Effect of Motor Development, Motor Function and Electrophysiologic Findings of IOPD Under ERT

Taipei Veterans General Hospital

Status

Unknown

Conditions

Glycogen Storage Disease Type II

Treatments

Other: observation study

Study type

Observational

Funder types

Other

Identifiers

NCT02761421

2015-12-014C

Details and patient eligibility

About

To investigate the motor development, motor function and electrodiagnostics presentation in IOPD under ERT.

Full description

Background

Pompe disease is an autosomal recessive disease, enzyme replacement therapy (ERT) and new born screen (NBS) had been initiated in Taiwan since 2008. However, residual muscle weakness were noted. Decrease in amplitude of nerve compound muscle action potential (CMAP) and increase spontaneous activity were reported before the imitation of ERT. However, the motor development, motor function and electrodiagnostic presentation which were important in further direction of treatment and rehabilitation program arrangement in infantile Pompe disease (IOPD) under ERT is lacking.

Aim

To investigate the motor development, motor function and electrodiagnostic presentation in IOPD under ERT.

Method

This is an observational, prospective, longitudinal, follow-up study. Motor development was assessed by Alberta Infant Motor Scale (AIMS) and Peabody Developmental Motor Scales, Second Edition (PDMS II); motor function was assessed by Pediatric Evaluation of Disability Inventory (PEDI) and Gross Motor Function Measure (GMFM). Electrodiagnosis studies include nerve conduction study (NCS) and electromyography (EMG).

Expect Effects

Obtain the characteristics of motor development, motor function and electrodiagnosis presentation of IOPD under ERT, and the relation between motor development, motor function and electrodiagnosis presentation.

Enrollment

15 estimated patients

Sex

All

Volunteers

No Healthy Volunteers

Inclusion criteria