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

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 - Neuromuscular junction in spinal muscular atrophy

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON36526

Enrollment

Registered

2011-06-24

Start date

2011-07-05

Completion date

Unknown

Last updated

2024-05-06

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

Conditions

SMA spinal muscular atrophy

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

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

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 outcomes

Primary

Measure	Time frame
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).	—

Countries

Netherlands

Outcome results