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

• Conditions: Glycogen Storage Disease Type II
• Interventions: Other: observation study

• Registration Number: NCT02761421
• Lead Sponsor: Taipei Veterans General Hospital, Taiwan

Brief Summary

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

Detailed 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.

Study Timeline

• Status Verified: 2015-12
• Study Start: 2016-01
• Study First Submitted: 2016-04-26
• Study First Submitted QC: 2016-05-02
• Last Update Submitted: 2016-05-02
• Study First Posted: 2016-05-04
• Last Update Posted: 2016-05-04
• Primary Completion: 2016-12
• Study Completion: 2016-12

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 15

Inclusion Criteria

• All patients with infantile onset Pompe disease (IOPD) who were diagnosed and follow-up at Taipei Veteran General Hospital (TVGH).

Exclusion Criteria

• Patients whose guardian did not provide the inform consent.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
patients with IOPD	observation study	observation all patients with IOPD

Primary Outcome Measures

Name	Time	Method
Development Quotient of PDMS-II	1 year
Raw Score of Alberta Infant Motor Scale Development quotient of Peabody Developmental Motor Scales, Second Edition	1 year

Secondary Outcome Measures

Name	Time	Method
Raw Score of Pediatric Evaluation of Disability Inventory Total score of GMFM	1 year
Total Score of GMFM	1 year

Trial Locations

Locations (1)

Taipei Veteran General Hospital : Taipei City, Taiwan 11217, R.O.C.; 🇨🇳 Taipei, Taiwan