10029317

• Registration Number: NL-OMON36526
• Lead Sponsor: niversitair Medisch Centrum Utrecht

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 6 May 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 30

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

Study & Design

• Study Type: Observational non invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>The main study parameters are the neurophysiologic characteristics in<br /><br>neuromuscular transmission measured by means of nerve conduction studies (i.e.<br /><br>decrement, increment, distal latencies, compound muscle action potential (CMAP)<br /><br>amplitude, nerve conduction velocity). </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>not applicable</p><br>