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

Study Overview
=================
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.

Official Title
-----------------
Effect of Motor Development, Motor Function and Electrodiagnostic Characteristic of IOPD Under ERT

Conditions
-----------------
Glycogen Storage Disease Type II

Intervention / Treatment
-----------------
* Other: observation study


Participation Criteria
=================
Eligibility Criteria
-----------------
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.
Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| patients with IOPD<br>observation all patients with IOPD | Other: observation study<br>* observation study<br>|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Raw Score of Alberta Infant Motor Scale Development quotient of Peabody Developmental Motor Scales, Second Edition |  | 1 year | 
| Development Quotient of PDMS-II |  | 1 year | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Raw Score of Pediatric Evaluation of Disability Inventory Total score of GMFM |  | 1 year | 
| Total Score of GMFM |  | 1 year | 

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
IOPD